第一篇：普通遺傳學(xué)論文：普通遺傳學(xué)問題解決的教學(xué)設(shè)計及行動

普通遺傳學(xué)論文：普通遺傳學(xué)問題解決的教學(xué)設(shè)計及行動研究

【中文摘要】隨著社會的發(fā)展，對人才培養(yǎng)也提出了新的要求，要求他們具有較好的解決問題的能力、較強的組織與規(guī)劃能力、良好的交流合作能力。傳統(tǒng)教學(xué)在對學(xué)生的這些能力的培養(yǎng)上顯得力不從心，所以研究“問題解決教學(xué)”的必要性日益顯現(xiàn)。本文對問題解決教學(xué)的相關(guān)概念進行界定，對問題解決教學(xué)的國內(nèi)外研究現(xiàn)狀和理論基礎(chǔ)進行了綜述；深入研究問題解決的過程與方法的相關(guān)理論，并列舉實例予以解釋；依據(jù)問題提出和問題解決主體的不同，將問題解決教學(xué)分為四種類型，即教師提問—教師解決問題型、教師提問—學(xué)生解決問題型、學(xué)生提問—教師解決問題型和學(xué)生提問—學(xué)生解決問題型。四種類型的教學(xué)理論已應(yīng)用于普通遺傳學(xué)教學(xué)實踐。本研究主要采用文獻分析法、實踐研究法、案例分析法、問卷調(diào)查法和數(shù)據(jù)統(tǒng)計分析法等研究方法。通過實踐研究和統(tǒng)計分析得出如下結(jié)論：

1、問題解決教學(xué)可以提高學(xué)生的遺傳學(xué)學(xué)習(xí)興趣；

2、問題解決教學(xué)可以提高學(xué)生的自我效能感、問題意識、自主學(xué)習(xí)能力和交流合作能力；

3、本次問題解決教學(xué)實踐短期內(nèi)對遺傳學(xué)學(xué)習(xí)成績影響不明顯。

【英文摘要】With the development of the society, new requirements of talent cultivation are putforward.They need to have good abilities for solving problems and nice

programming andorganizational ability;they should be good at communication and team work.However, thetraditional teaching is unable to meet those requirements.Research on the problem-solvingteaching becomes increasingly necessary.The thesis defines some relative conceptions on problem-solving teaching, summarizesthe rationale and the research status at home and abroad.Processes and methods of solvingproblem are discussed deeply, and many examples are enumerated to explain those theories.According to the difference in the partner of problem presenter and problem solver,problem-solving teaching is divided into four models, they are teacher present-teacher solvemodel, teacher present-student solve model, student present-teacher solve model and teacherpresent-student solve model.Four models were applied to teaching practice of generalgenetics.This research mainly uses literature analysis method, practice methodology, case analysismethod, questionnaire survey method, and statistical analysis method.The followingconclusions are drawn from the study:1.Problem-solving teaching could raise students’ interest levels on general geneticsstudy.2.Problem-solving teaching could raise students’ academic self-efficacy，questionawareness, independent learning capability and communication and cooperation ability.3.The problem-solving teaching practice failed to improve exam result.【關(guān)鍵詞】普通遺傳學(xué) 問題解決教學(xué) 教學(xué)類型 教學(xué)實踐 【英文關(guān)鍵詞】General genetics Problem-solving teaching teaching model teachingpractice 【目錄】普通遺傳學(xué)問題解決的教學(xué)設(shè)計及行動研究5-6背景9-10學(xué)的弊病99-10Abstract6

第一章 引言9-1

3摘要

第一節(jié) 研究

二、傳統(tǒng)教

一、社會發(fā)展對人才的要求9

三、遺傳學(xué)問題解決教學(xué)研究的必要性

一、研第二節(jié) 研究的內(nèi)容、目的和意義10-1

1二、研究目的意義10-11究的內(nèi)容10法1

1第三節(jié) 研究方第四節(jié) 創(chuàng)新之處11-13第二章 問題解決教學(xué)模

一、第二節(jié) 式概述13-29第一節(jié) 國內(nèi)外研究現(xiàn)狀分析13-16

二、國內(nèi)研究現(xiàn)狀15-16國外研究現(xiàn)狀13-15問題解決教學(xué)相關(guān)概念的界定16-2116-19

一、關(guān)于“問題”

三、問題解決教第三節(jié) 問題解決教學(xué)

二、完形—頓悟

四、有意義學(xué)習(xí)理

二、關(guān)于“問題解決”19-20

20-21學(xué)(Problem-solving teaching)的理論基礎(chǔ)21-29說23-2

4一、試誤說21-2

3三、建構(gòu)主義理論24-26論（奧蘇貝爾和羅杰斯）26-29第三章 問題解決的過程和方

法29-37第一節(jié) 問題解決的過程

33-37

29-33第二節(jié) 問題解決的策略和方法析37-8

3第四章 問題解決教學(xué)設(shè)計及案例分

第二節(jié) 第一節(jié) 大學(xué)生學(xué)習(xí)特點分析37-38教材和其他可利用資源的分析38-39計及案例分析39-83研究83-9383

第三節(jié) 問題解決教學(xué)設(shè)

第五章 普通遺傳學(xué)問題解決教學(xué)的實驗

一、實驗?zāi)康乃?、?/p>

一、第一節(jié) 實驗過程83-8

4二、實驗假設(shè)8

3三、實驗對象83驗過程83-84第二節(jié) 前測、后測問卷的設(shè)計84-86興趣量表的編制84-8

5二、自我效能感、問題意識、自主學(xué)

85-86

第三節(jié) 實驗結(jié)

二、后測問卷分析第六章 實驗結(jié)論和建

一、問題解決教學(xué)可

二、問題解決教學(xué)習(xí)能力和交流合作能力調(diào)查問卷的編制果86-9388-91議93-97

一、前測問卷分析86-88

三、后測成績分析91-93第一節(jié) 實驗結(jié)論93-9

493以提高學(xué)生學(xué)習(xí)遺傳學(xué)這門學(xué)科的興趣可以提高學(xué)生的自我效能感、自主學(xué)習(xí)能力、問題意識和交流合作能力9

3三、問題解決教學(xué)對提高學(xué)生的遺傳學(xué)學(xué)習(xí)成績沒有明

第二節(jié) 實驗的反思和建議94-9

5一、教

二、94顯影響93-94學(xué)的設(shè)計要注意整體性，合理分配各個教學(xué)片段的時間94問題的提出是教學(xué)的前提，問題的解決過程是教學(xué)的核心

三、問題解決教學(xué)的應(yīng)用中要注意與講授式教學(xué)配合94-9

5四、四種類型的問題解決教學(xué)也需要相互配合9

5第三節(jié) 本

研究的局限性95-9799-107

參考文獻97-99附錄

附錄 2 附錄 1 生物學(xué)習(xí)興趣水平量表99-101生物學(xué)習(xí)自我效能感、自主學(xué)習(xí)能力、問題意識和交流合作能力問卷101-103附錄 3 遺傳學(xué)學(xué)習(xí)興趣水平量表103-10

5附錄 4 遺傳學(xué)學(xué)習(xí)自我效能感、自主學(xué)習(xí)能力、問題意識和交流合作能力問卷105-107科研成果108-109

致謝107-108

攻讀學(xué)位期間取得的參考文獻109-110

第二篇：2013春普通遺傳學(xué)-作業(yè)題

東北農(nóng)業(yè)大學(xué)網(wǎng)絡(luò)教育學(xué)院

普通遺傳學(xué)網(wǎng)上作業(yè)題(一)第一章

緒論

一、名詞解釋 1遺傳學(xué)

2遺傳

3變異

4遺傳學(xué)研究

二、判斷題

1遺傳是相對的變異是絕對的。（）2 遺傳和變異的表現(xiàn)與環(huán)境無關(guān)。（）3進化論可以離開遺傳學(xué)獨立發(fā)展。（）

三、填空題

1（）和（）生物界最普遍和最基本的兩個特征。

2（）、（）和（）是生物進化和新品種選育的三大因素。3（）在1859年發(fā)表了《物種起源》。4（）是分子遺傳學(xué)中最重要的研究方向。

四、簡答題

1簡述遺傳學(xué)研究的任務(wù)？

五、論述題

1簡述遺傳學(xué)在科學(xué)和生產(chǎn)發(fā)展中的作用？

普通遺傳學(xué)作業(yè)題(二)第二章

遺傳的細胞學(xué)基礎(chǔ)

一、名詞解釋

1細胞器

2細胞周期

3無融合生殖 4無性生殖

5有性生殖

6主縊痕

7孤雌生殖

8受精

9胚乳直感

10果實直感

11隨體

12同源染色體

13性染色體

14聯(lián)會

15單倍體

16多倍體 17擬核

18細胞骨架

19次縊痕

20核型分析 21無絲分裂

22無融合結(jié)子

23單性生殖

24單性結(jié)實 25生活周期

26世代交替

27低等生物無性世代

28低等生物有性世代

二、判斷題

1細胞是生物體結(jié)構(gòu)和生命活動的基本單位。（）2植物細胞的DNA都儲存在細胞核和葉綠體內(nèi)。（）3只有高等動物細胞才有中心體。（）4染色質(zhì)和染色體實際是同一物質(zhì)。（）5人體內(nèi)不存在細胞無私分裂。（）6細胞周期分為G1期、S期和G2期。（）7常染色體主要是由常染色質(zhì)所組成.（）

8無性繁殖的后代不象有性繁殖的后代那樣發(fā)生分離。（）9我們通常在分裂后期研究染色體的形態(tài)。（）

10細胞周期中一個最重要的控制點就是決定細胞是否進入S期。（11高等動物都是雌雄異體的。（））

三、填空題

1細胞的分裂方式可分為（）和（）兩種。

2減數(shù)分裂第一次分裂前期可分為（）（）（）（）（）五個時期。3高等植物的一個完整生活周期是從（）到下一代（），它包括（）和（）兩個階段。（）

4生物界的細胞分為（）細胞和（）細胞。（）5原核生物僅有的細胞器是（）。（）

6質(zhì)膜對于（）、（）、（）、（）和（）等，都具有重要的作用。（）7（）是動植物細胞質(zhì)中普遍存在的細胞器。（）8（）是綠色植物特有的細胞器。（）

9（）是在細胞質(zhì)中數(shù)量最多，在整個細胞比重占有很大比例的細胞器。（）10（）是真核細胞質(zhì)中廣泛分布的膜相結(jié)構(gòu)。（）

11（）是一場物質(zhì)集聚的主要場所，對控制細胞發(fā)育和性狀遺傳起主導(dǎo)作用。（12根據(jù)著絲點的位置可以將染色體分為（）、（）、（）和（）。（13細胞周期主要包括細胞（）過程及兩次分裂之間的（）。（）14植物的授粉方式分為（）和（）。（）15無融合生殖可以概分為兩大類（）和（）。（）

四、簡答題

1有絲分裂和減數(shù)分裂的主要區(qū)別？

2.植物的雙受精是怎樣進行的？用圖表示。

3簡述染色體次縊痕的作用。

4簡述生物保持生長的的三個前提？

5有絲分裂的遺傳學(xué)意義？

6減數(shù)分裂的遺傳學(xué)意義？））

7簡述植物細胞質(zhì)里包括哪些主要細胞器？有什么特點？

五、計算題

1假定一個雜種細胞里含有3對染色體，其中A、B、C來自父本，a、b、c來自母本，通過減數(shù)分裂能形成幾種配子？寫出各種配子的染色體組成。

2.玉米細胞里有10對染色體，寫出下列各組織的細胞中染色體數(shù)目。（1）葉（2）根（5）卵細胞（6）反足細胞（7）花粉管核（8）胚囊母細胞（9）花藥壁

普通遺傳學(xué)作業(yè)題(三)第三章

遺傳物質(zhì)的分子基礎(chǔ)

一、名詞解釋 1半保留復(fù)制

2翻譯

3遺傳密碼

4簡并

5中心法則

6染色質(zhì)

7常染色質(zhì)

8異染色質(zhì) 9復(fù)制子

10前導(dǎo)鏈

11后隨鏈

12岡崎片段 13不均一核RNA 14小核RNA

15著絲粒

16全保留復(fù)制 17散布式復(fù)制

3）胚乳4）胚

（（18mRNA的功能

19多聚核糖體

二、判斷題 5`UCA3`這個密碼子的反密碼子是3`AUG5`。（）2 DNA是所有生物的遺傳物質(zhì)。（）3所有生物的DNA復(fù)制都是雙向的。（）

4DNA聚合酶Ⅲ才是活體細胞內(nèi)真正控制DNA合成的酶（）5DNA復(fù)制是雙向的都是從5’到3’方向進行。（）6DNA復(fù)制時兩條鏈都是連續(xù)合成的。（）7DNA分子的雙螺旋結(jié)構(gòu)是左手螺旋的。（）

8染色體也和染色質(zhì)一樣有常染色質(zhì)區(qū)和異染色質(zhì)區(qū)。（）9tRNA是最小的RNA。（）

10一種蛋白質(zhì)只能對應(yīng)一個遺傳密碼（）11異染色質(zhì)一般不編碼蛋白質(zhì)。（）

三、填空題

1核苷酸包括（）（）（）3部分。（）

2DNA含有的堿基是（）（）（）（）四種。（）3染色質(zhì)的基本結(jié)構(gòu)是（）（）和（）。（）4基因的表達第一步是（）第二步是（）。（）5三種RNA分子包括（）（）（）。（）

6（）是組成核糖體的主要成分，而核糖體則是合成蛋白質(zhì)的中心。（）7異染色質(zhì)可分為（）異染色質(zhì)和（）異染色質(zhì)。（）

8染色單體包括一條（）和位于線上的許多染色很深的顆粒狀（）。（）9生物的染色體是（）和（）的復(fù)合物。（）

10證明DNA是主要遺傳物質(zhì)的三個經(jīng)典實驗是（）、（）和（）。（）

11假設(shè)某一段DNA分子鏈有一千對核苷酸，則該段就可以有（）種不同的排列組合方式。（12（）染色質(zhì)可經(jīng)轉(zhuǎn)錄表現(xiàn)出活躍的遺傳功能。（）

13在細胞有絲分裂的中期，染色體的結(jié)構(gòu)是由兩條（）組成的。（）

14遺傳物質(zhì)不管其化學(xué)性質(zhì)如何，必須具有（）、（）和（）等三種基本功能。（15（）的堿基順序決定蛋白質(zhì)的氨基酸順序。（）16RNA轉(zhuǎn)錄可以分三步（）、（）和（）。

17RNA轉(zhuǎn)錄時上游指RNA分子的（）端，下游則指（）端。18中心法則所闡述的是基因的兩個基本屬性：（）和（）。（）））

四、簡答題

1基因的三種基本功能？

2端體的功能？DNA的復(fù)制過程？

4真核生物DNA合成的特點？RNA合成與DNA合成的不同點？

6真核生物RNA轉(zhuǎn)錄的特點？mRNA的加工的步驟？

8瓦特森和克里克模型的主要特點？

9簡述三種DNA聚合酶在決定DNA合成方面有一些共同的特性？

普通遺傳學(xué)作業(yè)題(四)

第四章

孟德爾遺傳

一、名詞解釋 1單位性狀

2性狀

3相對性狀

4基因型

5雜種優(yōu)勢

6測交

7獨立分配規(guī)律

8共顯性

9鑲嵌顯性

10上位性

11多因一效

12一因多效

13純合體

14復(fù)等位基因

15表現(xiàn)型

16雜合體

17概率

18致死基因

19互補基因

20積加作用 21重疊作用

22抑制基因

23基因互作

二、判斷題

1表現(xiàn)型僅由基因型決定。（）

2孟德爾的分離規(guī)律可適用于多倍體。（）

3在多基因遺傳中F1的3對雜合基因分別3對染色體上，減數(shù)分裂過程中，這3對染色體有8種可能的分離方式。（）

4據(jù)分配規(guī)律，雜種相對遺傳因子發(fā)生分離，純種遺傳因子不分。（）5等位基因發(fā)生分離的時間是在雜種細胞進行減數(shù)分裂形成配子是發(fā)生的。（）6顯隱性關(guān)系不會受到環(huán)境的影響。（）

三、填空題

1表現(xiàn)型是（）和（）作用下的具體表現(xiàn)。（）2基因互作可分為（）互作和（）互作。（）

四、簡答題

1分離比例實現(xiàn)的條件？

2對于7對性狀都在F2代出現(xiàn)3：1的分離比孟德爾作出了哪些假設(shè)？

五、論述題

1分離規(guī)律的應(yīng)用？

2獨立分配規(guī)律的應(yīng)用？

六、計算題

1光穎，抗銹，無芒（ppRRAA）小麥和毛穎，感銹，有芒（PPrraa）小麥雜交，希望從F3 選出毛穎，抗銹，無芒（PPRRAA）的小麥10個株系，試問在F2群體中至少應(yīng)選擇表現(xiàn)型為 毛穎，抗銹,無芒（P_R_A_）的小麥多少株？

2小麥有稃基因H為顯性，裸?；騢為隱性。現(xiàn)以純合的有稃品種（HH）與純合的裸粒品種（hh）雜交，寫出F1和F2的基因型和表現(xiàn)型？

普通遺傳學(xué)作業(yè)題(五)第五章

一、連鎖遺傳和性連鎖 名詞解釋

1交換值

2交換

3連鎖遺傳

4遺傳圖譜 5伴性遺傳

6完全連鎖

7干擾

8不完全連鎖 9基因定位

10單交換

11性染色體

12交叉遺傳 13限性遺傳

14從性遺傳

15著絲點作圖

16畸變現(xiàn)象

二、判斷題

1交換值都小于50%（）

2交換值越接近0%，連鎖強度越大。（）3當符合系數(shù)為1時，表示發(fā)生完全的干擾。（）4性別分化受染色體的控制，也受環(huán)境的影響。（）

5除著絲點之外，非姐妹染色單體的的任何位點都可能發(fā)生交換。（）6交換值不受環(huán)境的影響。（）7符合系數(shù)常變動在0—1之間。（）

8常染色體的每對同源染色體往往是異型的。（）9雌雄和雄性的比例一般是1：1.（）

三、填空題

1由性染色體決定雌雄性別的方式主要有（）和（）兩種類型。

2人類的性染色體屬于（）型，有染色體（）對，其中常染色體有（）對，性染色體（）對。

3請寫出下列雜交組合產(chǎn)生F1的遺傳組成Srr×NRR→S（）×S（）, Srr×Nrr→（）×（）, Srr×SRr→（）×（）。

4一個成熟的花粉粒包括（）和（），這樣的花粉粒在植物學(xué)上被稱為雄配子體。5（）標致著各對同源染色體中的非姐妹染色單體的對應(yīng)區(qū)段發(fā)生了交換。6（）和（）是基因定位所采用的主要方法。

7繼孟德爾提出的兩條遺傳規(guī)律之后，（）成為了第三條遺傳規(guī)律。

四、簡答題

1簡單概括一下性別決定問題？

2.什么是伴性遺傳和限性遺傳？它們的區(qū)別是什么？

3基因定位時，三點測驗結(jié)果分析的要點是什么？

4試述遺傳圖譜和物理圖譜的構(gòu)建途徑？

5簡述重組型配子為什么少于50%？

6簡述如何利用兩點測驗確定Aa、Bb和Cc對基因在染色體上的相對位置？

7如何利用三點測驗來確定連鎖的三個基因在染色體上的順序？

五、計算題

1已知水稻的抗稻瘟病基因P與晚熟基因L都是顯性，而且是連鎖遺傳的，交換值為2.4%。如果用抗病、晚熟材料作為一個親本，與感病、早熟的另一親本雜交，計劃在F3選出抗病、早熟的5個純合株系，這個雜交組合的F2群體至少要種植多少株？a和b是連鎖基因，交換值為16%，位于另一染色體上的d和e也是連鎖基因，交換值為8%。假定ABDE和abde都是純合體，雜交后的F1又與純隱性親本測交，其后代的基因型及其比例如何？

3假定一個雜種細胞里含有3對染色體，其中A、B、C來自父本，a、b、c來自母本，通過減數(shù)分裂能形成幾種配子？寫出各種配子的染色體組成。

4在雜合體Aby//abY內(nèi)，a和b之間的交換值為8%，b和y之間的交換值為12%，在符合系數(shù)為0.24時，配子的比例如何？

5已知玉米籽粒的有色（C）對無色（c）為顯性，飽滿（S）對凹陷（s）為顯性以有色飽滿的純種與無色凹陷的純種雜交獲得F1，然后用雙隱性純合體與F1測交，結(jié)果如下：CcSs種子4032粒，Ccss種子149粒，ccSs種子152粒，ccss種子4035粒，計算交換值。

普通遺傳學(xué)作業(yè)題

（六）第六章 染色體的變異

一、名詞解釋

1倒位

2易位 3順接重復(fù)

4反接重復(fù) 5缺失

6缺失雜合體

7轉(zhuǎn)移

8同源多倍體 9異源多倍體

10頂端缺失

11重復(fù)

12斷片

13雙著絲粒染色體

二、判斷題

1只要是倒位雜合體減數(shù)分裂后期Ⅰ必將形成染色體橋。（）2易位可導(dǎo)致染色體融合。（）

3染色體的穩(wěn)定是相對的，變異是絕對的。（）

4細胞內(nèi)某基因出現(xiàn)的次數(shù)越多，表現(xiàn)型效應(yīng)越顯著。（）5易位與致癌基因的表達也有關(guān)系。（）

6同源三倍體的高度不育性在生產(chǎn)上無應(yīng)用價值。（）

三、填空題

1染色體結(jié)構(gòu)變異可分為（）、（）、（）和（2倒位可分為（）倒位和（）倒位。3重復(fù)對表現(xiàn)型的主要影響是（）。

四、簡答題

1染色體組的最基本特征？）。

2染色體結(jié)構(gòu)變異一般分為幾類？各有何特點？

3簡述如何鑒定缺失？

4倒位雜合體非姐妹染色單體之間在倒位圈發(fā)生交換可產(chǎn)生幾種交換染色單體？

5簡述利用缺失進行基因定位的關(guān)鍵？

五、論述題

1論述多倍體在農(nóng)業(yè)生產(chǎn)上的應(yīng)用？

2論述如何鑒定缺失？

3論述如何鑒定倒位？

4簡述遺傳學(xué)和育種學(xué)對單倍體研究有増無減的原因？

普通遺傳學(xué)作業(yè)題

（七）第七章 細菌和病毒的遺傳

一、名詞解釋

1溫和性噬菌體

2轉(zhuǎn)化

3接合 4轉(zhuǎn)導(dǎo)

5質(zhì)粒

6整合 7性導(dǎo)

8Hfr細胞

9特殊性轉(zhuǎn)導(dǎo)

10無性繁殖系

11烈性噬菌體

轉(zhuǎn)導(dǎo)體

13合轉(zhuǎn)導(dǎo)

14宿主范圍突變體

15普遍性轉(zhuǎn)導(dǎo)

二、判斷題

1一切生物均有細胞結(jié)構(gòu)。（）

2病毒中沒有合成蛋白質(zhì)外殼所必須的核糖體。（）3病毒的遺傳物質(zhì)僅有RNA。（）4死的細胞病毒也可以浸染。（）

5合轉(zhuǎn)導(dǎo)的頻率越高，表明兩個基因在染色體上的距離越近。（）6供體DNA分子可以是單鏈。（）

7供體DNA的分子數(shù)與細胞轉(zhuǎn)化率直接相關(guān)。（）8供體DNA的分子數(shù)越多細胞轉(zhuǎn)化率越高。（）9受體細胞不處于感受態(tài)時也能接受外源DNA。（）

三、填空題

1病毒的結(jié)構(gòu)包括（）和（）。

2感染細菌的病毒叫做（），依其與宿主細胞的關(guān)系可分為（F因子是由（）組成的，可以看做（）以外的遺傳物質(zhì)。4轉(zhuǎn)導(dǎo)與轉(zhuǎn)化、性導(dǎo)的不同之處在于它以（）為媒介的。5從結(jié)構(gòu)上講（）是最簡單的生物。6轉(zhuǎn)導(dǎo)可分為（）轉(zhuǎn)導(dǎo)和（）轉(zhuǎn)導(dǎo)。

7影響供體DNA與受體細胞的互作的因素有（）、（）、（8細菌的遺傳轉(zhuǎn)化包括（）、（）和（）。

四、簡答題

1簡述細菌和病毒在遺傳研究中的優(yōu)越性？）和（）。）和（）兩大類型。

2.F+、F-和Hfr菌株有何區(qū)別？

3比較轉(zhuǎn)化，接合，轉(zhuǎn)導(dǎo)，性導(dǎo)在細菌遺傳物質(zhì)傳遞上的異同？

4簡述部分二倍體的重組與真核生物中完整的二倍體重組的不同？

5簡述F’因子使細菌帶有哪些突出特點？

五、論述題

1論述性導(dǎo)在大腸桿菌的遺傳學(xué)研究的作用？

普通遺傳學(xué)作業(yè)題

（八）第八章

一、基因的表達與調(diào)控 名詞解釋

1基因

2順式排列

3反式排列

4順反測驗

5順式調(diào)控

6反式調(diào)控

7基因調(diào)控

8負調(diào)控

9正調(diào)控

10乳糖操縱元模型

11轉(zhuǎn)錄因子

12轉(zhuǎn)錄強化子 13激活子

14自動調(diào)控

15甲基化

16信號肽

二、判斷題 負調(diào)控與正調(diào)控并非相互排斥的兩種機制。（）2 在降解代謝途徑中，既有正調(diào)控又有負調(diào)控。（）3 阻遏蛋白只有兩個結(jié)合位點。（）4 染色體結(jié)構(gòu)的變化可以控制基因表達。（）5 甲基化可以降低轉(zhuǎn)錄效率。（）6原核生物基因也有TATA盒結(jié)構(gòu)。（）7強化子只能位于基因的上游。（）

8哺乳動物產(chǎn)生的每一種抗體都具有與抗原結(jié)合的能力。（）9所以真核生物的基因都只有一個啟動子。（）10我們說的基因不表達通常指基因完全不表達。（）

11乳糖操縱元中的“開關(guān)”系統(tǒng)也適合合成代謝途徑中的基因調(diào)控。（）12真核生物翻譯多肽的過程是在細胞核中完成的。（）

三、填空題

1原核生物基因表達的調(diào)控主要發(fā)生在（）。2在真核生物中，（）是細胞分化和功能的核心。3 DNA變化包括基因的（）、（）和（）。4 真核生物基因啟動子包括所有（）以及（）。強化子與啟動子不同，（）是轉(zhuǎn)錄起始和達到基礎(chǔ)水平所必須的，而（到最高水平。

6正激活子包括（）和（）。

7大部分遺傳性狀都是直接或間接通過（）表現(xiàn)出來的。8基因?qū)τ谶z傳性狀的表達的作用可分為（）與（）。9（）作用是色氨酸操縱元調(diào)控中的關(guān)鍵。

10內(nèi)含子蛋白質(zhì)的一個重要特點是具有（）的能力。

四、簡答題

1經(jīng)典遺傳學(xué)和分子遺傳學(xué)關(guān)于基因概念的不同？

2隨著基因結(jié)構(gòu)和功能的深入研究，可將基因分為哪幾種類型？）則可以使轉(zhuǎn)錄達3按照現(xiàn)代遺傳學(xué)的概念，基因根據(jù)重組、突變、功能可分為哪幾個單位？

4簡述原核生物轉(zhuǎn)錄水平的調(diào)控的特點？

五、論述題

1論述真核生物基因調(diào)控的特點？

普通遺傳學(xué)作業(yè)題

（九）第九章

一、基因工程和基因組學(xué) 名詞解釋

1基因工程

回文對稱序列

3柯斯質(zhì)粒

4穿梭載體 5基因庫

6核基因庫

cDNA庫

8植物基因轉(zhuǎn)化 9基因組學(xué)

10后基因組學(xué)DNA微列陣

12蛋白質(zhì)組學(xué) 13生物信息學(xué)

14Western雜交

15植物基因轉(zhuǎn)化

16基因槍植物轉(zhuǎn)化 17基因治療

18DNA芯片

19輻射雜交系

二、判斷題 經(jīng)過限制性酶切的基因皆產(chǎn)生粘性末端。（）2熒光原位雜交是遺傳圖譜構(gòu)建的方法。（）

3當供體材料總DNA等量時，DNA雜交帶的信號強弱與該標記位于得染色體劑量成正比。（）

三、填空題

1廣義遺傳工程包括（）、（）、（）等。

2Ti質(zhì)粒具有（）、（）、（）、（）和（）五個功能區(qū)域。一般說來，一個基因就是編碼一條多肽鏈的一個DNA片段，包括（4根據(jù)克隆的核酸序列、來源，基因庫可分為（）、（）、（5常用的染色體定位方法有（）（）（）。6PCR反應(yīng)包括（）、（）和（）三個步驟。

四、簡答題

1基因工程技術(shù)主要包括的內(nèi)容？

2載體應(yīng)具備的條件？

3簡述基因圖譜的應(yīng)用？

4簡述Southern雜交的步驟？

5簡述Nouthern雜交的步驟？

6簡述基因組計劃可分為幾部分？

五、論述題

1論述如何構(gòu)建植物圖譜？

2論述物理圖譜的構(gòu)建途徑？、（）和（）、（）等。）。）

普通遺傳學(xué)作業(yè)題(十)第十章 基因突變

一、名詞解釋 1基因突變 2突變體

3位點

4座位

5轉(zhuǎn)座遺傳因子

6插入因子

7轉(zhuǎn)座子

8Mu噬菌體

9大突變

10微突變

11自交不親和性

12中性突變

二、判斷題

1基因突變是隨機的。（）

2突變可以發(fā)生在生物體發(fā)育的任何時期。（）3基因突變通常是對立發(fā)生的。（）4突變就是基因內(nèi)不同座位的改變。（）5高等生物的突變率比低等生物的突變率高，（）6只有體細胞能夠發(fā)生突變。（）

7鑲嵌范圍的大小取決于突變發(fā)生時期的早晚。（）8具有突變的方向是不定的，可以多方向發(fā)生。（）9正突變與反突變發(fā)生的頻率是一樣的。（）

三、填空題

1（）發(fā)生的突變可以通過受精過程直接傳給后代，而（2突變的發(fā)式主要有（）和（）。3突變可分為（）突變和（）突變。

4DNA的修復(fù)主要有（）、（）、（）和（5在多數(shù)情況下正突變率總是（）反突變率

四、簡答題

1基因突變的一般特征是什么？）不能。）四種形式。DNA的防護機制？

3簡述誘變劑的誘變機理？

4基因突變的平行性說明什么問題，有何實踐意義？

5簡述重組修復(fù)的步驟？

五、論述題

1轉(zhuǎn)座因子的應(yīng)用？

普通遺傳學(xué)作業(yè)題(十一)第十一章

細胞質(zhì)遺傳

一、名詞解釋

1核遺傳

2細胞質(zhì)遺傳

3母性影響

4共生體 5雄性不育性 6附加體 7質(zhì)核不育型

二、判斷題

1雄性不育的植株不能結(jié)實。（）2雄性不育是由核基因決定的。（）

三、填空題

1可遺傳的雄性不育性可分為（）和（）等多種類型。2（）是雄性不育基因的載體。

四、簡答題

1細胞質(zhì)遺傳和母性影響的區(qū)別？

2簡述雄性不育性的主要特征？

3質(zhì)核不育型的特點？

4什么叫細胞質(zhì)遺傳？它有哪些特點？

普通遺傳學(xué)作業(yè)題(十二)第十二章 遺傳與發(fā)育

一、名詞解釋

1細胞全能性

2植物的誘導(dǎo)抗性

二、判斷題

1細胞的僅由細胞核起作用。（）2生物個體的發(fā)育與環(huán)境無關(guān)。（）

3高等生物受精卵的初期分裂就是不等的。（）

三、填空題

1（）和（）是細胞生存必不可少的兩部分。

四、簡答題

1如何理解細胞核和細胞質(zhì)在個體發(fā)育中的相互依存？

2個體發(fā)育的特點？

五、論述題

1簡述利用植物細胞的全能性在作物育種上獲得的成就？

普通遺傳學(xué)作業(yè)題(十三)第十三章

數(shù)量遺傳

一、名詞解釋

1廣義遺傳率 2狹義遺傳率 3質(zhì)量性狀 4數(shù)量性狀 5加性效應(yīng) 6顯性效應(yīng) 7雜交 8異交

9近交 10雜種優(yōu)勢 11平均優(yōu)勢 12超親優(yōu)勢 13雜種劣勢 14主效基因 15微效基因

二、判斷題

1遠親交配能表現(xiàn)雜種優(yōu)勢。（）

2多基因控制的一般表現(xiàn)質(zhì)量性狀的特征。（）

三、填空題

1生物群體的變異包括（）和（）。2個體的表現(xiàn)型值是（）和（）的總和。3數(shù)量性狀QTL定位的基礎(chǔ)需要有（）。4在數(shù)量性狀遺傳中，基因型方差可分解為3個部分（）、（）、（）。

四、簡答題

1.何謂質(zhì)量性狀和數(shù)量性狀，它們的區(qū)別在哪里?

2簡述多基因?qū)W說？

3區(qū)間作圖法的優(yōu)點與問題？

4簡述雜種優(yōu)勢的三種類型？

5雜種優(yōu)勢表現(xiàn)的特點？

普通遺傳學(xué)作業(yè)題

（十四）第十四章

群體遺傳與進化

一、名詞解釋

1群體遺傳學(xué)

2孟德爾群體

3基因型頻率

4等位基因頻率

二、判斷題

1當環(huán)境條件或遺傳結(jié)構(gòu)改變時，等位基因頻率也會改變。（）

三、簡答題

1簡述哈迪-魏伯格定律的要點？

第三篇：普通遺傳學(xué) 第13章 教案

第13章 基因突變 教案

基因突變在動物、植物、細菌和病毒中廣泛存在，人類可利用基因突變進行育種。

基因突變既可自然發(fā)生也可人工誘變，而且誘發(fā)突變成位育種材料的一種重要手段。

一、目的和意義

了解基因突變的種類，原因以及突變與性狀表現(xiàn)的關(guān)系。如何誘發(fā)基因突變。

二、重點內(nèi)容：

1、自發(fā)突變的原因（輻射。溫度的極端變化。過高或過低?；瘜W(xué)物質(zhì)主要體內(nèi)或細胞內(nèi)某些生理、生化過程所產(chǎn)生的物質(zhì)的作用。）

2、基因突變的概念

基因突變的概念及其類別

最初突變的概念:DeVries1901～1903.研究月見草的變異,指突然發(fā)生的變異（實際上是染色體畸變）,現(xiàn)在遺傳學(xué)上指的突變一般指基因突變。

基因突變:由于基因內(nèi)部某一位點的結(jié)構(gòu)發(fā)生改變（化學(xué)變化）,使其由原來的存在狀態(tài)而變?yōu)榱硪环N新的存在狀態(tài),即變?yōu)樗牡任换颉Ｓ址Q為點突變（pointmutation）。帶有突變基因的細胞或個體叫做突變體（mutant）?；蛲蛔兪强梢赃z傳的。

3、類別:按其發(fā)生的原因可分為

(1)自發(fā)突變（spontaneousmutation）。豐自然情況下發(fā)生的突變。

(2)誘發(fā)突變（inducedmutation）。人們有意識地利用物理、化學(xué)誘變因素引起的突變。（射線、溫度）。這兩類突變在表現(xiàn)形式上沒有原則上的區(qū)別。

按其表形特征可分為

(1)形態(tài)突變型（mirphologicalmutation）。泛指外形改變的突變型。因為這類突變可在外觀上看到,所以又稱可見突變（visiblem.）。

(2)致死突變型（lethalmulations）:能引起個體死亡或生活力明顯下降的突變型。分顯隱性、全致死（>90%）、半致死（50～90%）、低活性（50～10%）。隱性致死較為常見。

(3)條件致死突變型:在一定條件下表現(xiàn)致死而在另外條件下能成活的突變型（conditionallethalmutation）。T4的溫度敏感型在25℃時能成活,42℃致死。(4)生化突變型（biochemicalmutation）。沒有形態(tài)效應(yīng)但導(dǎo)致某種特定生化功能改變的突變型。表現(xiàn)在補充培養(yǎng)基上能生長。

事實上,以上類型相互之間是有交叉的。幾乎所有突變都是生化突變。

4、基因突變的一般特征

A、自然條件下突變的頻率低。一般地，細菌和噬菌體等為10～10，高等生物10～10，然而，微生物繁殖周期短，實際更易于獲得突變體。突變還受生物體內(nèi)在的生理生化狀態(tài)，以及外界環(huán)境條件（包括營養(yǎng)、溫度、化學(xué)物質(zhì)和自然界的輻射等）的影響，其中以生物的年齡和溫度的影響比較明顯。比如在誘變條件下，一般在0-25℃的范圍內(nèi)，每增加10℃突變率將提高2倍以上。當溫度降到0℃時也有所增加，在老齡種子的細胞內(nèi)，常產(chǎn)生某種具有誘變作用的代謝產(chǎn)物——自發(fā)誘變劑，從而提高了突變頻率。B、突變的多方向性

突變的多方向性也是相對的，是在一定范圍內(nèi)的多方向性。C、突變的重演性：

同種生物中同一基因突變可在不同個體間重復(fù)地出現(xiàn)。也的也稱為平行性。-

4-10

5-8D、突變的可逆性：

一個叫正向突變，一個叫回復(fù)突變。E、突變的平行性：

親源關(guān)系相近的物種因遺傳基礎(chǔ)比較近似，往往發(fā)生相似基因突變。F、突變的有利性與有害性：

多數(shù)突變改變了原來的功能，功能的改變對生物往往有害。當然少數(shù)個別的是有利的（如大腸桿菌的抗性突變等），還有少數(shù)既無害又無利——中性突變。突變發(fā)生的時期和部位：

G突變可發(fā)生在任何時期，任意部位。

發(fā)生在體細胞——當代表現(xiàn)；發(fā)生在生殖細胞——傳給后代。

控制細胞分裂的基因發(fā)生了突變——癌癥，造成某些功能的喪失，后期死亡的速度很快，為當代表現(xiàn)，為體細胞的變化。

5、基因突變的誘導(dǎo)：物理因素（電離輻射、非電離輻射）

化學(xué)因素（堿基類、烷化劑、抗生素類）

6、基因突變的鑒定（1）利用分離規(guī)律 1.顯性突變: 2.隱性突變:

由于處于雜合狀態(tài)而不表現(xiàn),在進行雜合體自交或偶然自交的情況下才能表（第二代有純合的隱性突變型）。

（2）微生物營養(yǎng)缺陷型的測定篩選方法

7、基因突變的分子基礎(chǔ)（1）突變的兩種方式

a堿基替代(basesubstitution)：某一位點的一個堿基對被其他堿基對取代。堿基替換包括兩種類型。

轉(zhuǎn)換（transition）：是同型堿基之間的替換,即一種嘌呤被另一種嘌呤替換?；蛞环N嘧啶被另一種嘧啶替換。

顛換（transversion）：嘌呤和嘧啶之間的替換。即嘌呤為嘧啶代替,嘧啶為嘌呤代替。

b移碼突變：DNA分子中增加或減少一個或幾個堿基對,引起密碼編組的移動（frameshiftmutation）。（2）、突變產(chǎn)生的機理 a．互變異構(gòu)化：

一個質(zhì)子的位置變化而改變了堿基氫鍵的特性。b．堿基類似物（baseanalogues）：

是在化學(xué)結(jié)構(gòu)上與DNA的堿基很相似的物質(zhì),在DNA復(fù)制時,“冒充”堿基摻入到DNA鏈中去。c．亞硝酸（HNO2）的作用： 具有氧化脫氨的作用。

d．烷化劑的作用：

具有一個或多個活性烷基的化合物（alkylatingagents）

作用：使DNA中的堿基發(fā)生烷化作用。如添加甲基或乙基,產(chǎn)生配對誤差。如甲基磺酸乙酯（EMS）e．吖啶類化合物：

原黃素,吖啶橙等。為三環(huán)扁平的分子,大小與堿基對的大小差不多,能與DNA結(jié)合,嵌入DNA的堿基對之間,使相鄰的兩個堿基對的距離拉長,使DNA雙鏈歪斜,導(dǎo)致DNA交換時出現(xiàn)參差,結(jié)果導(dǎo)致不等交換,產(chǎn)生移碼突變。

吖啶類誘發(fā)的突變的一個重要特征是：吖啶類化合物所誘發(fā)的突變能用吖啶類來回復(fù),但不能用堿基替換來回復(fù)。假使在一個堿基插入點的附近,以后又丟失了同樣數(shù)目的堿基或者相反,突變效應(yīng)往往可以被抑制。但這不是真正的回復(fù)突變,而是抑制突變。如果兩個位點中還包括終止密碼,就不能回復(fù)。

三、難點內(nèi)容：

1、性狀的變異與原因

2、基因突變的鑒定

3、基因突變的分子基礎(chǔ)

四、課程時間安排 第一節(jié)基因突變的時期

1、基因突變的時期

2、一般特征 第二節(jié)基因突變與性狀表現(xiàn)

1、顯性突變與隱性突變的表現(xiàn)

2、大突變和微突變的表現(xiàn)

第三節(jié)基因突變的鑒定

1、植物基因突變的鑒定

2、生化突變的鑒定 第四節(jié)基因突變的分子基礎(chǔ)及誘發(fā)

1、突變的分子機制

2、突變的修復(fù)

3、物理因素和化學(xué)因素

五、參考文獻

華北農(nóng)業(yè)大學(xué)等，1976，植物遺傳育種學(xué)，北京，科

學(xué)出版社

楊業(yè)華，2000，普通遺傳學(xué)，北京，高等教育出版社 賀竹梅，2002，現(xiàn)代遺傳學(xué)教程，廣州，中山大學(xué)出

版社

劉祖洞，1991，遺傳學(xué)，北京，高等教育出版社 浙江農(nóng)業(yè)大學(xué)主編，遺傳學(xué)，1989，北京，農(nóng)業(yè)出版社 蔡旭主編，植物遺傳育種學(xué)，1988，北京，農(nóng)業(yè)出版社

第四篇：普通遺傳學(xué) 第8、9章 教案

第八、九章 染色體變異 教案

染色體變異分為結(jié)構(gòu)變異和數(shù)目變異。結(jié)構(gòu)變異包括缺失、重復(fù)、倒位和易位，均由染色體斷裂引起；數(shù)目變異包括整倍體變異和非整倍體變異。常見的整倍體變異有單倍體、同源多倍體和異源多倍體，非整倍體變異有單體和三體。

一、目的和意義

了解染色體結(jié)構(gòu)變異和數(shù)目的主要方式及由此引起的結(jié)果。

二、重點內(nèi)容：

1、染色體結(jié)構(gòu)變異的類型

（1）缺失—一條正常的染色體丟失常有基因的片段

A 方式：中間缺失、頂端缺失 B類型：缺失雜合體、缺失純合體

C缺失的遺傳效應(yīng)：不利性。不利程度取決于缺失片斷上基因的數(shù)量和重要性。缺失純合體不利性遠大于雜合體。假顯性（缺失雜合體）。植物缺失的染色體多通過卵細胞來傳遞。因為帶有缺失染色體的雄配子常是敗育的，即使不敗育競爭力也差。而卵細胞在母體內(nèi)，耐受性比雄配子強。

D鑒定：細胞中有無斷片、微核、及同源染色體配對情況/缺失環(huán)。缺失雜合體中間缺失較長時同源染色體配對時出現(xiàn)。配對的同源染色體末端長短不一（端部缺失區(qū)段較長）有時出現(xiàn)“斷裂—融合—橋”循環(huán)

（2）重復(fù)——染色體重復(fù)自己染色體的某段基因

A類型：重復(fù)雜合體、重復(fù)純合體

B遺傳效應(yīng)：不利性。程度比缺失輕，正常的二倍體中的兩套基因處于平衡狀態(tài)。重復(fù)影響到基因平衡。（3）倒位——一條染色體的發(fā)生兩處斷裂，斷裂間的染

色體片段倒位180°之后的結(jié)合的現(xiàn)象。

A類型：臂間倒位、臂內(nèi)倒位 B原因：減數(shù)分裂、理化因素誘導(dǎo)

C遺傳效應(yīng)：改變了連鎖基因之間的重組值，變大或變小。倒位區(qū)段內(nèi)的基因表現(xiàn)出很強的連鎖關(guān)系。減數(shù)分裂時可見到橋和斷片。

（4）易位——某一染色體的斷裂片段轉(zhuǎn)移到另一非同源染色體上

A類型：單向易位(少見)、相互（常見）

B遺傳效應(yīng)：改變了原來的連鎖關(guān)系；易位雜合體往往出現(xiàn)半不育。同源染色體分開時，到達兩極時形成四種配子，有一半不育。易位雜合體出現(xiàn)假連鎖現(xiàn)象。由于相鄰式分離配子，交替式分離配子可育，因而可育配子只能是易位染色體和非易位染色體進入不同配子中，結(jié)果使非同源染色體上基因的自由組合受到嚴重的抑制，出現(xiàn)假連鎖，在雄果蠅中表現(xiàn)尤明顯。在鄰近易位接合的一些基因之間的重組值有所降低。

C鑒定：相互易位為雜合體，易位較長時，在減數(shù)分裂時，形成“十”字形結(jié)構(gòu)。

2、常見的染色體數(shù)目變異的類型中相關(guān)的基本概念 染色體組（genome）：在一個染色體組內(nèi)的各個染色體在形態(tài)、結(jié)構(gòu)和功能方面互不相同，但卻是一個和諧的整體，對于細胞或個體的發(fā)育來說，是缺一不可的。

一倍體（monoploid）：只含有一個染色體組的個體或細胞，如二倍體生物的配子，如玉米x=10，蜜蜂的雄蜂x=16 二倍體（diploid）：含有二個染色體組的個體或細胞。一般生物。

三倍體（triploid）：具有三個染色體組的細胞或個體。如三倍體西瓜。

四倍體（tetraploid）：具有四個染色體組的細胞或個體。如4倍體蕃茄x=124x=48 多倍體（polyploid）：細胞或個體中的染色體組數(shù)多于二個。

整倍體（euploid）：一倍體、二倍體、多倍體，這類染

色體的變化是以染色體組為單位的增減，所以稱為倍數(shù)性變異，而把體細胞

內(nèi)含有完整的染色體組的類型稱為整倍體（euploid）。

非整倍體（uneuploid）：如果在二倍體的基礎(chǔ)上，增加

或減少個別染色體，則屬于非整倍性（uneuploidy）變異，這種變異的細胞或個體叫非整倍體（uneuploid）。

同源多倍體：加倍的染色體組來源相同，由二倍體本身的染色體加倍而成?，F(xiàn)已成功誘變出水稻、大麥、黑麥、桑、茶、葡萄、西瓜、板栗等多種四倍體植物。

異源多倍體：加倍的染色體組來源于不同的物種。被子植

物中約有30～35%是異源多倍體物種。小麥、燕麥、棉花、煙草、蘋果、梨、櫻桃以及菊、大麗菊、水仙、郁金香等。

三、難點內(nèi)容：

1、染色體結(jié)構(gòu)變異的發(fā)生現(xiàn)象的解釋

2、染色體結(jié)構(gòu)變異的遺傳效應(yīng)

3、同源多倍體和異源多倍體的區(qū)別

四、課程時間安排： 第一節(jié)染色體結(jié)構(gòu)變異

1、缺失

2、重復(fù)3倒位、4、易位 第二節(jié)染色體數(shù)目變異

1、倍數(shù)性的變異

2、非倍數(shù)性的變異

五、參考文獻

浙江農(nóng)業(yè)大學(xué)主編，遺傳學(xué)，1989，北京，農(nóng)業(yè)出版社 李競雄，宋同明，植物細胞遺傳學(xué)，1993，北京，科學(xué)出版社

GriffithaA.J.F.etal,1999,ModernGenetiAnalysis.NewYork 王亞馥，戴灼華，1999，遺傳學(xué)，北京，高等教育出版社

第五篇：遺傳學(xué)雙語教學(xué)習(xí)題

山東農(nóng)業(yè)大學(xué)

遺傳學(xué)雙語教學(xué)章節(jié)習(xí)題

Problems and Questions

Contents

Chapter 1 An introduction to Genetics Chapter 2 Cytology for Genetics —— Mitosis and Meiosis Chapter 3 Molecular basis for Genetics Chapter 4 Mendelian Genetics Chapter 5 Linkage and Sex linkage Chapter 6 Chromosome Mutations: Chromosomal Changes, Monosomy, Trisomy, Polyploidy, Structural Changes Chapter 7 Genetics in Bacteria and Bacteriophages Chapter 8 Gene expression and Control Chapter 9 Gene Engineering and Genomics and Proteomics Chapter 10 Gene Mutation Chapter 11 Extranuclear Inheritance and Maternal Effect Chapter 12 Genetics and Development Chapter 13 Quantities Genetics Chapter 14 Population genetics and Evolution

Chapter 1 An introduction to Genetics

1.Distinguish between haploid and diploid in a manner that makes it clear that you know what each is and how the two differ.2.Define the term “gene”.Include in your answer a brief description of the function of a gene.3.Distinguish between transcription and translation in a manner that makes it clear that you know what each is and how the two differ.4.What is a gamete and why is it considered important in the study of genetics? 5.What is a zygote and why is it considered important in the study of genetics?

6.Distinguish between gene and genome in a manner that makes it clear that you know what each is and how the two differ.7.In molecular terms, how would you define mutation?

8.How is the information that specifies the amino acid sequence of a protein passed from one generation to the next?

9.Distinguish between genotype and phenotype in a manner that makes it clear you know what each is and how the two differ.10.What genetic mechanisms make it possible for individuals with different genotypes to exhibit the same phenotype.11.What is a chromosome and how does it differ from a gene?

12.Can a gamete be heterozygous? Explain the reasoning behind your answer.13.A typical organism has far more genes than chromosomes.Will all of the genes exhibit independent assortment? Explain the reasoning behind your answer.Chapter 2 Cellular basis of Genetics

1.Distinguish between mitosis and meiosis in a manner that makes it clear that you know what each is and how they differ.2 2.Compare the length of the meiotic prophase in human males and females.Which more closely resembles mitotic prophase.How do both differ from mitotic prophase?(See page 332 of the textbook if you have difficulty with this question).3.Briefly summarize the major events in a haploid-diploid life cycle.Identify a species with a predominantly haploid life cycle and a species with a predominantly diploid life cycle.4.What abbreviations are used to designate the four parts of the mitotic cell cycle and what does each stand for?

5.Distinguish between karyokinesis and cytokinesis in a manner that makes it clear that you know what each is and how they differ.6.Name and briefly describe the four stages that mitosis is commonly divided into.(Caution, this is not a repeat of question 4).7.Describe two distinctly different processes that occur during meiosis to bring about mixing of the two parental genotypes during formation of gametes.Identify the stage of meiosis at which each occurs as precisely as you can, and briefly describe the mechanisms that are involved.8.Identify the five stages of meiotic prophase and briefly describe each, including important genetic events that are occurring during that phase.9.What role does mitosis play in a sexual life cycle?(Why do sexually reproducing organisms need mitosis at all?)

10.At what stage of meiosis does crossing over(genetic recombination)occur?(see page 331 of textbook if you are uncertain).11.What are chiasmata and what is their genetic significance?

12.At what stage of meiosis is independent assortment of unlinked genes achieved? What is the mechanism that is involved?

13.At what stage during meiosis do the centromeres of the individual sister chromatids separate? 14.At what stage of meiosis is the chromosome number reduced to haploid(bivalents with sister chromatids still paired count as single chromosomes).15.At what stage of meiosis is the DNA content per gamete reduced to haploid?

16.In terms of genetic uniformity of the ultimate products of each process, how do mitosis and meiosis differ?

17.What is a lampbrush chromosome and under what circumstances is it observed?

Briefly define each of the folowing and explain its genetic significance or its significance to the study of genetics.a.Homologous chromosomes.b.Tetrad.c.Synaptonemal complex d.Biparental inheritance.e.Gametophyte.19.What are the consequences of nondisjunction during one or the other of the meiotic divisions? 20.A human female has 23 pairs of chromosomes.Assuming that the members of each pair differ from each other, how many different different gametes does she have the potential ability to generate, based on independent assortment alone?

21.Meiosis in a female generates one ovum and 3 polar bodies, whereas in a male meiosis generates 4 spermatozoa.Does this result in four times as much genetic diversity in male gametes as in female gametes? Explain the reasoning behind your answer.22.The part of the mitotic cell cycle that was originally viewed simply as “interphase” is now viewed quite differently.a.How was interphase defined and what criteria were used to define it?

b.Identify the three parts that interphase is now divided into and explain the original significance of each of the three parts.c.How has modern research changed our view of the first and third segments of “interphase”? 23.Meiosis generates genetic diversity, whereas mitosis maintains genetic constancy.Explain how this is advantageous to the organism.24.There is evidence that transcription continues in oogenesis, even after meiotic prophase has begun.a.What is the evidence for transcription during meiotic prophase? b.Speculate on what biological purpose such transcription serves.Chapter 2 Cellular basis of Genetics(Molecular basis for Genetics)1.Briefly summarize the flow of information from a gene to a final gene product, including the form that the information takes at each step along the way and the names of the major processes that are involved in achieving the flow of information.2.Distinguish between prokaryotic and eukaryotic in a manner that makes it clear that you know what each is and how they differ.4 3.Summarize two different lines of evidence that have demonstrated that DNA is the primary carrier of genetic information.4.Identify the four nitrogenous bases that are used for the coding of genetic information in DNA.How are they related to the bases used for coding genetic informaiton in RNA?

5.What are the chemical differences between DNA and RNA? You should be to identify two that are always true and a third that is usually true.6.What is a phosphodiester link and how does it give polarity to nucleic acids? 7.Identify the base pairs in DNA.Which pairs are more stable and why? 8.What is meant by the term “antiparallel” as it applies to double helical DNA?

9.Distinguish between sense and antisense strands in a manner that makes it clear you know what each is and how they differ.10.What factors determine how rapidly DNA renatures after being denatured?

11.Distinguish between transcription and translation in a manner that makes it clear that you know what each is and how they differ.12.Explain how electrophoresis can be used to separate nucleic acid molecules by size.What role does the gel play in the process?

13.The nucleotide sequence of the sense strand of a double helical DNA molecule is ATGCGTAACTAACCG.a.What nucleotide is at the 5'-end? b.What nucleotide is at the 3'-end?

c.How would you distinguish the 5'-end from the 3'-end if the bases were the same at both ends? d.What is the nucleotide sequence of the complementary strand?(You always start at the 5'-end when describing a nucleotide sequence).e.What will be the nucleotide sequence of the mRNA that is transcribed from this DNA? 14.Ribose and deoxyribose are both 5-carbon sugars.a.What is the difference between ribose and deoxyribose?

b.What is attached to carbon #1 of these sugars when they are in nucleic acids? c.What is attached to carbon #3 of these sugars when they are in nucleic acids? d.What is attached to carbon #5 of these sugars when they are in nucleic acids?

e.Ribothymidine is an unusual nucleoside that can be recovered from certain types of transfer RNA(transfer RNAs contain a variety of modified bases).What is unusual about finding ribothymidine in a nucleic acid? 15.The genome of E.coli is a closed circle of double helical DNA that contains 4,639,221 base pairs(based on sequence analysis-see page 208 of the textbook).Based on your knowledge of the DNA double helix, answer the following.a.What is the thickness on one base pair in double helical DNA?

b.How many complete turns of the double helix are contained in the E.coli genome? c.What is the circumference of the circular genome when it is laid out as a perfect circle? d.What is the diameter of the genome when it is laid out as a perfect circle.e.An E.coli cell is relatively short cylinder only about 2 micrometers in diameter.How can that much DNA fit into it.(Hint, look at figures 7.6 and 7.7).16.What does each of the following abbreviations stand for? a.ATP b.dGTP c.UMP d.RNA e.cAMP f.mRNA g.TDP

17.Explain the importance of the flat planar structure of DNA base pairs to the double helical structure of DNA?

18.Explain why AC and GT base pairs do not normally form.(You will have to go to Example 2.3 on page 31 of the textbook to answer this one--I expect you to read the textbook in addition to the lecture notes!)

19.Distinguish between nucleoside and nucleotide in a manner that makes it clear that you know what each is and how they differ.20.One very promising technique for inhibiting unwanted gene expression is the use of antisense RNA, which has a sequence identical to that of the antisense strand of DNA(except for replacement of T with U).Speculate on how antisense RNA might inhibit functional gene expression, based on what has been presented in the course thus far.(We will examine what actually happens later in the semester).Chapter 3 Mendelian Genetics

1.Describe the genotypic and phenotypic ratios for each of the following(assume the parental generations are true breeding when not stated otherwise): a.The F2 of monohybrid cross with full dominance b.The F2 of monohybrid cross with partial dominance c.The F2 of a monohybrid cross with codominance.d.The F2 of a dihybrid cross with full dominance at each genetic locus and no interactions between alleles at the two loci.e.The F2 of a dihybrid cross with partial dominance at both loci and no interactions between alleles at the two loci.f.The F2 of a dihybrid cross with codominance at both loci and no interactions between alleles at the two loci.2.How would you distinguish between partial dominance and codominance(Be careful, you can get yourself thoroughly confused if you try to carry this too far).3.How would you distinguish between partial dominance and full dominance(again be careful).4.Describe a situation in which full dominance by certain criteria becomes partial dominance when examined by other criteria.5.Briefly describe three different genetic mechanisms that can cause the phenotype of a heterozygote A1A2 to be different from that of either of the corresponding homozygotes.A1 and A2 are alleles at the same genetic locus, but you may designate any type of relationship between the two of them that you wish, as long as it corresponds to something that happens in real life.Cite an example of each of the mechanisms that you propose.(Yes, there really are at least three possibilities!)

6.When two indivduals exhibiting dominant traits associated with homozygous lethality(for example, Manx cats)are crossed, altered Mendelian ratios are observed among the progeny.a.What phenotypic ratio is observed among the immediate progeny of such a cross? b.What mechanism is responsible for the altered phenotypic ratio?

c.Explain why it is not possible to obtain a true-breeding strain of Manx cats.d.What is the rationale for calling such a trait dominant when it is impossible to obtain a true-breeding line in order to do a classical dominant x recessive cross?

e.Explain the potential relationship between dominant lethal alleles and haploinsufficiency.7.Explain how a short deletion can generate phenotypic behavior that appears to be dominant lethal, but actually involves two separate genes.8.Why are dominant lethal alleles rarely observed in nature, as opposed to laboratory or domesticated strains?

9.There are three different alleles at the genetic locus responsible for human ABO blood types.a.What mechanism prevents all three alleles from being expressed in a single individual? b.Would it make any difference if all three alleles were codominant? Explain your answer.c.A woman with blood type A is married to a man with blood type B.Their first child is type O.Describe two distinctly different mechanisms that might allow this to happen.d.If only the ABO locus is involved, what blood types would be expected and in what ratio if the couple in part c have enough additional children to include all possible types.Ignore statistical problems due to small sample size.e.How does the ABO*O allele differ from the ABO*A and ABO*B alleles?

10.How many different genotypes are possible at a locus that has 5 alternative alleles? 11.How many of the genotypes in problem 10 can be observed in any one individual?

12.A man is blood type A and his wife is blood type B.Their first child is a girl with blood type O.a.What are the genotypes of the parents?

b.What was the probability of that child's birth among all of the other possible children that the couple could have had?(Be sure to consider both blood type and gender.)c.What is the probability that the next two children will both be blood type A? d.What is the probability that those two children will be one boy and one girl?

e.The couple ultimately has six children.Knowing that the first is a girl with blood type O, what is the probability that they will have two more girls with blood type O?(Be careful--this question is designed to confuse you!)

f.What is the probability that the fourth child will be a boy with blood type AB and the fifth a girl with blood type B?

13.Explain how a single point mutation can have multiple different phenotypic effects.What name is applied to this phenomenon?

14.Briefly explain how each of the following behaves in genetic analysis, including the mechanisms that are involved when they are known.a.Gain of-function-mutation.b.Leaky mutation

c.Dominant loss-of-function mutation d.Haploinsufficiency e.Codominance

15.In Drosophila genetics, e designates ebony body and L designates lobed eyes.What phenotype would you expect for each of the following.a.e/e+

b.e/e

c.L/+

d.e/e+ L/L+

e.L+/L+

16.Explain why an individual who is FUT1*O/*O and ABO*A/*B fails to exhibit the AB blood type.17.What syndrome would you expect an individual who has the genotype HBB*E7V/*E7V to exhibit.(HBB refers to the hemoblobin beta globin subunit.If you need more information, see textbook pages 159-161 and remember that the N-terminal methionine is removed soon after translation occurs.18.What circumstances would lead to each of the following phenotypic distributions in the F2 generation?.a.9:3:3:1 b.6:3:3:2:1:1 c.4:2:2:2:2:1:1:1:1 d.2:1 e.3:1 19.Briefly define each of the following, including a description of how you would verify that it was occurring:.a.Dominant inhibition of gene expression b.Codominance c.Complementary gene action.d.Duplicate gene action.e.Recessive epistasis.20.White leghorn chickens have normal pigment genes, but are white because of a dominant color inhibiting gene(I).White Plymouth rock chickens are white because they are homozygous for a recessive loss of pigmentation gene(c)that behaves much like the coat color gene(C/c)in mice.The genes are unlinked and neither is sex-linked.A true-breeding white leghorn(II CC)is crossed with a true-breeding white Plymouth Rock chicken(ii cc).a.What is the genotype of the F1 progeny? b.What is the phenotype of the F1 progeny?

c.Draw a Punnett square for the F2 whose individual squares are large enough to enter both the genotype and the phenotype of all possible combinations.Insert the genotypes and the phenotypes into the squares.d.What is the phenotypic ratio of the F2 progeny of the original cross?

21.What circumstances would lead to each of the following phenotypic distributions in the F2 generation? a.9:3:3:1 b.12:3:1 c.12:4 d.9:7 e.15:1 f.9:6:1 g.9:4:3

22.Explain how two parents who are both afflicted with a particular non-lethal phenotype, such as deafness, can have children who are not afflicted.You may make any assumptions you wish about the mode(s)of inheritance of the phenotype.You should be able to come up with two totally different answers for this question.23.Distinguish between penetrance and expressivity in a manner that demonstrates that you know what both are and how they differ.24.What mechanism is responsible for black ears and a white body coat on a Himalayan rabbit?

25.A true-breeding eyeless fly(ey/ey)is mated with a true-breeding brown eyed fly(bw/bw).Assume that both mutations are recessive and are located on different autosomes and that both have 100% penetrance(which is not always true for eyeless in real life).a.What will be the phenotype of the F1 progeny? b.What will be the phenotypic distribution when the F1 progeny are test corssed? c.What will be the phenotypic distribution of the F2 progeny of the original cross? d.What fraction of the brown-eyed F2 flies are heterozygous for the eyeless allele? e.What fraction of the wild-type F2 flies are heterozygous for the eyeless allele?

Chapter 4 Linkage and Sex linkage Lecture 30: Linkage, gene order, chromosomal maps

1.For all parts of this question, assume that both parts of the double crossover involve the same two strands of the tetrad.a.What is meant by the term double crossover?

b.How many linked genes must be analyzed to observe a double cross-over? c.What is the effect of a double crossover on the linkage pattern of the genes that are used to observe it?

d.How do you compensate for the effects of double crossovers when calculating map distance between the two outside markers? e.Explain why it is not possible to demonstrate double crossover when using only two markers.2.Describe the steps that must be taken to identify the middle gene in a three point cross.3.A female Drosophila heterozygous for linked autosomal genes, a, b, and c is crossed with a male that is homozygous recessive for all three genes.The female progeny exhibit the following phenotypes.+++, 340;abc, 350;++c, 45, ab+, 55;+b+, 95;a+c, 105;a++, 4;+bc, 6.Total flies counted = 1000.10 a.Which is the middle gene?

b.What is the corrected map distance between the two outside genes?

c.Why would a two point cross between the two outside genes not yield the same value as the corrected map distance?

d.What is the interference value for the double crossover?

e.Would it have made a difference in the original cross if the genes had been sex linked and the male was hemizygous for all three recessive alleles.Explain your answer.f.Could you use a wild type male in question e? Explain your answer.g.How would the observed results have differed if the male parent had been heterozygous and the female parent homozygous recessive?

4.You are working with three autosomal genes in Drosophila whose possible linkage is not known.A three point cross of a female heterozygous for all three genes with a male that is homozygous recessive for all three yields roughly equal numbers of all of the possible phenotypes.a.What alternative interpretations of the data are possible?

b.What additional experiments would be needed to distinguish among the possibilities? c.Would your answer to part b be the same if you were studying mutations in mice?

d.If you conclude in parts b or c that two of the genes are in fact linked, how would you determine the map distance between them.5.How many different alleles can exist at a given genetic locus? Can three different alleles at the same locus be used to perform a three point cross? Explain your answer.6.Three genetic loci, A/a, B/b, and C/c are all on the same autosome, with B located between A and C.The measured distance from A to B in a two point cross is 10 map units and the measured distance from B to C is 8 map units.The observed interference in a three point cross is 0.5.a.What would be the expected frequency of double crossovers if there were no interference? b.What will be the observed frequency of double crossovers?

c.What will be the frequency of each of the reciprocal double crossover phenotypes?

d.What will be the frequency of each of the reciprocal single crossover phenotypes(a total of four phenotypes).e.What will be the frequency of each of the parental phenotypes? 7.Mutations a and b each cause distinctly different phenotypes.A female Drosophila that is heterozygous at both loci has a wild-type pheontype.When she is test crossed, four types of progeny are produced(wild type, phenotype a, phenotype b, and phenotypes a and b)in numbers that are close enough to equal so that a chi-square test does not reject the null hypothesis for a 1:1:1:1 ratio.There is no difference in phenotype between male and female progeny.When a male of the same initial genotype is test crossed, only two types of progeny are obtained, phenotype a and phenotype b.a.How do you explain the apparent discrepancy between the results of these two test crosses? b.What conclusions can you reach about sex linkage of the two loci? c.What are the phenotypes of the true-breeding parents that were used to produce the original heterozygous females and males used in these two test crosses? d.How would the results have differed for a test cross of the female if both loci had been sex-linked? e.Explain how a double recessive male could be obtained for the test cross in part d(sex linked alleles).8.In test crosses of double heterozygotes, genes A and B yield ambiguous recombination frequencies that suggest possible linkage but do not statistically rule out possible independent assortment.A series of two point crosses(single crossovers)yields the following information: Gene C is 20 map units from Gene A.Gene D is 23 map units from gene A.Gene D is 40 map units from gene C.Gene E is 15 map units from gene B.Gene F is 25 map units from gene B.Gene F is 38 map units from gene E.Gene D is 10 map units from gene F Construct a map showing the relative positions and approximate map distances of all of these genes.a.What is the approximate distance in map units from gene A to gene B? b.How do you explain the ambiguous data obtained in a two point cross of genes A and B.c.Explain how the use of 3 point crosses might have simplified the process of developing your map.Sex Determination, Sex-Linked Inheritance

1.How do the XX/XY sex determination mechanisms differ between humans and Drosophila? How are they similar?

2.Do males of all species have Y chromosomes? Explain your answer.3.Briefly define each of the following and explain its significance to the study of genetics.a.Autosome.b.Homogametic.c.Heterogametic.d.SRY(Sry)e.Sxl

f.Mullerian inhibiting factor g.Hemizygous

4.The human gene that codes for the testosterone receptor is carried on the human X chromosome.a.What biological role does the testosterone receptor play?

b.What are the developmental consequences in an XY human who is hemizygous for a defective testosterone receptor gene?

c.Why is one unlikely to encounter human females who are homozygous for defective testosterone receptors? d.What aspects of normal female development are absent in individuals with testicular feminization and why?

e.Why is it not possible to reverse testicular feminization with testosterone injections? 5.What is a gynandromorph and how is it formed?

6.What is the difference between an X chromosome and a Z chromosome?

7.Can the gene that codes for the testosterone receptor be described as a sex-determining gene? Defend your answer.8.Why is the designation sex lethal(Sxl)not an accurate description of the role of the gene or of its loss of function mutation?

9.Distinguish between monoecious and dioecious in a manner that makes it clear you know what each is and how they differ.10.How does the pattern of inheritance of sex-linked genes differ from that of autosomal genes: a.for recessive alleles? b.for dominant alleles?

11.a and b are two genes located close together on the X chromosome in Drosophila, such that crossing over between them is a rare event that can be ignored for purposes of this problem.Assume that in both cases, wild-type is fully dominant.A female with the genotype aab+b+ is mated with a male of the genotype a+b.a.What will be the genotype and phenotype of male F1 progeny?

b.What will be the genotype and phenotype of the female F1 progeny? c.What will be the genotype and phenotype of male F2 progeny?

d.What will be the genotype and phenotype of the female F2 progeny?

12.Same problem as 4, except assume that a and b are located so far apart on the X chromosome that there is enough crossing over so that they appear to assort independently.However, crossing over does not occur in male Drosophila(and could not in this case anyhow, since there is only one X chromosome).Identify as many classes of progeny as you need to answer the question fully.13.Starting with a white-eyed male Drosophila and a wild-type female, describe the series of crosses that you would have to do to generate a true-breeding population.The white-eyed locus is on the X chromosome.14.You have collected a number of male Drosophila that exhibit numerous different mutant phenotypes.You also have access to a colony of wild-type Drosophila.Summarize the tests you would have to perform to verify that you had a mutant from each of the following categories in your collection.Assume that in every case the mutant flies carry only as many mutant alleles as they need to exhibit the phenotype.a.Sex-linked recessive.b.Sex-linked dominant.c.Autosomal recessive.d.Autosomal dominant that is not lethal when homozygous.e.Autosomal dominant that is lethal when homozygous.Linkage: recombination, map distance

1.Do genes that are carried on the same chromosome always demonstrate linkage? Explain your answer.2.What is a map unit? If two genes are 5 map units apart, what is their recombination frequency? 3.Can alleles of two unlinked genes affect the same phenotypic trait? Explain how you arrived at your answer.4.Can alleles be linked? Explain your answer.5.What is the minimum amount of information that must be provided to describe a diploid genotype? Can you infer anything about linkage from that information? Explain your answer.6.Why is a test cross usually used in preference to production of an F2 generation to measure linkage?

Compensation, Sex-Limited, Sex-Influenced Inheritance

1.What is the Lyon hypothesis and how has its validity been demonstrated?

2.Describe the relationship among the following: Barr body, heterochromatin, late replication, dosage compensation, mosaicism.3.Describe the major differences between dosage compensation in Drosophila and humans.4.Describe three different types of human sex chromosome trisomy.What is the sex in each case? What are the major phenotypic traits in each case? Describe the genetic mechanisms that are responsible for the trisomy in each case.5.Turner syndrome is the only viable human monosomy?

a.How does Turner syndrome arise?

b.Speculate on why individuals with Turner syndrome are viable when all other human monosomies are lethal.14 c.In view of your answer to part b, why do individuals with Turner syndrome enhibit any phenotypicdifferences from normal individuals.6.What is a Barr body and what is its significance?

7.What mechanism makes human aneuploidies that involve sex chromosomes more viable than human aneuploidies that involve autosomes?

8.Propose a possible genetic explanation for each of the following(hint, check pages 424-426 and 539 in the textbook):

A.A human male with two X chromosomes and no Y chromosome.B.A human female with normal testosterone receptors, who has one X and one Y chromosome.C.A female Drosophila with a Y chromosome.D.A male Drosophila with no Y chromosome.E.A human female with three X chromosomes

F.A human male with one X and two Y chromosomes

9.Describe two techniques that have greatly facilitated human karyotypic analysis.10.Describe the aneuploidy that you might expect to find in a male calico cat.11.What would your tentative diagnosis be in each of the following cases: A.A human female with no Barr bodies.B.A human female with one Barr body C.A human female with two Barr bodies, D.A human male with no Barr bodies.E.A human male with one Barr body.12.Briefly define each of the following and explain its significance to the study of genetics.a.Autosome.b.Homogametic.c.Heterogametic.d.Hemizygous e.Sex-limited f.Sex-influenced

13.How will the following differ in a ZZ/ZW system, compared to an XX/XY system? a.Which will be the homogametic sex in each?

b.Which sex will exhibit hemizygous expression of recessive genes in each?

c.Would you expect large numbers of essential genes to be carried on the W chromosome? Relate your answer to the Y chromosome.15 d.If a male is heterozygous for a Z-linked trait, how will it be expressed in his female progeny.e.Describe a comparable phenomenon in an XX/XY system.14.Distinguish among traits that are sex-linked, sex-limited, and sex-influenced.15.Explain how the use of attached X stocks of Drosophila allows direct trnasmission of X-linked mutations from father to son.Chapter 5 Chromosome Mutations: Chromosomal Changes, Monosomy, Trisomy，Polyploidy, Structural Changes

1.Distinguish between the following pairs in a manner that makes it clear that you know what each is and how they differ.a.Euploid and aneuploid b.Triploidy and trisomy

c.Autopolyploid and allopolyploid d.Hybrid and allopolyploid.e.Diploid and amphidiploid f.Homologous and homeologous.2.Why are allotetraploids more likely to be fully fertile than autotetraploids?

3.Describe a process for the experimental generation of a fertile allotetraploid from a sterile cross-species hybrid.4.Does the chromosome number of an allotetraploid have to be an even multiple of four? Explain your answer.Would your answer be different for an autotetraploid?

5.What is the agricultural significance of allopolyploids?(You should be able to think of more than one answer).6.Describe two distinctly different reasons why triploid plants may be preferred for certain agricultural crops.7.A fertile allopolyploid plant with a chromosome number of 38 is crossed with one of its parent species.Do you expect the progeny to be fertile? Explain your answer.8.Does the formation of an allotetraploid between two plant species insure that the most desirable properties of both will be found in the allotetraploid? Explain the reasoning behind your answer.9.What approach would you use to attempt to construct an allotetraploid from two plant species that are not capable of cross pollination? Describe the steps that are involved.16 10.How does a diploid banana differ from commercially sold bananas? 11.What problems stand in the way of fertility of triploid plants?

12.What features make polytene chromosomes particularly useful for the detection of altered chromosomal structure?

13.Where other than a polytene chromosome could one look to verify the existence of a chromosomal inversion or partial duplication? 14.Define the following terms a.Dicentric chromosome b.Tandem duplication c.Pseudodominance d.Paracentric inversion e.Unequal crossing over.15.Deletions, duplications and inversions all cause the formation of loops in polytene chromosomes.How would you distinguish among these three possibilities cytologically? What genetic traits would you look for to support your conclusions?

16.Describe the mechanisms that lead to the production of Doublebar progeny from crosses of males that are hemizygous for Bar eye with females that are homozygous for Bar eye.17.An inversion loop is more likely to cause severe problems during meiosis than a deletion loop.Explain the difference.18.Under what conditions is a duplication of genetic material not abnormal?

19.What special property distinguishes a deletion mutation from a typical missense point mutation(one that codes for the wrong amino acid)?

20.Explain how a deletion mutation can cause partial hemizygosity.21.What type of chromosomal change is particularly likely to result in a dominant phenotype with lethality in the homozygous state.What mechanism is likely to be involved in the lethality.22.Are all seedless fruits triploid? Explain your answer.Chapter 6 Genetics in Bacteria and Bacteriophages 1.Describe four distinctly different ways in which genes can be transferred into a bacterial cell.2.What is the shape of the linkage map of E.coli? How has this been shown? 3.What is the difference between an F+ strain and an Hfr strain? Which is the most useful in bacterial genetic analysis and why?

4.What units are normally used to measure map distances in E.coli ? What is the basis for use of this particular type of unit?

5.What is a merozygote and what is its value in genetic research?

6.What type of bacterial mating system is used to generate stable partially diploid cells? 7.How does genetic transduction differ from transformation?

8.What was the nature of the first experimental evidence showing that DNA was capable of carrying genetic information?

9.What is an auxotrophic mutation? What term is used to describe the corresponding non-mutant state?

10.Explain how the inability to utilize a particular substrate can be used as a genetic marker in bacteria.11.The E.coli genome has been completely sequenced.a.How large is the genome of E.coli?

b.How many times as large is the human genome compared to that of E.coli.(The human haploid genome contains about 3.0 x 109 base pairs).c.How many potential protein-coding genes are contained in the E.coli genome(see table 7.3).d.If the human genome contained a comparable density of genes per amount of DNA, how many genes would be in the human genome?

e.A recent(1999)news report suggested that the number of human genes could be as large as 140,000(significantly higher than previous estimates of less than 100,000).What can you conclude about the density of genes in human DNA relative to that in E.coli DNA?

12.Describe a selective medium scheme for isolation of each of the following types of mutations.a.a leucine auxotroph

b.a strain unable to utilize lactose

c.a strain that is resistant to ampicillin(an antibiotic)

d.a strain that is resistant to infection by a specific type of bacteriophage.e.A cell from a strain auxotrophic for leucine that had been transformed to prototrophy with purified DNA from a proptotrophic strain.13.In many cases, Hfr conjugation can transfer several bacterial genes to a recipient cell without the recipient cell becoming an Hfr cell.Explain how this can happen.18 14.Explain how merozygotes can be used for complementation studies.Be sure that your answer makes it clear that you understand what complementation is.15.Distinguish between lytic and lysogenic bacteriophage infections in a manner that makes it clear that you understand what each is and how they differ.16.Distinguish between specialized transduction and generalized transduction in a manner that makes it clear you know what each is and how they differ.17.What is the smallest known genome size for a free-living organism? How many protien coding units does it contain?

18.Distinguish between virulent and temperate bacteriophages in a manner that makes it clear that you know what each is and how they differ.19.Explain how different genotypes can cause bacterial cells to exhibit similar phenotypes.20.You have a collection of mutant strains of E.coli that are auxotrophic for histidine.After you complete an experiment demonstrating the histidine requirements of these strains, you leave the petri dish cultures on the laboratory bench for a few days.When you return, you discover that there is now growth in the histidine-free control dish for one of the strains, but not for the others.How would you explain this observation?

Chapter 7 Gene expression and Control Genetic Fine Structure: Tetrad Analysis, Complementation, Cistrons

1.Briefly describe two experimental systems in which all of the products of a single meiosis can be recovered.How are such systems used in genetic analysis?

2.Explain how the centromere is used as a genetic marker when analyzing patterns of crossing over in Neurospora

3.What are the major differences in life cycles between the two types of yeast that are widely used in genetic research?

4.What is meant by the term “tetrad” and why is tetrad analysis of importance in genetic research? 5.Distinguish between ordered and unordered ascospores and explain how each can be used in genetic research.6.Explain how a single crossover can generate either a 2:2:2:2 pattern or a 2:4:2 pattern in the ascospores of Neurospora.7.Briefly describe the life cycle of Saccharomyces cerevisiae and explain how it can be used for tetrad analysis.8.Why is a tetratype with four different types of spores a more common occurence than a non-parental ditype, which has only two different types of spores?

9.What are the advantages of doing tetrad analysis with Neurospora ? What are the limitations of such studies?

10.What special values does tetrad analysis bring to genetics.What can be done with it that cannot readily be done with Drosophila or peas?

11.Describe the process of formation of a plaque by bacteriophage.12.How is genetic linkage studied in bacteriophage?

13.What properties make bacteriophage such a powerful tool for recombinational analysis? 14.Describe the phenomenon of complementation as it occurs among various rII mutations in bacteriophage T4.15.Explain why complementation studies cannot be done with dominant mutaitons.16.Bacteriophage mutations A and B do not complement each other when tested in a recombination-deficient strain of bacteria.However in strains that support recombination, there is occasional restoration of function.Explain how this can happen.(You will need to do some reasonable extrapolation beyond what has actually been presented to answer this.)

17.How can complementation studies be done in various types of organisms that normally have only a single haploid genome.(You should be able to come up with several examples from different organisms).18.What is meant by the term cistron? What is the origin of the term?

19.Does complementation between two mutant strains prove that both mutations have occurred within the same biochemical pathway? Explain your answer, including any restrictions you have placed on definitions of terms that you use.20.How can you distinguish whether restoration of function by coinfection with two mutant bacteriophage is due to complentation or recombination?

21.What would you do to analyze the frequency of recombination between two mutant strains of bacteriophage that complement each other?(This calls for some projection beyond what has been covered in class, but should be possible to answer based on what you have been told about complementation and about recombination).22.Cite an example of complementation in a diploid organism.What F2 phenotypic ratio is expected when mutant strains that exhibit complementation are crossed?

23.Can recombination occur within the coding unit for a single protein? Cite evidence to justify your answer.24.Can complementation occur within the coding unit for a single protein? Cite evidence to justify your answer.25.Explain how deletion mapping can be used for preliminary placement of previously unstudied mutations within a particular portion of a cistron.26.Briefly summarize the process of gene conversion, including how the Holliday model of genetic recombination explains its occurence.27.Briefly describe each of the following, including where it is likely to be observed: a.Sister chromatid exchange b.Mitotic crossover

c.Complementary gene action d.Complementation e.Non-parental ditype

Prokaryotic gene expression: lac operon

1.Draw a diagram showing the arrangement of the genetic sites that are involved in the lac operon and briefly summarize the role of each site.2.Starting with lactose in the extracellular environment, describe all of the steps that must occur to induce enhanced expression of the genes in the lac operon.3.What effect will each of the following have on induction of the lac operon by lactose in a medium that lacks glucose?

a.A mutation that inactivates beta-galactosidase.b.A mutation that inactivates galactoside permease.c.A mutation that makes the lac repressor protein incapable of binding to the lac operator site.d.A mutation that makes the lac operator site incapable of binding the lac repressor protein.e.A mutation that makes the lac repressor protein incapable of binding allolactose.4.What advantage is provided to E.coli by the presence of two separate regulatory mechanisms for the lac operon, with one responsive to glucose and the other responsive to lactose? 5.What is meant by a polycistronic transcript, and how is it related to the lac operon?

6.What is the normal function of the operator site and what is the effect of loss of that function?

7.What is the catabolite activator protein(CAP)and how does it affect gene expression at the lac operon?

8.What are the minimum set of components that must be present to have an operon? 9.What is a merozygote and how is it used to analyze the control mechanisms of an operon? 10.What is meant by cis and trans when these terms are used to describe regulatory mechanisms within an operon.Give an example of a mutation that is cis-dominant and one that has dominant effects both cis and trans.11.Describe two different roles of beta-galactosidase and explain the importance of each in the overall function of the lac operon.12.Explain how the presence of glucose in the external environment represses transcription of genes in the lac operon.13.What is the advantage of using an artificial inducer, such as IPTG, to study the regulation of the lac operon?

14.An engineered F' plasmid carrys a lac operon that is fully functional and intact except that each of its 3 enzymes have been mutated in ways that allow them to be distinguished from host enzymes, but do not affect their enzymatic activity.What will be the effect of adding that plasmid to each of the following mutant strains of E.coli ? Include in your answers a description of the properties of the mutant strain without the plasmid and a description of the ways in which those properties are changed by addition of the plasmid.a.An operator constituitive(Oc)strain whose operator is incapable of binding the repressor protein.b.A strain with a non-functional repressor protein(I-)that is incapable of binding the operator.c.A strain with a mutation that renders beta-galactosidease nonfunctional(lac Z-).d.A strain with a mutation that renders the lactose permease nonfunctional(lac Y-)

e.A strain with a mutation in the repressor protein that renders it incapable of binding allolactose or IPTG, without altering any of its other funcitons.15.Is the Lac I gene that codes for the lactose repressor protein considered to be part of the lactose operon? Explain your answer.Tryptophan operon, tryptophan attenuator，1.Distinguish between induction and repression in a manner that makes it clear that you know what each is and how they differ.(Be careful, this is a tricky question that needs to be approached at multiple levels).2.Describe two distinctly different ways in which the trp operon is controlled by the overall availability of tryptophan.22 3.How does the interaction between the repressor protein and the operator site differ between the lac operon and the trp operon? What role does the ligand that binds to the repressor protein play in each case?

4.Describe the mechanism responsible for shutdown of the trp operon when a plentiful supply of free tryptophan is available.5.Describe the mechanism by which the leader-attenuator region fine tunes the extent of transcription of the structural genes in the trp operon when the availability of tryptophan is marginal.6.The leader-attenuation system utilizes a conditional transcription termination signal.Explain how that signal is activated and deactivated.7.Leader-attenuator mechanisms have been found to control operons coding for enzymes involved in the synthesis of a number of different amino acids in various bacterial species, sometimes as the only regulatory mechanism.What do you consider to be the most likely reason for failure to find similar regulatory mechanisms controlling rates of synthesis of other types of biologically important molecules, such as vitamins and nucleic acid bases?(This requires analysis beyond the level of information that has been presented in class, but will be very obvious once you realize what the correct answer is.)

8.Would it be possible to reverse positions, placing the leader/attenuator sequence upstream from the promoter/operator sequence of the trp operon? Explain the reasoning behind your answer.9.Some operons are controlled only by a leader/attenuator mechanism.Does this indicate that the trp operon in E.coli could function normally with the promoter/operator sequence completely removed? Explain the reasoning behind your answer and think carefully about what you are saying..10.What effects on control of the trp operon would you expect from a frameshift mutation resulting from addition of one base in each of the following locations? In each case, would you expect the mutant strain to be able to multiply in a medium that did not contain tryptophan, and would you expect the operon to be turned off in the presence of an adequate amount of tryptophan? a.Near the 5'-end of the coding sequence for the trp repressor protein.b.Near the 5'-end of the coding sequence for the trp attenuator peptide.The codon for tryptophan is UGG, and the complete coding sequence for the attenuator peptide, including the UGA stop codon is 5'-AUGAAAGCAAUUUUCGUACUGAAAGGUUGGUGGCGCACUUCCUGA-3'(Consider this one carefully--it could get complicated!).c.Near the 3'-end of the coding sequence for the trp attenuator peptide(beyond the trp codons).(This one could also get complicated).d.Near the 5'-end of the trp E gene(the first structural gene in the operon).23 e.How would the answer to part b differ if the mutation were a missense mutation in the second codon of the attenuator peptide?

11.A strain of bacteria is auxotrophic because of a missence mutation in the trpE gene(the first one in the operon).Explain the reasoning behind your answers to each of the following questions.a.What effect would this have on the the ability of the strain to grow in a medium containing tryptophan?

b.What effect would this have on the the ability of the strain to grow in a medium lacking tryptophan?

c.Would you expect the trpA gene to be transcribed in this strain when tryptophan is absent from the culture medium?

d.Would you expect the trpA gene to be trainscribed in this strain when the culture medium contains tryptophan?

e.Would you expect the trpE gene product to be translated in a medium lacking tryptophan?(Be careful, this one is tricky).12.As illustrated in figure 8.14, The trpA and trpB gene products are needed only for the final step in tryptophan synthesis in E.coli, namely conversion of indole-3-glycerol phosphate(InGP)to tryptophan.The other three genes in the trp operon are involved in steps leading to the synthesis of InGP.Explain the reasoning behind your answers to each of the following quesitons.a.In a wild-type(non-mutant)strain, what effect would you expect the presence of InGP in a culture medium that contained no added tryptophan to have on transcription of the trp operon

b.Would you expect a strain with a loss-of-function mutation in trpE to be able to grow in a medium that contains InGP but no tryptophan?

c.What would be the transcriptional state of the trp operon in question b?

d.Would you expect a strain with a loss-of-function mutation in trpA to be able to grow in a medium that contains InGP but no tryptophan?

e.What would be the transcriptional state of the trp operon in question d?

13.The gene coding for the tryptophan repressor protein is at a remote location relative to the tryptophan operon.What effect would complete deletion of the repressor gene have on the response of the operon to varying levels of tryptophan in the environment?

14.What effect would an operator constituitive mutation(unable to bind the repressor protein)have on the response of the tryptophan operon to varying levels of tryptophan in the environment?

15.What effect would you expect complete deletion of the leader-attenuator sequence from the tryptophan operon to have on its response to varying levels of tryptophan? Eukaryotic transcriptional control

A few questions covering earlier lectures have been included here to review the background needed for this lecture.1.Dinstinguish among the three types of eukaryotic RNA polymerases in terms of the function of each.2.What are the major differences in organization between prokaryotic and eukaryotic genes.3.Summarize the modifications that must be made in a transcript produced by RNA polymerase II before it can be translated.4.Explain why more complex controls over gene expression are needed in multicellular eukaryotic organisms than in prokaryotic organisms.5.What are the features that distinguish enhancer sequences from functional parts of the basic promoter, such as the CAAT box and the TATA box?

6.How is a distant enhancer site believed to activate transcription?(What mechanism allows it to exert its effect over a considerable distance?)

7.Identify the three different domains that a protein must possess as a minimum to function as a ligand-responsive transcription factor(for example, a steroid hormone receptor).What role is played by each of these domains?

8.Describe the regulatory mechanisms that allow the budding yeast, Saccharomyces cerevisiae to turn on genes for galactose utilization when galactose is available.9.The GAL4 binding site in yeast is commonly referred to as an upstream activating sequence(UAS).Does it satisfy all of the criteria of an enhancer site? Explain your answer.10.Describe the sequence of events that results in expression of the genes that are needed for galactose utilization in yeast.Be sure to identify the regulatory protein that galactose interacts with and the way in which it triggers the gene expression process.11.What are three major types of transcription factors(classified in terms of their DNA-binding domains)?

12.What two types of domains must a protein possess to be a transcription factor? Discuss the relative specificity of each.25 13.What role does the GAL80 protein play in the control of galactose utilization genes in budding yeast?

14.What effect would you expect from a mutation in the GAL4 protein that rendered it incapable of binding to the GAL80 protein?

15.What effect would you expect from a mutation in the GAL80 protein that rendered it incapable of binding galactose?

16.Dnguish between each of the following pairs in a manner that makes it clear you know what each is and how they differ.a.Activator and coactivator

b.Enhancer and upstream activating sequence

c.Hormone response element and steroid hormone receptor d.General transcription factor and activator e.Cytosine and 5-methyl cytosine

17.The frequency of CG sequences in eukaryotic genomes is lower than expected based on the CG content of the DNA of each species and an assumption of random occurrence of all possible dinucleotide sequences.a.Describe a modification of CG base pairs that occurs more frequently in inactive parts of the genome than in actively transcribed genes.b.Describe a mutational process that could preferentially convert CG sequences to other sequences in the genetically inactive portion of the genome.(You may need to go back to lecture 6 for the answer).c.How would you explain the failure of DNA repair mechanisms to reverse the preferential loss of CG sequences?

d.How is the DNA modification from part a retained when DNA replicates?

e.What is the evidence that the modification in part a acts indirectly to inhibit transcription of inactive genes(see boxed example 8.4 if you are having trouble with this one).18.Activation factors and basal transcription factors such as the TATA binding protein are able to recognize specific nucleotide sequences within double stranded DNA.(You may want to look at figure 2.11 while answering this set of questions--note that the top of each base pair as drawn corresponds to the major groove).a.Explain how protein molecules, which tend to be bulky molecules, are able to detect differences in nucleotide sequence in various regions of a double-stranded DNA molecule.b.What features of an AT base pair are seen in the major groove? c.What features of a GC base pair are seen in the major groove?

d.An AA sequence or an AT sequence would result in the same two base pairs being next to each other in the double helical DNA.How do you think a DNA binding domain is able to distinguish between the two?(This will require a bit of speculation).e.What mechanism is commonly employed by transcription factors and activator proteins to read palindromic sequences, such as typical hormone response elements?

Chapter 8 Gene Engineering and Genomics and Proteomics Restriction endonucleases, vectors, Recombinant DNA

You will need to use the table of restriction endonuclease cut sites in the lecture 14 notes to answer some of these questions.You do not need to memorize the cut site sequences for the examination.1.Restriction endonucleases are widely used in recombinant DNA research.a.Distinguish between exonuclease and endonuclease in a manner that makes it clear you understand what each is and how they differ.b.What are the characteristic features of a target site for cutting by a restriction endonuclease? c.What range of frequencies of cutting is encountered with the various restriction nucleases that are currently in widespread use?

d.What is the size of the restriction endonuclease recognition site that is most useful for routine gene cloning operations? Explain the reasoning behind your answer.e.What is a sticky end and why is it considered useful in gene cloning?

2.The frequency with which a particular restriction endonuclease can be expected to cut a random DNA is influenced by the overall base composition of the DNA.a.What effect does the overall base composition of a DNA sample have on the average fragment length obtained with a restriction endonuclease?

b.Will the effect in part a be the same for every restriction endonuclease? Explain the reasoning behing your answer

c.The cut site for Eco RI is G|AATTC.What average fragment lengths do you expect to be produced from DNA with each of the following fractions of GC base pairs? 1/4, 1/3, 1/2, 2/3, 3/4 d.Describe a situation in which the shortest restriction fragments would be obtained with a DNA that was 50% A+T.e.Would you expect Sma I(CCC|GGG)to be able to cut DNA that is 50% AT? Explain your answer.f.Among the enzymes on the list in lecture 15 that have cut sites consisting of 6 nucleotide pairs, which would you expect to yield the largest DNA fragments from a GC-rich DNA and why? 3.Distinguish between 5'-overhangs and 3'-overhangs and describe a hypothetical(or real)example of each.4.What role do restriction endonucleases play in nature?(What were they good for before molecular biologists discovered how useful they can be in recombinant DNA studies?)

5.Do different restriction endonucleases ever generate sticky ends that are the same? Explain your answer.6.Eco RI cuts its GAATTC target site between G and A.A hypothetical enzyme Hyp I cuts the same sequence between T and C.Both enzymes yield sticky ends with the sequence 5'AATT3'.a.What problems would be encountered trying to rejoin the ends of DNA fragments cut with these two enzymes? Use a diagram to explain your answer.b.Can you think of any clever methods to overcome the problems described in your answer to part a? Using the same enzyme to cut both fragments is not an available option.c.Identify an actual pair of enzymes from the list in the lecture 14 notes that have a relationship to each other comparable to the relationship between Eco RI and Hyp I described in part a.7.What prevents restriction endonucleases from destroying the genomic DNA of the bacteria that produce them?

8.A DNA fragment prepared with Bgl II was successfully cloned into a vector that had been cut with Bam H1.a.What property of these two enzymes made it possible to perform this cloning without problems.b.It was subsequently discovered that neither of the original enzymes would release the cloned DNA from the vector.Explain why this occurred.c.Would it be possible to use Mbo I to release the DNA from the vector? Explain what problems might be encountered.d.If the Bam HI site were located in the middle of a multicloning site(polylinker), would you expect to be able to release the cloned insert with a different restriction endonuclease than those used in cloning? Explain your answer?

e.What procedure could you use to release the cloned insert in part d? What additional problem(s)would you then have to overcome?

9.What is a vector?(Be careful not to define vectors too narrowly).10.What is the value of using plasmids that carry antibiotic resistance genes as vectors?

11.What is the value of inserting a cloned DNA sequence into the middle of an antibiotic resistance gene?

12.Replica plating was an extremely valuable technique in early gene cloning studies, but is no longer as widely used.a.Describe the processes involved in replica plating.b.Explain the value of replica plating in the early studies.c.What has been done to eliminate the need for replica plating?

13.What is the rationale for the inclusion of multiple cloning sites in modern cloning vectors.Include in your answer a description of what multiple cloning sites are.14.Describe a cloning technique in which both the cloning vector and the bacterial strain that it is infected into have been engineered to work together to facilitate the process of screening.15.What is the rationale for using two different restriction endonucleases to prepare a DNA fragment for cloning.(You should be able to think of at least two different answers.)

16.You are trying to clone a gene by ligating Eco RI fragments into a plasmid vector.You get some successful clones, but sequencing studies reveal that you have only half of the coding sequence because there is an Eco RI restriction site in the middle of the gene.What would you do to obtain a full length clone of the gene?

17.You are trying to clone a gene, but have been unsuccessful in finding any restriction endonucleases that do not have cut sites within the gene.What alternatives are available to you? 18.Describe the selective steps that you would use to identify bacteria containing pBR322 plasmids carrying cloned DNA inserts that were originally ligated into plasmids that had been linearized with Bam HI

19.How would your answer to question 18 differ if the cloning had been done with Pst I? 20.Explain how it was possible to insert a polylinker into the 5'-end of the beta-galactosidase gene without losing biological function.Also explain why biological function is lost when a DNA fragment is ligated into a cut polylinker site.21.Why would you normally not use restriction endonucleases with four or eight nucleotide cut sites for cloning into plasmids?

22.Identify two different pairs of isoschizomers in the list of restriction endonucleases in the lecture 14 notes.In each case, how do the actual cuts differ from each other.23.Explain the value of having two different kinds of selection engineered into a plasmid for DNA cloning.What role is played by each?

24.You have a preparation containing DNA fragments prepared by digestion with Not I.Assuming the original DNA is 50% GT, how many pieces would you expect the average fragment in that preparation to be cut into by Eco RI? By Alu I?

Vectors for large inserts, cDNA, libraries, probes, expression vectors

1.What are the advantages of using each of the following vectors as alternatives to plasmids? a.Lambda-phage(Charon)vector.b.Cosmid

c.M13 viral vector

d.Yeast artificial chromosome.e.Bacterial artificial chromosome.2.How can site-directed mutagenesis be achieved in a cloned cDNA sequence? Include in your answer a description of the type of vector that you would have to use and the way in which you would transfer the cDNA clone from its original vector to the vector used for site-directed mutagenesis.3.Site-directed mutagenesis has become a valuable tool in molecular biology.a.Use the table of codons in figure 4.4 or inside the front cover of the textbook to generate a DNA code for a protein with the following partial sequence: Met-His-Leu-Val-Pro-Gly-Val-trp-Ile-.......b.Describe in detail how you would use site directed mutagenesis to change the proline to serine.4.Expression vectors are widely used in recombinant DNA technology.a.What is an expression vector? Include in your answer the special properties that a vector must have to function as an expression vector.b.Describe as many different reasons as you can why it may be useful to clone a gene or a cDNA into an expression vector.c.What are the potential advantages of using an expression vector with a strong constituitive promoter?

d.What are the potential disadvantages of using an expression vector with a strong constituitive promoter?

e.How can the disadvantages that you described in question 2 be avoided? 5.What is a genomic library and what is its value?

6.cDNA clones are widely used in recombinant DNA studies.a.What does the term “cDNA” stand for? b.How is cDNA prepared?

c.What features of cDNA make it a useful research tool?

d.What are the limitations that restrict the usefulness of cDNA clones?

e.Would you expect an eukaryotic cDNA to work well in a prokaryotic expression vector? Explain the reasoning behind your answer.7.You have a polyclonal antibody to a protein.You would like to clone the coding sequence for the protein.How would you go about it?

8.Explain the rationale for using IPTG rather than lactose or allo-lactose to induce expression of genes cloned downstream from the lac promoter/operator sequence.9.You have the cloned cDNA for a protein.Describe the procedures you would use to isolate a clone that contains the genomic sequence from a genomic library contained in lambda phage vectors.10.Do you expect cDNA preparations to contain cut sites for restiction endonucleases? Explain your answer.30 11.An unaltered vector and the same vector containing a cloned cDNA are denatured in the same solution, allowed to anneal slowly, and prepared for electron microscopy.What would you expect to see with the electron microscope?

12.What is a degenerate probe and what is it used for? In designing such a probe, what problems are likely to be encountered and how can they best be overcome.13.You know the amino acid sequence of a protein.Starting with a preparation of messenger RNA from a tissue that makes large amounts of the protein, how would you go about isolating a cloned cDNA that contains the nucleotide coding sequence for that protein? You should be able to think of two quite different approaches to this question.14.Why is it sometimes desirable to reduce the stringency of probe hybridization reactions? 15.What is meant by the term “restriction map”? What is the value of using partial digests in such mapping?(You may need to go back to lecture 14 for this and the next question)16.What is the advantage of preparing a restriction map with more than one restriction endonuclease?

17.You have used a CDNA to isolate a series of clones of various sizes from a genomic library that was prepared by incomplete digestion with Eco RI.Explain how you might use restriction mapping to determine patterns of overlapping among these clones and to assemble a set that collectively contain the complete genomic sequence including the introns that were spliced out of the mRNA used to prepare the cDNA.Also explain how you could identify presumptive promoter sequences located immediately upstream from the start of transcription.This question will require you to do some projection beyond specific details that we have covered in class, but should be fully answerable with the information that has been presented to you at various times during the semester.18.Using the table of codons in the textbook, identify all possible amino acid sequences whose genomic coding sequences could generate a cut site for EcoRI(G|AATTC).(Be sure to examine all possible reading frames and exclude all nucleotide sequences that could not be found in the coding sequences for proteins.)

19.In an organism whose DNA is 50% AT, how long would a protein have to be to have a 50% chance of containing a cut site for EcoRI within its coding sequence? 20.Vectors derived from bacteriophage lambda have become quite popular.a.Describe the modifications that are made in bacteriophage lambda to generate a typical vector(such as the Charon vectors)

b.Explain how blue-white selection is used to identify lambda vectors that contain cloned inserts.c.What determines the size range of inserts that can be cloned in a lambda phage vector?

d.What is done to prevent lambda phage vectors from entering into a lysogenic relationship with their host bacterial cells.e.What special modification is likely to be needed in order to clone a typical cDNA in a lambda

phage vector?(You have not been given an answer for this question, but you should be able to figure it out, based on what you are supposed to know about cDNAs and lambda phage vectors).PCR, Southern, Northern, Western blots

1.The polymerase chain reaction(PCR)is a widely used technique in molecular genetics.a.What special property must be possessed by the DNA polymerase used in PCR, and why is this so important for doing PCR?

b.Explain the use of primers in PCR, including why two different primers must be used.c.What relationship must exist between the two primers used in PCR?

d.Summarize all of the components that must be present in a PCR reaction mixture.e.Summarize the overall process that makes possible extensive amplification of specific DNA sequences with minimal effort through the use of PCR.2.One of the ways of determining whether a sequence has been successfully amplified by PCR is to do electrophoresis and look for a band of DNA of sharply defined size.Explain how such a band arises during PCR.3.Why is it not necessary to add new DNA polymerase and primers for each new cycle of PCR? 4.You have a cDNA of unknown sequence in a plasmid vector.How could you do a PCR amplification of the cDNA without first determining its end sequences?

5.What types of precautions must be taken when doing PCR to be certain that the desired results are obtained?

6.What aspects of PCR make it particularly useful in forensic investigations? How do the same properties make PCR particularly susceptible to challenge by defense lawyers?

7.Distinguish between Southern and Northern blots in a manner that makes it clear you know what each is and how they differ.8.How does a Western blot differ from both of the above? When is a Western blot used in perference to a Northern or Southern blot?

9.You have a cloned cDNA for a protein.You want to find a restriction endonuclease that can be used to isolate the genomic coding sequence in a single DNA fragment.Describe the procedures you would use to identify an appropriate restriction endonuclease.(Assume that you are dealing with an eukaryotic gene that contains introns of unknown sequence).10.You have a full length cDNA that codes for an eukaryotic protein.The cDNA was cloned using Pst I.When you do a genomic Southern blot with Eco RI, you detect three bands of distinctly different sizes that hybridize with the cDNA probe.32 a.What are two very different possible interpretations of the data?

b.Describe the additional experiments that would be needed to distinguish clearly between the two possibilities.(Be aware that there are multiple possible ways of approaching this problem, and list as many as you can).11.Why is it generally desirable to use a relatively small probe when doing a Southern blot.What situations may make the use of a larger probe desirable?

12.Summarize the major steps that are involved in Southern blotting.13.Describe a procedure that could be used to determine which tissues in a rat express the highest levels of a particular gene.What is the procedure called? What is the origin of the name? 14.Explain how it is possible to separate proteins by size alone, by isoelectric point alone, or by a combination of isoelectric point and size.15.What result would you expect to see if you probed a Southern blot of a PCR product derived from genomic DNA separately with each of its primers? How might the results differ if different restriction endonucleases were used on the PCR product prior to running the Southern blot(this calls for some speculation--explain any assumptions that you have made in arriving at your answer.16.What is a dot blot and when would you be most likely to use it?

17.You have a full-length genomic clone for an eukaryotic gene.You isolate and purify the cloned insert and use it as the starting point for a Southern blot of the clone.Using a cDNA for the gene as a probe, you detect five bands on the Southern blot.However, when you label the cloned genomic sequence and use it as a probe, you see two additional bands.a.Propose an explanation for the additional bands.b.You isolate the restriction fragment that is responsible for one of the additional bands and use it as a probe for a Southern blot prepared the same way as the first one.How many bands do you expect to see? Explain the reasoning behind your answer.c.You purify the cDNA for the gene and do a Southern blot of it using the same restriction endonuclease that was used for the genomic Southern blot.When you probe that Southern blot with the full length cDNA, you only find three bands.Propose an explanation for the reduced number of bands.d.You purify one of the bands from part c and use it as a probe on the genomic Southern blot.How many bands do you expect to detect? Explain the reasoning behind your answer.e.You use the probe from part d on a Southern blot of the cDNA prepared with a different restriction endonuclease.What possible range of results might you see? DNA sequencing

1.Explain the role played by electrophoresis in determining DNA sequences.2.What type of reagent is used to achieve selective chain termination in DNA sequencing studies?

3.DNA sequencing is frequently done with single-stranded DNA as the starting material.a.What are the potential advantages of using single-stranded DNA?

b.Is the use of single-stranded DNA strictly necessary? Explain the reasoning behind your answer.c.What additional step would be needed to start with double-stranded DNA?(You have not been given an exact answer, but you should be able to figure out what must be done.)

d.Would it be possible to do sequencing by adding dideoxyribonucleotide triphosphate chain terminators to a PCR reaction? Explain your answer.e.Would it be possible to use a single PCR primer as a sequencing primer? Explain your answer and discuss any special problems that might be encountered.4.Why is it important to use a polymerase that lacks 5' to 3' exonuclease activity(such as the Klenow fragment of DNA polymerase I)when doing DNA sequencing?

5.You have a series of partial and full length cDNA and genomic clones in vectors that contain polylinker sites.Describe the primers that you would need to determine the entire sequence of the cloned insert and possible alternative strategies that you might use to obtain the complete sequence in each of the following cases.a.The total length of the insert is 350 base pairs.b.600 base pairs.c.1000 base pairs.d.10,000 base pairs.6.Why is it necessary to use four parallel electrophoretic lanes when determining DNA sequence by “standard” methods? How have newer methods eliminated this requirement? 7.Explain how dideoxyribonucleotide triphosphates terminate chain growth.8.What prevents all growing chains from being terminated at the same length?

9.What is an open reading frame and why is its identification important during DNA sequencing? 10.Sanger's early analysis of DNA sequence in the single stranded DNA bacteriophage phi-X174 revealed overlapping open reading frames.What is the significance of this discovery?

11.You are sequencing the cDNA that codes for a particular enzyme in mice.As a check on the accuracy of your procedures, you do sequence analysis on two separate clones both prepared from the mRNA of the same mouse.The two sequences correspond exactly, except at one nucleotide about halfway through the coding sequence, where you obtain a C in one of the samples and a T in the other.a.How would you interpret the data?

b.You transfer both clones to an expression vector, and they both produce equally functional enzyme.What is the most likely explanation for how this can happen?

c.Would you expect to see any differences in the amino acid sequences of the two enzymes? Explain your answer.d.In part b, one of the expression vectors fails to produce a functional enzyme.How would this affect your answers to parts b and c?

e.You have a pair of unique sequence oligonucleotide primers that allow you to use PCR to amplify a sequence 150 nucleotides long that contains the C versus T site, using genomic DNA from the same mouse as your starting material.You then do sequencing on the PCR product, using the primer that hybridizes to the antisense strand as your sequencing primer.What do you expect to see on your sequencing gel at the C versus T site?(Note that this question requires a knowledge of PCR from Lecture 17.It also requires you to extrapolate beyone what you have been told).12.You are sequencing using the sense strand of a cDNA that has been cloned into an M13 viral vector as the template.How does the data that you read from your sequencing gel need to be modified to obtain the correct sequence for the sense strand of the cDNA? What term is used to describe the sequence that you have read from your gel?

13.Why does the sequence you read from the gel in Sanger dideoxy sequencing not begin with the sequence of the primer that you used?

14.What are the advantages of using fluorescent labels rather than radioactive labels for sequencing?

15.When sequencing with a primer for a vector with a multi-cloning site, you encounter the sequence GAATTC at the start of the cloned sequence that you are expecting.Explain how this might happen.16.The RNA coding sequence for the tryptophan operon attenuator peptide(lecture 12)is 5'-AUGAAAGCAAUUUUCGUACUGAAAGGUUGGUGGCGCACUUCCUGA-3'.a.Sketch a sequencing gel showing the sequence that would be obtained if you used the antisense strand of the DNA as the template and a primer that hybridized to the DNA just beyond the end of the coding sequence.b.Same as a, except using the sense strand of the DNA as the template.c.Same as a, except containing a frameshift mutation that causes the formation of a stop codon(UGA)near the middle of the sequence.The stop codon is to be formed by frame-shifting, and not by the direct insertion or deletion of a base at the site of the stop codon.Chapter 9 Gene Mutation DNA repair

1.Thymine dimers are one of the frequent targets of DNA repair systems.a.What is a thymine dimer.b.How are thymine dimers formed?

c.Why is it important to remove thymine dimers from DNA

d.Describe a method that eliminates thymine dimers without removing and replacing DNA sequences.e.Describe as many different mechanisms as you can for removal of thymine dimers from DNA.2.What is excision repair and how does it work? 3.What is mismatch repair and how does it work?

4.What mechanisms are used to distinguish newly made DNA strands from their template strands to be certain that error correction is done on the new strand and not on the template strand when a mismatch is detected?

5.What is the genetic defect involved in the human genetic disease Xeroderma pigmentosum? What limitations does it place on the lives of individuals who have it?

6.How do mutations induced by X rays and ultraviolet radiation tend to differ from each other? 7.Compare the mechanisms used to overcome ultraviolet light-induced damage to DNA in photoreactivation, as opposed to excision repair.8.How is damage to DNA that has been caused by alkylating agents repaired? What is the repair process called? What is the first intermediate step in the repair process?(Hint: you may need to go back to the previous lecture to find the nature of the damage done by alkylating agents)9.Describe the mechanisms that are involved in postreplicative(recombinational)repair.10.What is error-prone repair and under what conditions is it invoked? How can the existence of an error-prone repair system be justified(beyond the fact that it has been observed to occur)? 11.Describe the roles played by the RecA protein in various cellular responses to DNA damage.12.What special mechanisms exist for selective repair of the antisense strands of actively transcribed genes.Why is a comparable level of repair not expected for the sense strands? 13.Describe the last line of defense that a bacterial cell has against ultraviolet damage that is not detected and repaired as soon as it occurs.14.What genetic defect has been associated with Cockayne syndrome in humans.15.Starting with a wild type bacterial cell, what mutations would you select for in order to obtain a 36 strain that could be used to test for mutagens with maximum sensitivity.Chapter 10 Extranuclear Inheritance and Maternal Effect

Extranuclear Inheritance, Maternal Effect

1.What is the effect of a mutation in the bicoid gene in Drosophila?

2)Describe the pattern of inheritance of direction of coiling of the shell of the pond snail Limnea peregra.3.Briefly describe two distinctly different examples of maternal inheritance.4.What is a petite mutation in yeast? What metabolic defect is responsible for the peitite phenotype? 5.Describe three different inheritance patterns of petite mutations in yeast, and explain how each is achieved.6.Distinguish between a neutral petite(rho0)and a suppressive petitite(rho-)in a manner that makes it clear that you know what each is and how they differ.7.How does the pattern of inheritance of genes on the mitochondrial genome differ from that of dominant sex linked genes? Identify a specific pattern that would distinguish between the two.8.What properties make mitochondrial genes particularly useful in the study of short-term evolutionary changes in populations?

9.What conclusions have been drawn from studies on human mitochondrial gene sequences? What problems have caused these conclusions to be viewed somewhat cautiously?

10.What is meant by the term “bottleneck” as it is used in genetics? What are some of the likely causes of bottlenecks? What evidence suggests that a bottleneck may have occurred in human evolution?

11.What properties of modern mitochondria suggest that they may have originated as prokaryotic endosymbionts?

12.Explain the dependence of modern aerobic life forms on mitochondria.13.Describe three distinctly different ways in which uniparental mitochondrial inheritance can be achieved.Based on lectures from earlier in the semester, describe two other ways in which some of the inheritance received by specific individuals can be uniparental.37 14.Paternal imprinting and mitochondrial inheritance will both cause maternally-derived genes to be expressed exclusively in the immediate progeny of a mating.How would you distinguish between the two types of inheritance?

15.What is the presumed evolutionary origin of the genome found in chloroplasts.16.How is a defective chloroplast genome likely to be manifested phenotypically in a higher plant? 17.What is the basis for claiming that cells in higher plants have three separate but interacting genomes?

18.Describe the role played by kappa particles in Paramecium.19.Explain why most cells in budding yeast are homoplasmic even when originally derived from a heteroplasmic cross.20.What reasons may be responsible for the fact that such a high percentage of the genes in a typical mitochondrion code for RNA sequences that are not translated?

Chapter 11 Genetics and Development 1.What characteristics of homeotic gene?

2.Distinguish the role of nuclei cytoplasm in organism development? 3.Explain ABC model in flower development? 4.What is totipotency.Chapter 12 Quantities Genetics Because of time limitations, only questions 1 through 7 were covered in enough detail to be included in the final examination.1.What characteristics of wheat make it particularly useful in studies on quantitative genetics? 2.Distinguish between additive alleles and those that exhibit dominance, and explain how allelic interaction determines phenotype in each case.3.Explain how five different shades of color can be achieved with just two alleles each at two loci.38 4.What characteristics must be possessed by a set of genetic loci in order for the principles of quantitative genetics to be applied to them?

5.How would you determine the theoretical number of different phenotypes and their phenotypic ratios for n different additive genetic loci?

6.What factors usually limit the number of different phenotypes that can be distinguished in polygenic inheritance?

7.What prevents application of the concepts of quantitative genetics to the study of traits that are controlled by dominant and recessive alleles?

Items below this line will not be included on the final examination.8.Describe the difference between discontinuous and continuous variation.9.Distinguish among mean, median, and mode in a manner that makes it clear you know what each is and how they differ.10.How does a distribution with low variance differ from one with high variance? 11.What is the difference between a skewed distribution and a normal distribution? 12.What is meant by the concept of heritability when it is applied to a phenotypic trait that is influenced by polygenic inheritance?

13.Briefly define each of the following and explain its significance.a.Transgressive segregant b.Bimodal distribution c.Hybrid vigor d.Inbreeding depression e.Quantitative trait locus

14.Describe possible patterns of interaction between genotype and environment.15.What factors tend to limit the amount of phenotypic change that can be achieved by selection? 16.What factors do you think are causing average human height to be taller now than a few hundred years ago?(This calls for speculation on your part based on what you should have learned about continuous variation.Also, several different factors may be implicated.)

Chapter 13 Population genetics and Evolution

Population Genetics I

1.What is the basic difference in approach between the Mendelian genetic studies discussed earlier in the semester and the population genetic studies discussed in the current lecture? 2.Write the basic Hardy-Weinberg equations for distribution of alleles in a population and distribution of genotypes in a population, and show how the two are related.3.How can the relationship between allelic frequency and genotypic frequency be depicted visually? Draw an appropriate figure.4.What conditions must be met in order for the Hardy Weinberg relationship to be applicable.5.A rare recessive disease has a frequency of occurrence of X among the children of unrelated parents.a.What is the allelic frequency of the allele that is homozygous in diseased individuals? b.What is the frequency of heterozygous carriers of the disease in the general population? c.What is the frequency of individuals who are neither afflicted nor carriers?

6.What pattern of change of allelic frequencies over time is expected in a large population with random mating and no selective advantage of any of the genotypes?

7.Explain the meaning of the symbols H, P, and Q, and relate each to allelic frequencies p and q.8.Use a diagram to demonstrate how inbreeding leads to loss of heterozygosity.9.What is meant by the term homozygosity by descent?

10.Define the inbreeding coefficient(F)in terms of loss of heterozygosity.11.Use specific equations to show how the frequencies of homozygous genotypes(P and Q)are affected by the inbreeding coefficient.12.What would the inbreeding coefficient be in each of the following cases? a.For the children of a first cousin marriage(parents have the same grandparents).b.For the children of a second cousin marriage(parents have the same great-grandparents)c.For childdren of a marriage in which a grandson of a couple married a great-granddaughter.Assume that the grandson and great-granddaughter were descended from different children of the original couple.(Hint: construct the entire pedigree and determine the dilution of original parental alleles at each reproductive step, taking into account that there is one more generation on one side

than on the other.Don't forget that there are four parental alleles.)(Alternatively, this is a good place to use path distances.)

d.Brother-sister matings of laboratory mice.e.The offspring of the mating of a male laboratory rat with his female progeny(construct a pedigree and determine the dilution of alleles as in question c).13.Alleles A and B are codominant.Calculate the relative frequencies of the three possible phenotypes for each of the following frequencies of A.(Assume that A and B are the only alternatives).a.A = 0.5 b.A = 0.2 c.A = 0.1 d.A = 0.01 e.A = 0.001

14.Allele a is recessive to allele A.Calculate the relative phenotypic frequencies in each of the following situations.(Assume that A and a are the only alternatives).a.a = 0.5 b.a = 0.2 c.a = 0.1 d.a = 0.01 e.a = 0.001

15.What is the highest frequency of heterozygosity that can exist is a population that is in Hardy-Weinberg equilibrium.What are the allelic frequencies that yield the highest fraction of heterozygosity.Hint: If you are not particularly skilled in mathematics, the best approach to this one is trial and error, coupled with a little bit of intuition.(Alternatively, see figure 24.5 in Klug and Cummings, Concepts of Genetics, 5th Edition, Norlin reserve)

16.What changes occur in the Hardy-Weinberg equilibrium when the alleles that are being examined are carried on the X-chromosome?

17.Describe as many different ways as you can in which typical human mating patterns are likely to cause deviations from an idealized Hardy-Weinberg equilibrium.In each case, describe the type of deviation that is expected.18.What aspects of the life cycle of garden peas made it particularly easy for Mendel to obtain true-breeding strains with which to do his experiments?

19.You are working with two independently assorting loci A/a and B/b in garden peas.You deliberately cross true breeding AB peas with true-breeding ab peas.You then grow several generations allowing only self-fertilization, with sufficiently large samples so there is no selection

against rare genotypes.What distribution of genotypes and phenotypes do you expect to emerge? Exact calculations may get too complicated, but you should be able tocome up with some good generalizations.20.You are working with two genetic loci A/a and B/b that are about 10 map units apart on the same chromosome in garden peas.You deliberately do a dihybrid cross of two pure-breeding strains with the recessive alleles in coupling.You then grow several generations allowing only self-fertilization, always working with sufficiently large samples so there is no selection agains rare genotypes.What general patterns of genotypes and phenotypes would you expect to emerge?(You may find it helpful to consult table 15.1b).This is too complex for exact calculations, but you should be able to come up with some reasonable approximations.Also, be sure to take into account the cumulative effects of continued crossing over in successive generations.(Yes, this does call for a lot of speculation!)21.What tentative conclusion would you reach about a population that exhibited a high degree of polymorphism(the presence of alternative alleles at a high percentage of its genetic loci), but a very low level of heterozygosity in its

Population Genetics II

1.What possible explanations can be offered for loss of heterozygosity in certain populations found in the wild?

2.What criteria must be met for a genetic locus to be considered monomorphic? Polymorphic? 3.What is meant by the term “bottleneck” as it is used in genetics?

4.The Northern elephant seal has made a substantial recovery from near extinction.Why are geneticists still worried about its future?

5.Why is a high level of polymorphism in a population considered desirable?

6.What driving forces have caused the allelic frequency of HbS, which causes sickle cell anemia when it is homozygous, to become elevated in Central African populations? 7.What is the relationship between relative fitness and selection coefficient?

8.What is heterozygous advantage and what impact does it have on the population that emerges from an extended selective process?

9.In a population in which there is heterozygous advantage, what determines which of the two alleles that are involved reaches the highest equilibrium frequency?(You may have to make a 42 common-sense extension from what has been presented to answer this one.Think in terms of the relative s values for the two homozygotes.).10.Why does an allele that provides resistance to an adverse environmental condition not always become fully established and essentially monomorphic in a population?

11.Explain how a balance between selection and mutation can establish a constant allelic frequency for a recessive lethal trait.12.Describe two different ways in which reduction of a population to a small size can permanently alter the genetic composition of the progeny of that population, even if their number later increases.13.What are the mechanisms responsible for genetic drift, and how do they differ from founder effects?

14.Explain how an environmental change can alter selection.Illustrate with a real-life example.15.Why is it valuable to have a high degree of heterozygosity in a population?

16.Explain why selection is not very effective in the complete removal from a population of an allele that is deleterious only when in the homozygous recessive state.17.Explain how a disease epidemic can alter the balance of alleles that have nothing to do with resistance to that disease.18.Explain how a pericentric inversion might give rise to disruptive selection, and how such selection might be the first step toward formation of separate species.19.Describe a situation in which selection may not efficiently remove a dominant lethal allele from a population(hint: remember to use the normal definition of a “dominant lethal” allele--it does not mean dominant lethality or it would not exist in the population to start with).population? necessary?

18.What is an embryonal stem cell(ES cell)and what is its special value in genetic research? 19.Describe two different approaches that are being taking toward the use of biotechnology in vaccine production.20.Distinguish between transfection and transformation in a manner that makes it clear you know what each is and how they differ.參考書目：

[1] 《遺傳學(xué)》第三版 朱軍 中國農(nóng)業(yè)出版

[2] 《遺傳學(xué)》第二版 劉祖洞

上海復(fù)旦大學(xué) 高等教育出版社 [3] 《遺傳學(xué)》第一版 劉慶昌 科學(xué)出版社

[4] 《Principles of Genetics》Second Edition D.Peter Snustad

University of Minnesota, Michael J.Simmons, University of Minnesota,John Wiley & Sons, Inc.[5]《Essentials of Genetics》Fourth Edition,William S.Klug

The College of New Jersey, Michael R.Cummings

University of lllinois at Chicago高等教育出版社