《遺傳學(xué)》課件 第一章緒論

1、Genetics 遺傳學(xué)About the courseObligatory course of biology studentsCourse credit: 2 or 3Objectives: 1）be familiar with the terms of Genetics; 2） to learn the basic ways and the principles of Genetics so as to analyze and explain phenomena of heredity and variation Textbooks Required:普通遺傳學(xué) 楊業(yè)華 主編 高等教育出

2、版社 第2版 北京 Recommended:1.Principles of genetics, (eighth edition) Eldon John Gardner et al., 19912.遺傳學(xué) 朱軍 主編 中國(guó)農(nóng)業(yè)出版社 第3版3.遺傳學(xué) 劉祖洞 高等教育出版社 1999.6 第1版（2001年重?。┍本?4. 現(xiàn)代遺傳學(xué) 趙壽元 喬守怡高等教育出版社 2001.8 第1版 北京 5. Essentials of Genetics, (fourth edition) Klug W and Cummings MR ,2002本課程的特點(diǎn)綜合性強(qiáng)：涉及到動(dòng)物、植物、微生物、生物化學(xué)、物理

3、學(xué)、數(shù)學(xué)、生物統(tǒng)計(jì)學(xué)等 理論性強(qiáng)：細(xì)胞遺傳學(xué)、數(shù)量性狀、群體遺傳、生化遺傳、分子遺傳等學(xué)習(xí)方法認(rèn)真聽(tīng)講 善于聯(lián)系相關(guān)學(xué)科與實(shí)踐 勤于思考，多動(dòng)腦筋，切忌死記硬背 注重相交流、討論 Genenics is like riding a bike ,easy when you know how ,but impossible until you try it . Genenics is considered by some students to be the most difficult aspect of biology ,this is often because you have to th

4、ink it . Course Evaluation:平時(shí)成績(jī)：作業(yè)及考勤 10%，小組討論20%，期末綜述 10%試卷成績(jī)：期終考試(final exam) 60%。綜合考核成績(jī)：將以上成績(jī)綜合起來(lái)即可。 第一章 緒 言1 遺傳學(xué)研究的對(duì)象和任務(wù) 2 遺傳學(xué)發(fā)展簡(jiǎn)史3 遺傳學(xué)在科學(xué)和生產(chǎn)發(fā)展 中的作用 1.遺傳學(xué)研究的任務(wù) 遺傳 現(xiàn)象、規(guī)律遺傳學(xué) 原因、物質(zhì)基礎(chǔ) 變異 指導(dǎo)實(shí)踐由遺傳因素直接導(dǎo)致的疾病遺傳學(xué)是研究遺傳與變異的科學(xué)Heredity(遺傳): resemblance among individuals related by descent; transmission of tra

5、its from parents to offspring. 親子間的相似現(xiàn)象。“種瓜得瓜、種豆得豆”Variation(變異): in biology, the occurrence of differences among individuals.個(gè)體之間的差異?！澳干抛?，九子各別”遺傳和變異是一對(duì)矛盾遺傳、變異和選擇是生物進(jìn)化和新品種選育的三大因素：* 遺傳+ 變異+ 自然選擇 形成物種* 遺傳+ 變異+ 人工選擇 動(dòng)、植物品種遺傳和變異的表現(xiàn)與環(huán)境不可分割遺傳學(xué)研究的內(nèi)容 1、遺傳物質(zhì)的結(jié)構(gòu)2、遺傳物質(zhì)的傳遞 3、遺傳物質(zhì)的表達(dá)基因GENE遺傳學(xué)GENETICS圖1-1 遺傳學(xué)是以基

6、因?yàn)橹行模?研究生物遺傳與變異的科學(xué)表 一些常染色體顯性遺傳病舉例疾病中文名稱疾病英文名稱 OMIM染色體定位家族性高膽固醇血癥familial hypercholesterolemia14389019p13.2遺傳性出血性毛細(xì)血管擴(kuò)張hemorrhagic telangiectasia1873009q34.1遺傳性球形紅細(xì)胞癥elliptocytosis1305001p36.2-p34急性間歇性卟淋癥porphyria, acute intermittent17600011q23.3遲發(fā)性成骨發(fā)育不全癥osteogenesis imperfecta, type I16620017q21.31

7、-q22成年多囊腎病polycystic kidney disease, adult17390016p13.3-p13.12-珠蛋白生成障礙性貧血alpha-thalassemias14180016pter-p13.3短指（趾）癥A1型brachydactyly, type A11125002q35-q36特發(fā)性肥大性主動(dòng)脈瓣下狹窄supravalvular aortic stenosis1855007q11.2遺傳性巨血小板病，腎炎和耳聾Fechtner syndrome15364022q11.2Noonan綜合征Noonan syndrome 116395012q24.1神經(jīng)纖維瘤neur

8、ofibromatosis, type I16220017q11.2結(jié)節(jié)性腦硬化tuberous sclerosis19110016p13.3，9q34多發(fā)性家族性結(jié)腸息肉癥adenomatous polyposis of the colon1751005q21-q22Peutz-Jeghers綜合征Peutz-Jeghers syndrome17520019p13.3Von Willebrand病Von Willebrand disease19340012p13.3肌強(qiáng)直性營(yíng)養(yǎng)不良dystrophia myotonica 116090019q13.2-q13.3研究生物體遺傳信息的組成、傳遞

9、和表達(dá)規(guī)律的一門科學(xué)，其主題是研究基因的結(jié)構(gòu)和功能以及兩者之間的關(guān)系，所以遺傳學(xué)可稱為基因?qū)W遺傳學(xué)實(shí)質(zhì)1. DNA2. Gene4. Genome5. Individual3. Chromosome7. Population6. Family (pedigree)Cell2 遺傳學(xué)發(fā)展簡(jiǎn)史十八世紀(jì)下半葉和十九世紀(jì)上半葉拉馬克認(rèn)為環(huán)境條件的改變是生物變異的根本原因提出器官的用進(jìn)廢退和獲得性狀遺傳等學(xué)說(shuō)達(dá)爾文發(fā)表了物種起源提出自然選擇和人工選擇的進(jìn)化學(xué)說(shuō) 孟德?tīng)?Mende1，G. J.，1822 1884)18561864年從事豌豆雜交試驗(yàn)1866年發(fā)表“植物雜交試驗(yàn)”論文提出分離和獨(dú)立分配兩個(gè)

10、遺傳基本規(guī)律 1900年，弗里斯、柴馬克和柯倫斯同時(shí)重新發(fā)現(xiàn)1900年被公認(rèn)為是遺傳學(xué)建立和開(kāi)始發(fā)展的一年 貝特生（1906）首先提出“遺傳學(xué)”弗里斯（19011903）發(fā)表“突變學(xué)說(shuō)”貝特生等（1906）在香豌豆雜交試驗(yàn)中發(fā)現(xiàn)性狀連鎖約翰生（1909）發(fā)表了“純系學(xué)說(shuō)”，提出“基因”一詞摩爾根（1910）等用果蠅為材料發(fā)現(xiàn)性狀連鎖現(xiàn)象創(chuàng)立了基因理論，連鎖遺傳規(guī)律，細(xì)胞遺傳學(xué)1933N1927年穆勒和斯特德勒采用X-射線，分別誘發(fā)果蠅和玉米突變成功1946N1937年布萊克斯里等用秋水仙素誘導(dǎo)植物多倍體成功1941年比德?tīng)柕扔眉t色面包霉為材料提出“一個(gè)基因一個(gè)酶”的假說(shuō)發(fā)展了微生物遺傳學(xué)和生化

11、遺傳學(xué) 1958N1953年瓦特森和克里克提出DNA分子結(jié)構(gòu)模式理論 1962N 七十年代初，人工分離基因和人工合成基因建立了遺傳工程這一個(gè)新的研究領(lǐng)域 九十年代初實(shí)施“人類基因組計(jì)劃”，全部約32億個(gè)核苷酸對(duì)的排列次序，約3.5萬(wàn)個(gè)基因的遺傳和物理圖譜確定人類基因組DNA編碼的遺傳信息 21世紀(jì)，將進(jìn)入“后基因組時(shí)代”，將闡明蛋白質(zhì)的功能弄清DNA序列所包含遺傳信息的生物學(xué)功能3 遺傳學(xué)在科學(xué)和生產(chǎn)發(fā)展 中的作用(1) 研究生命的本質(zhì)等(2) 指導(dǎo)新品種選育(3) 治療遺傳疾病 4. The Scientific Method Graphically, the SCIENTIFIC METH

12、OD can be presented as a flow chart:The most important part of the scientific method is TESTING hypotheses. Genetics Model Organisms Experimental genetics often employs “model organisms” that are amenable to manipulation. Chosen for specific reasons: Small size, large number of progeny, and short li

13、fe cycle. These factors are necessary to perform a large number of genetic crosses in reasonable periods of time for reasonable amounts of money.Small genome and/or large chromosomes. Experimentation on organisms with small genomes is very important now, since it is expensive to sequence large amoun

14、ts of DNA. However, large chromosomes can be seen more easily using microscopes.Appropriate levels of developmental complexity. Models systems are chosen based on the question - if one wants to look at universal processes like translation a developmentally simple organism would be appropriate but lo

15、oking at floral development requires looking at a flowering plant.Examples of Model Organisms One of the first model organisms in genetics was the fruit fly Drosophila:Examples of Model Organisms Drosophila is relatively easy to grow in the lab, but it can be used to examine development:The mutation

16、 produces these mutant flies. Examples of Model Organisms Although Drosophila has a very small genome (for an animal) it actually has large chromosomes in specific cells:Examples of Model Organisms One of the most important model plants is Arabidopsis thaliana.A small, rapidly-growing mustard plantE

17、xamples of Model Organisms Arabidopsis is a flowering plant and has provided substantial information about flowers.Examples of Model Organisms Arabidopsis can be grown in limited space - even on plates.The family of duckweeds (botanically, the Lemnaceae) are the smallest flowering plants Left: Duckweeds do not normally grow