遺傳分析課件

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析發(fā)育生物學(xué)研究所吳曉暉

xiaohui_wu@.cn遺

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析什么是遺傳學(xué)？遺傳分析有什么用？教學(xué)安排遺

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析什么是遺傳學(xué)？遺傳分析有什么用？教學(xué)安排遺傳與變異遺傳：世代間相似的現(xiàn)象變異：個體間的差異什么是遺傳學(xué)？“Theobjectoftheendowmentwasthepromotionofinquiriesintothephysiologyofheredity

andvariation,astudynowspokenofasGenetics.”

-WilliamBateson,1908

“Fromancienttimesheredityhasbeenlookeduponasoneofthecentralproblemsofbiologicalphilosophy.”

-ThomasHunterMorgan孟德爾之前泛生論：獲得性、混合式希波克拉底

(HippokratesofKos,460-370B.C.)達(dá)爾文

(CharlesRobertDarwin,1809-1882)亞里斯多德

(Aristotle,384-322B.C.)父精為形，母血為質(zhì)“Libyaalwaysbearssomethingnew”莫佩爾蒂

(Pierre-LouisMoreaudeMaupertuis,1698-1759)白化病、多趾癥克爾路德(JosephGottliebKolreuter,

1733-1806)植物(煙草)育種化學(xué)模式孟德爾

(1822-1884)植物雜交實驗“Experienceofartificialfertilization,suchasiseffectedwithornamentalplantsinordertoobtainnewvariationsincolor,hasledtotheexperimentswhichwillherebediscussed.Thestrikingregularitywithwhichthesamehybridformsalwaysreappearedwheneverfertilizationtookplacebetweenthesamespeciesinducedfurtherexperimentstobeundertaken,theobjectofwhichwastofollowupthedevelopmentsofthehybridsintheirprogeny.”

-GregorJohanMendel,1865“...now,aftereightyears'pursuit,concludedinallessentials.”/分離定律性狀

(character)

紫紅花:顯性

(dominant)

白花:隱性

(recessive)顆粒式遺傳自由分離AAaaAaAaAa,AAaaP0xF1705224xF2雜交單元

(hybridunion)

A a A AA Aa a Aa aaAB,母本

ab,父本A,圓籽粒 a,皺籽粒B,黃色胚乳

b,綠色胚乳ABxabABABAbaBab31510810132ABABbAaBAaBb自由組合定律“在最初兩種親本中，決定每種性狀差異的雜交單元是相互獨(dú)立的。”38 plantswiththesign AB35 ” ” “ Ab28 ” ” " aB30 ” ” " ab65 ” ” ” ABb68 ” ” ” aBb60 ” ” " AaB67 " ” ” Aab138 ” ” ” AaBbaBaBbAbAabab孟德爾定律的重新發(fā)現(xiàn)

“IthoughtthatIhadfoundsomethingnew.ButthenIconvincedmyselfthattheAbbotGregorMendelinBrünn,had,duringthesixties,notonlyobtainedthesameresultthroughextensiveexperimentswithpeas,whichlastedformanyyears,asdiddeVriesandI,buthadalsogivenexactlythesameexplanation,asfarasthatwaspossiblein1866.” -CarlErichCorrens,1900

“FromtheseandothernumerousexperimentsIconcludethatthelawofsegregationofhybridsasdiscoveredbyMendelforpeashasaverygeneralapplicationintheplantkingdom,andhasabasicsignificanceforthestudyoftheunitsofwhichthespecificcharactersarecomposed.”-HugoMariedeVries,1900“CorrenshasjustpublishedexperimentswhichalsodealwithartificialhybridizationofdifferentvarietiesofPisumsativumandobservationsofthehybridslefttoself-fertilizationthroughseveralgenerations.Theyconfirm,justasmyown,Mendel’steachings.Thesimultaneous“discovery”ofMendelbyCorrens,deVries,andmyselfappearstomeespeciallygratifying.Eveninthesecondyearofexperimentation,ItoostillbelievedthatIhadfoundsomethingnew.” -EricvonTschermak-Seysenegg,1900摩爾根

(1866-1945)植物雜交實驗

“Whythen,weareoftenasked,doyoudraginthechromosomes?OuransweristhatsincethechromosomesfurnishexactlythekindofmechanismthattheMendelianlawscallfor;andsincethereisanever-increasingbodyofinformationthatpointsclearlytothechromosomesasthebearersoftheMendelianfactors,itwouldbefollytocloseone’seyestosopatentarelation.Moreover,asbiologists,weareinterestedinhereditynotprimarilyasmathematicalformulationbutratherasaproblemconcerningthecell,theegg,andthesperm.”-T.H.Morgan,1915細(xì)胞分裂與染色體1882年，WaltherFlemming發(fā)現(xiàn)染色體和有絲分裂1887年，Edouard-Joseph-Louis-MarievanBeneden發(fā)現(xiàn)各物種染色體數(shù)目固定與減數(shù)分裂1888年，TheodorBoveri發(fā)現(xiàn)染色體的獨(dú)立性和世代連續(xù)性1892年，AugustWeismann提出種質(zhì)論，Weismannbarrier1902年，TheodorBoveri與WalterSutton提出染色體攜帶遺傳信息有絲分裂與減數(shù)分裂TheMechanismofMendilianHeredity,1915染色體與連鎖群Bateson與Punnett發(fā)現(xiàn)遺傳連鎖(1906)花色與花粉粒性狀配對遺傳“gameticcoupling”果蠅的染色體與連鎖群TheMechanismofMendilianHeredity,1915GroupI(47)AbnormalBarBifidBow…GroupII(27)AntleredApterousArcBalloon…GroupIII(22)BandBeadedCreamIIIDeformed…GroupIV(2)BentEyeless染色體與基因行為的關(guān)聯(lián)分離與自由組合常染色體遺傳伴性遺傳連鎖與交換染色體不分離TheMechanismofMendilianHeredity,1915伴性遺傳TheMechanismofMendilianHeredity,1915染色體與基因行為的關(guān)聯(lián)分離與自由組合常染色體遺傳伴性遺傳連鎖與交換染色體不分離TheMechanismofMendilianHeredity,1915

“thechromosomesfurnishexactlythekindofmechanismthattheMendelianlawscallfor;andsincethereisanever-increasingbodyofinformationthatpointsclearlytothechromosomesasthebearersoftheMendelianfactors,itwouldbefollytocloseone’seyestosopatentarelation.”分子生物學(xué)Avery:

DNA是遺傳物質(zhì)(1944)Watson&Crick:DNA具有雙螺旋結(jié)構(gòu)(1953)Nirenberg&Khorana:三聯(lián)體密碼(1961)Crick:中心法則(1958,1970)Roberts&Sharp:斷裂基因(1977)Gilbert&Sanger:DNA測序(1977)人類基因組測序(2003)細(xì)胞染色體DNA基因………ATCGGGTATACAT………GCACCTGGAATAAACATATAA………||||||||||||||||||||||||||||||||||………TAGCCCATATGTA………CGTGGACCTTATTTGTATATT………/wiki/Central_dogma_of_molecular_biology什么是遺傳學(xué)？“Theobjectoftheendowmentwasthepromotionofinquiriesintothephysiologyofheredity

andvariation,astudynowspokenofasGenetics.” WilliamBateson,1908遺傳信息的組成與傳遞、變異與重組、實現(xiàn)與調(diào)控遺

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析什么是遺傳學(xué)？遺傳分析有什么用？教學(xué)安排什么是遺傳分析？用遺傳學(xué)方法解析生命基因的生物學(xué)功能？基因的作用機(jī)理？是否和疾病相關(guān)？是否有重要利用價值？哺乳類~25,000個基因遺傳分析基本思路A參與眼發(fā)育破壞基因A通過基因突變個體發(fā)現(xiàn)驗證功能通過突變相互作用解析機(jī)理框架B抑制腫瘤破壞基因BC控制體重破壞基因C……DNA復(fù)制ArthurKornberg1958 純化DNA聚合酶

I(PolI)

體外復(fù)制DNA：DNA片段,dNTP,Mg++,聚合酶1959 諾貝爾醫(yī)學(xué)獎

“發(fā)現(xiàn)DNA生物合成機(jī)理”疑問：1)

體外復(fù)制慢：10-20堿基/秒

2)

單鏈s