基因診斷常用技術(shù)

1、l1950s-Rosalind Franklin (1920-1957) discover chemical structure of DNA, starting a new branch of science-molecular biology.lWatson and Crick made a model of the DNA molecule and proved that genes determine heredity. l1957-Arthur Kornberg (1918- ) of the U.S. produced DNA in a test tube. l1966-The G

2、enetic code was discovered; scientists are now able to predict characteristics by studying DNA. This leads to genetic engineering, genetic counseling. l1972-Paul Berg (1926- ) of the U.S. produced the first recombinant DNA molecule. l1983-Dr. Kary Mullis discovered the PCR procedure, for which he wa

3、s awarded the Nobel prize. l2000-J. Craig Ventor, along with Francis Collins, jointly announce the sequencing of the entire human genome Enpromoter5E1GTAG15UT33UT人類結(jié)構(gòu)基因包括人類結(jié)構(gòu)基因包括4個(gè)區(qū)域：編碼區(qū)：包括外顯子、內(nèi)含子個(gè)區(qū)域：編碼區(qū)：包括外顯子、內(nèi)含子 前導(dǎo)區(qū)：編碼區(qū)上游前導(dǎo)區(qū)：編碼區(qū)上游 尾部區(qū)：編碼區(qū)下游尾部區(qū)：編碼區(qū)下游 調(diào)控區(qū)：包括啟動(dòng)子、增強(qiáng)子等調(diào)控區(qū)：包括啟動(dòng)子、增強(qiáng)子等E2I2轉(zhuǎn)錄起始點(diǎn)轉(zhuǎn)錄起始點(diǎn)終止密碼終止

4、密碼AATAAA轉(zhuǎn)錄終止點(diǎn)轉(zhuǎn)錄終止點(diǎn) 1 ggggacagcc agggacaggc agacatgcag ccagggctcc agggcctgga caggggctgc 61 caggccctgt gacaggagga ccccgagccc ccggcccggg gaggggccat ggtgctgcct 121 gtccaacatg tcagccgagg tgcggctgag gcggctccag cagctggtgt tggacccggg 181 cttcctgggg ctggagcccc tgctcgacct tctcctgggc gtccaccagg agctgggcgc 241

5、ctccgaactg gcccaggaca agtacgtggc cgacttcttg cagtgggcgg agcccatcgt 第一代診斷技術(shù)第一代診斷技術(shù)- - 限制性片段長(zhǎng)度多態(tài)性檢測(cè)（限制性片段長(zhǎng)度多態(tài)性檢測(cè)（RFLPRFLP）鐮性細(xì)胞貧血鐮性細(xì)胞貧血第一代診斷技術(shù)第一代診斷技術(shù)- - Southern Southern雜交雜交SouthernSouthern雜交基本步驟雜交基本步驟Deletion第一代診斷技術(shù)第一代診斷技術(shù)- - DNA DNA體外擴(kuò)增技術(shù)體外擴(kuò)增技術(shù)（PCR）PCRPCR技術(shù)出現(xiàn)的背景技術(shù)出現(xiàn)的背景 1955年發(fā)現(xiàn) DNA polymerase I； 70年代的初期發(fā)現(xiàn)具有實(shí)驗(yàn)價(jià)值及可得性Klenow fragment 1971年Dr. Kjell Kleppe 提出類似基因修復(fù)復(fù)制 的PCR原始雛形概念； 1976年從熱泉的細(xì)菌(Thermus Aquaticus) 中分離出能耐高溫 Taq polymerase； 1983年Dr