發(fā)布時(shí)間：2018-07-03 18:55

  本文選題：重慶 + 漢族　； 參考：《重慶醫(yī)科大學(xué)》2010年碩士論文

【摘要】： 背景及目的:微衛(wèi)星序列是重復(fù)單位長(zhǎng)度為2～6bp的重復(fù)序列,即短串聯(lián)重復(fù)序列(short tandem repeats,STR)或簡(jiǎn)單重復(fù)序列(simple sequence repeats, SSRs)。STR是目前法醫(yī)學(xué)DNA分析中最常見(jiàn)的一類(lèi)遺傳標(biāo)記,因其在人類(lèi)基因組中分布廣泛,分型技術(shù)簡(jiǎn)單、快速,可重復(fù)性高,是目前國(guó)內(nèi)外法醫(yī)學(xué)個(gè)體識(shí)別和親子鑒定的主要發(fā)展方向。近年來(lái),常染色體和Y染色體STR基因座已得到廣泛的研究與應(yīng)用,但人類(lèi)X染色體STR因其獨(dú)特的遺傳方式,在法醫(yī)學(xué)一些特殊親權(quán)鑒定及個(gè)人識(shí)別案件中有一定的優(yōu)勢(shì)。本實(shí)驗(yàn)通過(guò)對(duì)重慶地區(qū)漢族人群無(wú)關(guān)個(gè)體X染色體上DXS7132、DXS6789、HPRTB、DXS8378四個(gè)STR位點(diǎn)的等位基因與基因型的觀察,調(diào)查其在重慶漢族群體中的遺傳多態(tài)性,探討其法醫(yī)學(xué)意義。 方法:隨機(jī)選取重慶地區(qū)(籍貫為重慶市)無(wú)血緣關(guān)系、健康漢族個(gè)體211名(女120名,男91名)靜脈血500ul,EDTA抗凝,用Chelex-100法提取基因組DNA后,-20℃保存。PCR擴(kuò)增體系為20ul,分別加入各個(gè)基因座特異性引物,設(shè)定不同的退火溫度,約30個(gè)循環(huán)后,得到含等位基因片段的擴(kuò)增產(chǎn)物。6!聚丙烯酰胺凝膠電泳,硝酸銀染色分型。四個(gè)基因座等位基因頻率、基因型頻率采取直接計(jì)數(shù)法,X 2檢驗(yàn)女性樣本Hardy-Weinberg平衡吻合度檢驗(yàn),用Promega公司的軟件Powerstates1.2版本和Exel表計(jì)算雜合度(Heterozygosity,H),匹配概率(probability of matching, Pm),個(gè)人識(shí)別力(probability of discrimination power , DP),非父排除率(exclusion probability of paternity, PE)、多態(tài)信息總量(polymorphism information content, PIC)等群體遺傳學(xué)指標(biāo)。 結(jié)果:在重慶漢族120名女性和91名男性無(wú)關(guān)個(gè)體中,DXS7132檢出7個(gè)等位基因11～17,DXS6789檢出10個(gè)等位基因15～24,HPRTB檢出9個(gè)等位基因9～17,DXS8378檢出6個(gè)等位基因9～14。X 2檢驗(yàn)?zāi)信�等位基因頻率分布無(wú)顯著性差異。四個(gè)基因座在女性個(gè)體分別發(fā)現(xiàn)有17,31,28,12種基因型,雜合度分別為0.825,0.808,0.769,0.658,X 2檢驗(yàn)女性基因型頻率分布均符合Hardy-Weinberg平衡(P0.05)。四個(gè)等位基因座DXS7132/DXS6789/HPRTB/DXS8378女性個(gè)人識(shí)別率分別為0.910,0.955,0.939,0.806;非父排除率分別為0.646,0.615,0.543,0.367。再與不同地區(qū)及不同民族的等位基因頻率分布進(jìn)行了比較,發(fā)現(xiàn)均有一定的差異。 結(jié)論:本研究首次提供了重慶地區(qū)漢族人群DXS7132,DXS6789,HPRTB,DXS8378基因座分布多態(tài)性數(shù)據(jù)。四個(gè)基因座均具有基因頻率分布較好、多態(tài)信息量大、個(gè)體識(shí)別率高的特點(diǎn),其等位基因分布在不同地區(qū)的不同人群中具有差異性。本次研究結(jié)果為構(gòu)建法醫(yī)DNA數(shù)據(jù)庫(kù)和群體遺傳學(xué)數(shù)據(jù)庫(kù)提供了基礎(chǔ)數(shù)據(jù),為重慶地區(qū)開(kāi)展人類(lèi)遺傳學(xué)研究、漢族人群個(gè)人識(shí)別和親子鑒定提供了新的遺傳標(biāo)記信息。
[Abstract]:Background & AIM: microsatellite sequences are repetitive sequences with unit length of 2~6bp, that is, short tandem repeats (short tandem repeats) or simple repeats (simple sequence repeats, SSRs). STRs are the most common genetic markers in forensic analysis. Because of its wide distribution in the human genome, simple typing technique, high reproducibility and rapidity, it is the main development direction of forensic individual identification and paternity identification at home and abroad. In recent years, autosomal and Y chromosome STR loci have been widely studied and applied, but human X chromosome STR has some advantages in forensic medicine in some special paternity identification and personal identification cases because of its unique genetic way. In this experiment, the alleles and genotypes of four STR loci of DXS7132FDXS6789HPRTBHXS8378 in unrelated individuals of Han nationality in Chongqing were observed and their genetic polymorphisms in Chongqing Han population were investigated and their forensic significance was discussed. Methods: a total of 211 healthy Han individuals (120 females and 91 males) were randomly selected from Chongqing area (native city of Chongqing) to study the anticoagulant effects of EDTA in venous blood. The genomic DNA was extracted by Chelex-100 method and stored at 20 鈩，

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