發(fā)布時間：2018-07-03 18:55

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

【摘要】： 背景及目的:微衛(wèi)星序列是重復單位長度為2～6bp的重復序列,即短串聯重復序列(short tandem repeats,STR)或簡單重復序列(simple sequence repeats, SSRs)。STR是目前法醫(yī)學DNA分析中最常見的一類遺傳標記,因其在人類基因組中分布廣泛,分型技術簡單、快速,可重復性高,是目前國內外法醫(yī)學個體識別和親子鑒定的主要發(fā)展方向。近年來,常染色體和Y染色體STR基因座已得到廣泛的研究與應用,但人類X染色體STR因其獨特的遺傳方式,在法醫(yī)學一些特殊親權鑒定及個人識別案件中有一定的優(yōu)勢。本實驗通過對重慶地區(qū)漢族人群無關個體X染色體上DXS7132、DXS6789、HPRTB、DXS8378四個STR位點的等位基因與基因型的觀察,調查其在重慶漢族群體中的遺傳多態(tài)性,探討其法醫(yī)學意義。 方法:隨機選取重慶地區(qū)(籍貫為重慶市)無血緣關系、健康漢族個體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擴增體系為20ul,分別加入各個基因座特異性引物,設定不同的退火溫度,約30個循環(huán)后,得到含等位基因片段的擴增產物。6!聚丙烯酰胺凝膠電泳,硝酸銀染色分型。四個基因座等位基因頻率、基因型頻率采取直接計數法,X 2檢驗女性樣本Hardy-Weinberg平衡吻合度檢驗,用Promega公司的軟件Powerstates1.2版本和Exel表計算雜合度(Heterozygosity,H),匹配概率(probability of matching, Pm),個人識別力(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)等群體遺傳學指標。 結果:在重慶漢族120名女性和91名男性無關個體中,DXS7132檢出7個等位基因11～17,DXS6789檢出10個等位基因15～24,HPRTB檢出9個等位基因9～17,DXS8378檢出6個等位基因9～14。X 2檢驗男女等位基因頻率分布無顯著性差異。四個基因座在女性個體分別發(fā)現有17,31,28,12種基因型,雜合度分別為0.825,0.808,0.769,0.658,X 2檢驗女性基因型頻率分布均符合Hardy-Weinberg平衡(P0.05)。四個等位基因座DXS7132/DXS6789/HPRTB/DXS8378女性個人識別率分別為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行了比較,發(fā)現均有一定的差異。 結論: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)性數據。四個基因座均具有基因頻率分布較好、多態(tài)信息量大、個體識別率高的特點,其等位基因分布在不同地區(qū)的不同人群中具有差異性。本次研究結果為構建法醫(yī)DNA數據庫和群體遺傳學數據庫提供了基礎數據,為重慶地區(qū)開展人類遺傳學研究、漢族人群個人識別和親子鑒定提供了新的遺傳標記信息。
[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，

本文編號：2094670