目的分析西藏昌都藏族常染色体上15个短串联重复序列(short tandem repeat,STR)位点(D5S818,FGA,D8S1179,D21S11,D7S820,CSF1PO,D3S1358,TH01,D13S317,D16S539,D2S1338,D19S433,vWA,TPOX,D18S51)基因多态性,并分析它们与亚洲其他人群间的遗传学关系。方法采用PCR—STR及基因扫描技术,用ABI3100遗传分析仪检测15个STR基因多态性,研究昌都藏族101名无关个体15个STR位点的基因频率的分布特点。用ARLEQUIN3.0软件计算等位基因频率和各种多态性参数。结果西藏昌都藏族群体中15个STR位点上观察到135个等位基因,等位基因频率分布在0.0065~0.5455之间;平均杂合度为0.7340,个体识别力除了TPOX(0.7927)和TH01(0.7919)外均大于0.8,累计个体识别力为0.9999998,累计非父排除率为0.99999997。结论西藏昌都藏族15个STR位点均具有高度遗传多态性,是群体遗传学研究和法医学鉴定的可选位点。
Objective To investigate the genetic polymorphism of 15 autosomal short tandem repeat (STR) loci, i. e. D5S818, FGA, D8Sl179, D21Sll, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX and D18S51, in Tibetan population of Changdu area, and to analyze the genetic relationship between this population and other Asian populations. Methods The 15 loci were amplified simultaneously using a multiplex PCR typing system. Amplified STR fragments were analyzed with an ABI PRISM 3100 Avant DNA Analyzer. Arlequin software version 3.1 was used to obtain allele frequencies and polymorphism parameters. Results There were 135 STR alleles in the 15 STRs of Changdu Tibetan, with allele frequencies ranging from 0. 0065 to 0. 5455. The average heterozygosity was 0. 7340, the discrimination power was higher than 0. 8 except for TPOX and TH01. The accumulative discrimination power was more than 0. 9999998, and the accumulative non-parental exclusion probability was 0. 99999997. Conclusion The 15 STR loci of Changdu Tibetan possess characteristics of high genetic diversity. They can be employed in minority genetics investigation, and individual and paternity test in forensic medicine.