广东省韶关地区汉族人群20个STR基因座的遗传多态性

Genetic polymorphism of 20 autosomal STR loci in Chinese Han population in Shaoguan,Guangdong

目的了解广东省韶关地区汉族群体的20个常染色体基因座的遗传多态性。方法采集953例广东省韶关地区汉族无关个体的血样,以Chelex-100法提取DNA后,进行荧光标记复合扩增系统扩增20个常染色体基因座(D3S1358、D1S1656、D6S1043、D13S317、PentaE、D16S539、D18S51、D2S1338、CSF1PO、PentaD、TH01、vWA、D21S11、D7S820、D5S818、TPOX、D8S1179、D12S391、D19S433、FGA),以ABI 3130xl自动遗传分析仪对扩增产物进行毛细电泳检测及STR基因分型分析,用Modified-Powerstates、Cervus、Arlequin v3.5软件对各基因座进行统计分析群体遗传参数及Hardy-Weinberg平衡检验、连锁不平衡检验。结果在953例广东省韶关地区汉族人群中,20个常染色体基因型分布均符合Hardy-Weinberg平衡定律(P>0.05),不存在连锁不平衡现象,累积个体识别力(TDP)为1-4.0914×10^-25,三联体累积非父排除率(CPEtri)为0.999999998527,二联体累积非父排除率(CPEduo)为0.99999672。结论这20个常染色体基因座在广东省韶关地区汉族人群中具有较高的遗传多态性和较好的个体识别能力,能满足该地区法医学个体识别和亲权鉴定以及DNA数据库建立的需要。

Objective To explore the genetic polymorphism of 20 autosomal STR loci in Chinese Han population in Shaoguan,Guangdong.Methods Blood samples were collected from 953 unrelated individuals in Shaoguan,Guangdong.The DNA was extracted with Chelex-100 for the PCR amplification of 20 autosomal STR loci(D3S1358,D1S1656,D6S1043,D13S317,Penta E,D16S539,D18S51,D2S1338,CSF1PO,Penta D,TH01,vWA,D21S11,D7S820,D5S818 D8S1179,D12S391,TPOX,D19S433 and FGA).The amplification products were analyzed and genotyped with ABI 3130 xl automatic genetic analyzer.Statistical analysis of population genetic parameters for each locus and Hardy-Weinberg balance test and linkage disequilibrium test were carried out with Modified-Powerstates software,Cervus and Arlequin v3.5.Results In 953 cases of Chinese Han population in Shaoguan,Guangdong,20 autosomal STR loci distribution were consistent with HardyWeinberg equilibrium(P>0.05),and there was no chain imbalance.The total probability of discrimination power(TDP)was 1-4.0914×10^-25.The CPEtri was 0.999999998527 and the CPEduo was 0.99999672.Conclusion The 20 autosomal STR loci in Chinese Han population in Shaoguan,Guangdong are highly polymorphic and have better discrimination power,which can meet the requirement for individual identification,paternity identification and DNA database establishment.