中国南方汉族人群STR位点遗传多态性研究及其在亲子鉴定中的应用

目的 调查中国南方汉族人群的D8Sll79、D21Sll、D18S51、D5S818、vWA、FGA、D3S1358、D13S317、D7S820等9个短串联重复(STR)位点多恋性，探索STR基因分析在亲子鉴定案例中的应用价值。方法 应用PCR复合扩增和四色荧光自动化检测技术对574名南方汉族无关个体的9个STR位点作基因分型。结果 获得中国南方汉族人群中9个STR位点的等位基因频率，其基因型分布符合Hardy—Weinberg平衡。经统计分析，D8Sll79、D21Sll、D18S51、D13S317、D7S820、D5S818、vWA和FGA位点属于高鉴别力、高杂合度、高信息含量的STR位点，D3S1358属于中高度多态性位点。9个STR位点的累积个体识别能力(DP)、多态信息含量(PIC)、杂合度(H)和非父排除率(PE)均为0.9999。在210例亲子鉴定案例中，否定亲权的28个案例中均至少有3个位点不符；认定亲权的182例中，亲子关系指数(RCP)大于99．73％的有179例(98．35％，179／182)，另外3例(1．65％，3／182)RCP值为95．00％一99．73％。结论 研究获得了中国南方汉族人群中9个STR位点的等位基因频率。应用这9个STR位点的等位基因鉴定，能成功地开展亲子鉴定，显提高亲子关系指数。

A genetic study on nine short tandem repeat (STR) loci among Han population in southern China and their application in parentage testing

Objective To study the genetic polymorphism of nine STR loci which included D8S1179,D2 1S11,D18S5 1, D5 S818,D13S317,D7S82 0 ,D3S135 8,v WA,FGA among Han population in southern China and their application in parentage testing.Methods The nine STR loci of 5 74 unrelated individuals of Han population in the area of southern China were genotyped by PCR m ultiplex and autom ated analyzed.Results All allele frequencies were calculated and their distributions were in accordance with Hardy- Weinberg equilibrium.The results showed that eight STR loci had high inform ation except that D3S135 8was m iddle- high.The data of com bined discrimination power,polym orphism information content,heterozygosity and power of exclusion were all 0 .9999.Among the2 10 cases of parentage testing,2 8cases of exclusive paternity were incoordinate with more than 3loci.Among the 182 cases of determined paternal relation,the relative chance of paternity (RCP) in179cases(98.35 % ,179/ 182 ) was greater than99.73% .Conclusion We obtain all the allele frequencies of these nine STR loci am ong Han population in southern China.The results suggest that STR genetic study can be applied to parentage testing,and it will increase the RCP obviously.