山西省高平地区汉族人群19个短串联重复系列基因座遗传多态性调查

The investigation on genetic polymorphisms of 19 STR loci in Han population in Gaoping of Shanxi

目的：调查19个短串联重复系列（STR）基因座在山西省高平市汉族人群中的遗传多态性,并对其法医学应用进行评价。方法：采用Goldeneye20A STR荧光标记复合扩增试剂盒,对山西省高平市汉族210份无关个体进行扩增,利用3130XL遗传分析仪对扩增产物进行电泳分型,统计D19S433等19个STR基因座的等位基因频率和法医遗传学数据。结果：获得19个STR基因座的等位基因频率分布,分别检出10,9,15,13,13,6,8,7,7,7,10,8,9,5,17,6,11,13,17个等位基因,并分别获得19个STR基因座的杂合度观察值（Ho）、杂合度期望值（He）、个人设别能力（DP）、偶合率（PM）、非父排除率（PE）及多态信息总量（PIC）等法医遗传学参数,累积个人识别率和累积非父排除率分别为1～1.49×10^（-22）和0.999 999 993。结论：Goldeneye20A STR荧光标记复合扩增体系的19个STR基因座在山西省高平市汉族人群中具有较高的个体识别能力和遗传多态性,对于法医学个体识别和亲子鉴定具有重要的应用价值。

Objective： To study the genetic polymorphisms of short tandem repeats（ STR） loci in Han population in Gaoping of Shanxi province,and evaluate their forensic application. Methods： Nineteen STR loci including D19S433 were amplified by using a Goldeneye 20 A STR Amplification Kit,and analyzed by 3130 XL genetic analyzer. 210 unrelated individuals of Han population in Gaoping city of Shanxi province were investigated to obtain the allele frequencies and forensic genetics data. Results： Allele distributions of the 19 STR loci have been obtained. 10,9,15,13,13,6,8,7,7,7,10,8,9,5,17,6,11,13 and 17 alleles were found in the preview 19 STR loci. We also obtained some parameter of forensic genetics respectively,such as heterozygosit（ Ho）,expected heterozygosity（ He）,discrimination power（ DP）,matching probability（ PM）,probability of paternity exclusion（ PE） and polymorphism information content（ PIC）. The cumulative discrimination power（ CDP） and cumulative probability of exclusion（ CPE） of 19 loci is 1 - 1. 49 × 10- 22 and 0. 999 999 993. Conclusion： The 19 STR loci are highly polymorphic and suitable for forensic personal identification and paternity testing in Gaoping city of Shanxi province. There are significant value in the application of forensic personal identification and paternity testing.