北京汉族21个STR基因座的群体遗传学调查与法医应用评价

目的调查459例北京汉族无关个体21个常染色体非CODIS的STR基因座遗传多态性并评价其应用价值。方法用AGCU21＋1荧光标记复合扩增系统对459例无关个体的21个STR基因座（D6S474、D12SATA63、D22S1045、D10S1248、D1S1677、D11S4463、D1S1627、D3S4529、D2S441、D6S1017、D4S2408、D19S433、D17S1301、D1GATA113、D18S853、D20S482、D14S1434、D9S1122、D2S1776、D10S1435、D5S2500）进行检验。得到STR分型后,用相关软件进行统计分析并计算法医学应用参数。结果获得21个STR基因座的频率分布;相关参数为：H值从0.5894-0.8038,PD值从0.7898-0.9265,PE3值从0.3618-0.6029,PE2值从0.2031-0.4256,PIC值从0.5638到0.7640。结论联合应用Identifiler系统和AGCU21＋1系统,有利于亲子关系的认定及对可疑突变的判断。

Polymorphism analysis and evaluation of 21 non CODIS STR loci in the Beijing Han population

Objective To investigate and evaluate the genetic polymorphism data of twenty-one STR loci in Beijing Han population by 459 case.Methods The 21 STR loci（D6S474 、D12SATA63、 D22S1045、D10S1248、D1S1677、D11S4463、D1S1627、D3S4529、D2S441、D6S1017、D4S2408、D19S433、D17S1301、D1GATA113、D18S853、D20S482、D14S1434、D9S1122、D2S1776、D10S1435、D5S2500）were amplified with AGCU21＋1 kit.Then,the genetic data and the forensic parameters were analyzed statistically with the software.At last,we evaluated the effect of the application in some real paternity test cases.Results We obtained the distribution of the 21 STR loci,and the statistical result showed that the heterozygosis（H） ranged from 0.5894 to 0.8038;the power of discrimination（DP） ranged from 0.7898 to 0.9265;the power of exclusion about trio parentage test（PE3） ranged from 0.3618 to 0.6029;the power of exclusion about duo parentage test（PE2） ranged from 2031 to 0.4256;the polymorphic information content（PIC） ranged from 0.5638 to 0.7640.A higher paternity index scores and higher exclusion rate were obtained by using the Identifiler and the AGCU21＋1 identification system both.Conclusion The 21 loci were relatively highly genetic polymorphic in Beijing Han population and could be valuable for paternity test.They are useful tools in forensic paternity test,genetic and anthropological study.