山西地区汉族人群六个短串联重复序列基因座的遗传多态性

目的 分析山西地区汉族D9S925、D11S2368、D14S608、D15S659、D17S1290、D20S470等6个短串联重复序列(short tandem repeat,STR)基因座的遗传多态性.方法 根据GenBank资料合成D9S925、D11S2368、D14S608、D17S1290、D20S470基因座引物,自行设计D15S659引物,对山西汉族194个无关个体DNA进行PCR扩增,3130型基因分析仪电泳分析,GeneMapper(R)3.2分析等位基因片段大小,测序后命名.结果 6个STR基因座基因型频率分布符合Hardy-Weinberg平衡(P＞0.05).6个STR基因座的多态性信息含量在0.750～0.860之间,杂合度在0.756～0.894之间,个体识别力在0.920～0.965之间,非父排除概率在0.519～0.784之间,累积非父排除率为0.9988,累积个体识别能力为0.99999998.结论 本次研究的6个STR基因座在山西汉族群体中等位基因频率分布均匀,多态性好,适用于法医学亲子鉴定及个人识别,可作为现有基因座的补充.

Genetic polymorphism of 6 short tandem repeat loci in Chinese Han population in Shanxi

Objective To obtain the polymorphism data of six short tandem repeat (STR) loci, i.e.D9S925,D11S2368, D14S608, D15S659, D17S1290 and D20S470, in Chinese Han population in Shanxi province, and to evaluate the usefulness of the polymorphism data in forensic science. Methods The D9S925, DllS2368, D14S608, D17S1290 and D20S470 primers were synthesized according to GenBank,while the D15S659 primers were self-designed. These primers were used to amplify DNA from 194 unrelated individuals collected from Shanxi Han population. Then the amplified fragments were separated by electrophoresis in 3130 Genetic Analyzer. GeneMapper(R) 3.2 software was used to analyze the results.Results The distributions of genotypes for the six STR loci were in accordance with Hardy-Weinberg equilibrium. The polymorphism information content (PIC) of the six STR loci were from 0.750 to 0.860,and the heterozygosity ranged from 0.756 to 0.894, and the discrimination power were from 0.920 to 0.965, and the probability of exclusion were from 0.519 to 0.784. The combined probability of exclusion and the combined discrimination power were 0.9988 and 0.99999998, respectively. Conclusion The data indicated that D9S925, D11S2368, D14S608, D15S659, D17S1290 and D20S470 loci have high probability of exclusion and discrimination power. They can be used as genetic markers in forensic test and personal identification.