广西壮族人群13个单核苷酸基因座遗传多态性

目的 采用荧光标记复合扩增单核苷酸多态性(single nucleotide polymorphism,SNP)体系对广西地区壮族314名个体的13个SNP基因座进行等位基因频率调查,并评价其法医学应用价值.方法 选择13个常染色体双等位基因SNP基因座,应用荧光标记片段长度差异等位基因特异性复合扩增SNP分型体系,对广西地区壮族人群进行群体调查.结果 获得了广西地区壮族人群13个SNP基因座的等位基因频率,13个SNP基因座等位基因频率分布均符合Hardy-Weinberg平衡,杂合度位于0.2166和0.5478之间,多态信息总量位于0.2084与0.3750之间,13个SNP基因座累积个人识别几率和累积非父排除率均分别达到99.99%和87.71%.结论 用荧光标记复合扩增片段长度差异等位基因特异性PCR法可同时对多个SNP基因座进行分型;13个SNP基因座在法医学个人识别领域具有较高的应用价值.

Study on genetic polymorphisms of 13 SNP loci in Guangxi Zhuang population of China

Objective The fluorescence labeled muhi-PCR system was applied to investigate the allele frequency of the 13 single nueleotide polymorphism(SNP) in 314 Guangxi Zhuang populations, and to evaluate their application value in forensic medicine. Method Thirteen autosomal diallelic SNP loci were selected and the SNP genotyping system of fragment length discrepant allele specific fluorescence labeled muhi-PCR technique was applied to investigate their allele frequency distribution in Guangxi Zhuang population. Results The allele frequencies of the 13 single nucleotide pdymorphism (SNP) in Guangxi Zhuang population were obtained, which shows that the allele frequency distribution is in accordance with Hardy-Weinberg equilibrium. Their heterozygosity was between 0.2166 and 0.5478, the polymorphism information content was between 0.2084 and 0.3750, their cumulate discrimination probability was 99.99 %, and the cumulate exclusion power was 87.710%. Conclusion Several SNP loci could be genotyped simultaneously using the fluorescence labeled fragment length discrepant muhiplex-PCR technique; the 13 SNP loci have a highly applicable value in the field of forensic personal identification.