中国南方汉族23个常染色体短串联重复基因座的遗传多态性

Genetic polymorphisms of 23 autosomal short tandem repeat loci among ethnic Han Chinese from southern China

目的 调查23个常染色体短串联重复(short tandem repeat, STR)基因座在中国南方汉族群体中的遗传多态性。 方法 应用荧光标记复合扩增和毛细管电泳技术对331名中国南方汉族无关正常个体23个常染色体STR基因座(CSF1PO、FGA、TH01、TPOX、vWA、D1S1656、D2S1338、D2S441、D3S1358、D5S818、D7S820、D8S1179、D10S1248、D12S391、D13S317、D16S539、D18S51、D19S433、D21S11、D22S1045、D6S1043、Penta D、Penta E)进行基因分型,统计各基因座遗传学参数。 结果 23个常染色体STR基因座的基因频率分布经过Bonferroni统计学校正均符合Hardy-Weinberg平衡(P>0.05)。23个STR基因座共检出265个等位基因,890种基因型。各个基因座的等位基因数为5~22,基因频率为0.0015~0.5483,杂合度为0.5891~0.9124,个人识别能力为0.7818~0.9831,多态性信息含量为0.5425~0.9031,三联体非父排除率为0.2780~0.8208,二联体非父排除率为0.193~0.693。累积个人识别能力大于0.999 999 999 999 99,三联体累积非父排除率为0.999 999 999 729 813,二联体累积非父排除率为0.999 999 207 508 474。 结论 中国南方汉族群体的23个常染色体STR基因座是多态性程度高的遗传标记,是一个高效的检测系统,可以应用于法医亲子鉴定、个体识别及群体遗传学研究。

Objective To study genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci among ethnic Han Chinese from southern China.Methods The 23 autosomal STR loci among 331 unrelated healthy Han Chinese from southern China were genotyped with fluorescent multiplex amplification and capillary electrophoresis. Genetic parameters were subjected to statistical analysis.Results In total 265 alleles and 890 genotypes were detected for the 23 STR loci. The numbers of alleles were 5-22, allelic frequency was 0.0015-0.5483, heterozygosity (H) was 0.5891-0.9124, power of discrimination (DP) was 0.7818-0.9831, polymorphic information content (PIC) was 0.5425-0.9031, probability of exclusion for trio-paternity testing (PEt) was 0.2780-0.8208, and probability of exclusion for duo-paternity testing (PEd) was 0.193-0.693. The combined power of discrimination (CPD) was over 0.999 999 999 999 99, the combined probability of exclusion for trio-paternity identification (CPEt) was 0.999 999 999 729 813, and the combined probability of exclusion for duo-paternity identification (CPEd) was 0.999 999 207 508 474, respectively. The 23 STR loci showed no significant deviation from Hardy-Weinberg disequilibrium after Bonferroni correction (P>0.05).Conclusion The 23 autosomal STR loci were highly polymorphic among ethnic Han Chinese from southern China, which showed a high efficiency for paternity testing, personal identification and population genetics.