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 was 0.5891-0.9124, power of discrimination was 0.7818-0.9831, polymorphic information content was 0.5425-0.9031, probability of exclusion for trio-paternity testing was 0.2780-0.8208, and probability of exclusion for duo-paternity testing was 0.193-0.693. The combined power of discrimination was over 0.999 999 999 999 99, the combined probability of exclusion for trio-paternity identification was 0.999 999 999 729 813, and the combined probability of exclusion for duo-paternity identification 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.

本文利用苏州市公安系统DNA数据库资源，进行大规模汉族人群的15个基因座的遗传多态性分析。采用AmpFISTR Identiifler试剂盒、AmpFISTR Identiifler Plus试剂盒、AGCU 17+1试剂盒进行扩增，经测序后获得510000名汉族个体15个STR基因座的DNA分型，应用Excel软件计算等位基因的分布频率等群体遗传学数据。在15个STR基因座共检出等位基因344个、基因型1890个。所调查的汉族人群15个基因座具有较好的识别力。