四川省夹江县人群18个STR位点的遗传多态性

Genetic Polymorphism of 18 Short Tandem Repeat Loci in Jiajiang County of Sichuan Province

目的：利用DNATyper TM19试剂盒研究18个短串联重复序列（Short Tandem Repeat,STR）位点（D5S818、D21S11、D7S820、CSF1PO、D2S1338、D3S1358、v WA、D8S1179、D16S539、Penta E、TPOX、TH01、D19S433、D18S51、FGA、D6S1043、D13S317、D12S391）在四川省夹江县人群中的基因频率分布和群体遗传学参数,并计算DNATyperTM19试剂盒的相关技术参数。方法：利用血卡直接作为模板,采用PCR扩增和毛细管电泳检测技术对226名个体的18个STR基因座进行分析,并使用Power Stats V12软件统计分析。结果：共检出202种等位基因,基因频率分布在0.002~0.527之间。18个STR基因型分布均符合Hardy-Weinberg平衡（P〉0.05）,杂合度均不低于0.633,随机匹配概率均不低于0.018,个人识别能力均不小于0.790,多态信息含量均不小于0.56,非父排除概率均不小于0.332,典型父权指数均不小于1.36。结论：本文研究了四川省夹江县人群18个STR位点的遗传多态性,为人类群体遗传学及法医学后续研究提供详实可靠的基础数据。DNATyperTM19试剂盒的累积随机匹配概率达到3.477×10-22,累积非父排除概率为0.999999974。

Objective： The aim of this study was to determine the allele frequencies and population genetic parameters of 18 STR（short tandem repeat） loci（D5S818, D21S11, D7S820, CSF1 PO, D2S1338, D3S1358, v WA, D8S1179, D16S539, Penta E, TPOX,TH01, D19S433, D18S51, FGA, D6S1043, D13S317, and D12S391） in Jiajiang county of Sichuan province and to calculate the technical parameters of the DNATyperTM19 kit. Methods： PCR amplification using blood as template directly and capillary electrophoresis technologies were employed to determine the genotypes of 18 STR loci for 226 individuals. Power Stats V12 software was used for analysis and statistics. Results： 202 alleles were recognized, with frequencies ranging from 0.002 to 0.527. No departures from Hardy-Weinberg expectations were detected for all 18 loci studied（P〈0.05）. The statistical analysis of 18 STR loci showed the heterozygosity ≥0.633, the matching probability ≥0.018, the discrimination power ≥0.790, the polymorphic information content ≥0.56, the probability of paternity exclusion ≥0.332, and the typical paternity index ≥1.36. Conclusion： This work studied the genetic polymorphism of 18 short tandem repeat loci in Jiajiang county of Sichuan province providing pronounced basic data for subsequent human population genetic and forensic DNA research work. The cumulative matching probability of the DNATyperTM19 kit reaches 3.477×10-22, while its cumulative excluding probability of paternity is 0.999999974.