四川省资阳地区汉族人群18个STR基因座的遗传多态性分析

Genetic Polymorphisms of 18 STR Loci of Han Population in Ziyang of Sichuan Province

目的研究四川资阳地区汉族人群中D5S818,D21S11,D7S820,CSF1PO,D2S1338,D3S1358,v WA,D8S1179,D16S539,Penta E,TPOX,TH01,D19S433,D18S51,FGA,D6S1043,D13S317,D12S3911等18个短串联重复序列基因座的遗传多态性。方法采用PCR扩增及毛细管电泳技术对272名无血缘关系汉族个体的18个常染色体STR基因座进行分析。结果所有基因座基因频率均符合Hardy-Weinberg平衡(P>0.05),18个STR基因座H值为0.710~0.938,Pm为0.020~0.129,DP为0.871~0.980,PIC为0.672~0.904,PE为0.443~0.872。结论四川资阳地区汉族人群18个基因中除了D3S1358基因座的遗传多态性稍低以外,其余的17个STR基因座均具有比较高的遗传多态性,为群体遗传学和法医学后续研究提供了基础数据。

Objective To explore the allele frequencies and parameters of 18 short tandem repeat（STR） loci（D5 S818,D21 S11,D7 S820,CSF1 PO,D2 S1338,D3 S1358,v WA,D8 S1179, D16 S539,Penta E,TPOX,TH01,D19 S433,D18 S51,FGA,D6 S1043,D13 S317,D12 S391） in Han population of Ziyang region of Sichuan Province. Methods PCR amplification and capillary electrophoresis technologies were used to determine the genetic polymorphisms of 18 STR loci from 272 unrelated Han individuals. Results The frequency of each locus was calculated depending on the numbers of each observed genotype. Deviation from Hardy-Weinberg equilibrium（P〉0.05） and observed heterozygosity were calculated. In the 272 Han population, heterozygosity（H value） of 18 STR loci ranged between 0.710 and 0.938; matching probability（Pm） between 0.020 and 0.129; power of discrimination（ DP） between 0.871 and 0.980; polymorphic information content（PIC） between 0.672 and 0.904; power of exclusion（PE） between 0.443 and 0.872. Conclusion Expcept for D3 S1358 locus, the other 17 STR loci have relatively high genetic polymorphisms in the Han population of Ziyang in Sichuan province. Our results will provide basic data for population genetics and forensic science.