重庆地区5个miniSTR基因座群体遗传学研究

Block population genetics research of five miniSTR loci in Chongqing

目的:建立荧光标记D1S1676、D2S441、D3S4529、D22S1045、amelogenin 5个mini短串联重复序列(Short tandem repeat,STR)基因座复合扩增体系,并对重庆地区汉族200名无关个体此5个基因座的遗传多态性进行研究分析。方法:分别用5’TAMRA标记D1S1676引物,5’6-FAM标记D2S441和D3S4529引物,5’HEX标记D22S1045引物,5’TET标记amelogenin引物,构建及优化符合扩增体系,运用3130基因分析仪检测并收集电泳结果数据,通过Gene Mapper v3.2.1软件计算扩增产物片段相对大小以及进行样本基因型分型。结果:5个miniSTR基因座荧光标记复合扩增体系每个位点都获得清晰的分型结果。对重庆地区汉族无关个体200份血样进行分型,5个基因座分别检出9、9、8、9、2个等位基因和103种基因型,其基因型分布均符Hardy-Weinberg平衡。其中D1S1676、D2S441、D3S4529、D22S1045基因座在重庆汉族群体的杂合度(Heterozygosity,Ho)分别依次为0.710、0.765、0.730、0.710;多态信息含量(Polymorphism information content,PIC)分别依次为:0.660 041、0.798 329、0.753 177、0.797 888;累计非父排除率(Exclusion probability of paternity,EP)为0.924 800 4,累计个人识别率为0.999 955 1。结论:荧光标记D1S1676、D2S441、D3S4529、D22S1045、amelogenin 5个miniSTR基因座复合扩增体系,每个基因座可获得准确分型;重庆汉族群体该5个基因座的遗传学数据,可作为群体遗传学和法医学研究与应用的基础资料。

Objective：To develop a fluorescent labeled multiplex amplification system which is consisted of 5 mini short tandem repeat（miniSTR）loci（D1S1676,D2S441,D3S4529,D22S1045 and amelogenin）and to analyze the genetic polymorphism of 200 unrelated Han people in Chongqing.Methods：Primer of D1S1676 was labeled with 5’TAMRA,D2S441 and D3S4529 were labeled with 5’6-FAM,D22S1045 was labeled with 5’HEX and amelogenin was labeled with 5’TET and the multiplex amplification system was established.Data were collected by the 3130 gene analyzer,the length of the amplification fragments was calculated and the genotyping was made using Gene Mapper v3.2.1 software.Results：Every locus of the 5 fluorescent labeled miniSTR multiplex amplification systems can be genotyped clearly.The data of genotyping showed that 9,9,8,9,2 alleles and 103 genotypes were obtained from blood sample of 200 unrelated Han people in Chongqing and the distribution of the genotypes was in accordance with the Hardy-Weinberg equilibrium.The heterozygosis（Ho）and the polymorphism information content（PIC）of the 5 loci in Chongqing Han population were 0.710,0.765,0.730,0.710 and 0.660 041,0.798 329,0.753 177,0.797 888,respectively.The cumulate exclusion probability of paternity（CPE）was 0.924 800 4 and the total probability of discrimination power（TPD）was 0.999 955 1.Conclusions：Each locus（D1S1676,D2S441,D3S4529,D22S1045,amelogenin）of the established 5 fluorescent labeled miniSTR multiplex amplification systems can be genotyped accurately and clearly.The genetic data of the 5 loci from Chongqing Han population can be used as basis materials for the study of population genetics and forensic appliance.