湖南汉族人群21个STR基因座的遗传多态性(英文)  

Genetic Polymorphisms of 21 STR Loci in Hunan Province-based Han Population

作　　者：邹鹰[1] 郭娟娟[1] 李情鹏 左道宏 刘金山[3] 郭亚东[1] 闫杰[1] 扎拉嘎白乙拉 蔡继峰[1] 兰玲梅[1] 

机构地区：[1]中南大学基础医学院法医学系,湖南长沙410013 [2]中南大学湘雅医学院,湖南长沙410013 [3]内蒙古民族大学附属医院内科,内蒙古通辽028000

出　　处：《法医学杂志》2016年第5期356-362,共7页Journal of Forensic Medicine

基　　金：supported by the Natural Science Foundation for the Youth(No.81302621);Funds for the Central Universities of Central South University(2015zzts276)

摘　　要：目的调查湖南地区汉族人群21个STR基因座（D3S1358、D13S317、D7S820、D16S539、Penta E、D2S441、TPOX、TH01、D2S1338、CSF1PO、Penta D、D10S1248、D19S433、v WA、D21S11、D18S51、D6S1043、D8S1179、D5S818、D12S391和FGA）的遗传多态性。方法共采集560例湖南汉族健康无关个体血液样本,使用Chelex-100法提取DNA,应用AGCU EX22试剂盒及9700 PCR扩增仪进行复合扩增,扩增产物使用310遗传分析仪进行分离分析。结果共发现248个等位基因,等位基因频率分布在0.001~0.518。除Penta E（P=0.023）外,其余基因座的基因型分布均符合Hardy-Weinberg平衡。21个基因座的累积个人识别率、累积非父排除率、累积匹配率分别为0.999 999 999 999 999 999 999 999 8、0.999 999 998和1.36×10^-25。结论 21个STR基因座在湖南汉族人群中呈高度多态性。本研究可为法医学个人识别及亲子鉴定提供有价值的数据及理论基础。Objective To investigate the genetic polymorphisms of 21 short tandem repeat（STR） loci（D3S1358, D13S317, D7S820, D16S539, Penta E, D2S441, TPOX, TH01, D2S1338, CSF1 PO, Penta D,D10S1248, D19S433, v WA, D21S11, D18S51, D6S1043, D8S1179, D5S818, D12S391 and FGA）. Methods A total of 560 blood samples were collected from unrelated healthy individuals of Han population in Hunan Province. Chelex-100 extraction method was applied to the extraction of genomic DNA, and an AGCU EX22 Kit and 9700 STR amplification was used in amplification reactions. The products were separated and analyzed on 310 Genetic Analyzer. Results A total of 248 alleles were observed, the allelic frequencies ranging from 0.001 to 0.518. Observation of genotype distributions for each locus showed no deviations from Hardy-Weinberg equilibrium except Penta E（P=0.023）. The combined power of discrimination, combined power of exclusion, and combined matching probability of the 21 STR loci were approximately 0.999 999 999 999 999 999 999 999 8, 0.999 999 998, and 1.36×10^-25, respectively.Conclusion The 21 STR loci show high polymorphisms in the Han population, which can provide valuable data and a theoretical basis for forensic individual identification and paternity testing.

关 键 词：法医遗传学 多态现象 遗传 短串联重复序列 湖南 汉族 

分 类 号：R394[医药卫生—医学遗传学]