中国南方汉族群体27个Y-STR基因座的遗传多态性及突变研究

发布时间：2017-12-27 22:01

本文关键词：中国南方汉族群体27个Y-STR基因座的遗传多态性及突变研究　出处：《中山大学学报(医学科学版)》2015年05期 　论文类型：期刊论文

【摘要】：【目的】调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况。【方法】采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler汶Plus扩增体系对样本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况。【结果】885名无关男性个体中共观察到880种单倍型,其中875种单倍型为唯一单倍型,5种单倍型分别出现两次。单倍型多样性(HD)为0.999 987 2,系统识别能力(DC)为0.994 350 3。27个Y-STR基因座基因多态性(GD)在0.434 4(DYS438)~0.960 5(DYS385a/b)之间。在911个父子对共246 23次等位基因传递中共观察到113次突变事件,其中108次突变事件为一步突变,5次突变事件为二步突变。11个父子对观察到2个基因座同时突变,1个父子对发生3个基因座同时突变。平均突变率为4.6×10-3(95%CI:3.8×10-3~5.5×10-3)。【结论】Yfiler汶Plus体系包含的27个Y-STR基因座在中国南方汉族群体中具有高度遗传多态性,对于法医学实践中个体识别、父系亲缘关系鉴定等具有重要意义。
[Abstract]:[Objective] to investigate the genetic polymorphism and mutation of 27 Y-STR loci in the Han population of southern China. [method] collected from 885 unrelated male individuals of Han nationality in southern China blood samples and blood samples using 911 pairs of father and son, Wen Yfiler Plus amplification system amplification of the sample, and capillary electrophoresis detection and classification, genetic polymorphism related statistical parameters, observation of Y-STR locus mutation. [results] 880 haplotypes were observed in 885 unrelated male individuals, of which 875 haplotypes were the only haplotypes, and 5 haplotypes were two times respectively. The haplotype diversity (HD) was 0.9999872 and the system recognition ability (DC) was 0.9943503. The 27 Y-STR gene polymorphisms (GD) were between 0.4344 (DYS438) ~0.960 5 (DYS385a/b). 113 times of mutation events were observed in 24623 alleles of 911 father son pairs, of which 108 mutations were one step mutation, and 5 mutation events were two step mutations. At the same time, 2 gene pedestal mutations were observed by 11 male and female parents, and 1 parents were simultaneously mutated by 3 loci. The average mutation rate was 4.6 x 10-3 (95%CI:3.8 x 10-3~5.5 x 10-3). [Conclusion] the 27 Y-STR loci contained in Yfiler Wen Plus system are highly polymorphic in Han population of southern China, which is significant for individual identification and paternity identification in forensic practice.
【作者单位】：中山大学中山医学院法医学系;
【基金】：国家自然科学基金面上项目(81273347)
【分类号】：R394
【正文快照】： [J SUN Yat-sen Univ(Med Sci),2015,36(5):650-656]Y-STR具有男性特异、父系遗传等特点,在父子传递过程中不发生重组,为单倍型遗传,在法医检验实践中具有重要的应用价值,例如性犯罪案件中混合斑男性成分的个体识别、父系亲缘关系案件等[1]。为了达到更高的系统识别能力,近年

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