微测序技术检测武汉汉族群体26个Y-SNPs的遗传多态性  

Typing of 26 Y-SNPs in Wuhan Han Population by Using SNaPshot Minisequencing

作　　者：黄代新[1] 种书亚[1] 易少华[1] 杨荣芝[1] 梅焜[1] 

机构地区：[1]华中科技大学同济医学院法医学系,武汉430030

出　　处：《华中科技大学学报（医学版）》2011年第1期64-70,共7页Acta Medicinae Universitatis Scientiae et Technologiae Huazhong

摘　　要：目的研究汉族群体26个Y-SNPs的遗传多态性,探讨其在法医学和人类进化研究中的应用价值。方法自行设计引物并构建用于检测26个Y-SNPs的3个SNaPshot复合分型检测体系,然后用构建的复合分型检测体系对120名武汉汉族男性无关个体进行分型。结果成功构建了用于检测26个Y-SNPs的3组荧光复合扩增检测体系,每一复合体系中,同一位点的2个不同等位基因显示为不同颜色的产物峰,不同位点的等位基因之间片段大小不同。所有26个Y-SNPs在武汉汉族群体中均具有遗传多态性,120名武汉汉族男性个体中共检出26种单倍型,其频率范围为0.008 3～0.125 0,单倍型多样性为0.934 9。结论所构建的26个Y-SNPs荧光复合扩增检测体系具有简便、高效、准确的特点,在法医学应用和群体进化研究中具有一定实用价值,可作为Y-STRs标记的有效补充。Objective To investigate the genetic polymorphisms of 26 Y chromosome single nucleotide polymorphisms（SNPs）and evaluate their applied value in forensic science and population evolution studies.Methods The primers both for PCR amplification and the minisequencing reaction were designed using Primer 3 software,and the selected 26 Y-SNPs were combined in three multiplex reactions according to their fragment size and interaction.Then,120 unrelated male individuals from Wuhan Han population were genotyped using the established fluorescent-multiplex systems.Results Three fluorescent-multiplex PCR systems for typing 26 Y-SNPs were successfully established,and in the same multiplex extensions,the typing results showed that two different color of product peaks denoted two different alleles of a Y-SNP locus,and the fragment size of alleles among different Y-SNP loci were different.All of 26 Y-SNPs were polymorphic in the Chinese Han population studied.Total 26 haplotypes were observed from 120 male unrelated individuals in Wuhan Han population,and the frequency range was 0.008 3-0.125 0.The haplotype diversity was estimated to be 0.934 9.Conclusion The fluorescent-multiplex PCR systems for typing 26 Y-SNPs developed by this paper is convenient,rapid and robust,and is of high value in forensic application and population evolution studies.They can serve as an effective supplementary of Y-STRs.

关 键 词：Y染色体 单核苷酸多态性 SNaPshot微测序 单倍型 

分 类 号：R895.3[医药卫生—法医学]