遗传 ›› 2009, Vol. 31 ›› Issue (3): 273-279.doi: 10.3724/SP.J.1005.2009.00273

• 研究报告 • 上一篇    下一篇

我国3个民族13个SNPs位点多态性及遗传学关系的比较

王瑞恒1, 2;刘利民1;赵金玲1
  

  1. 1. 中国医科大学法医学院, 沈阳 110001;
    2. 辽宁师范大学法学院, 大连 116029
  • 收稿日期:2008-08-08 修回日期:2008-10-16 出版日期:2009-03-10 发布日期:2009-03-10
  • 通讯作者: 刘利民

A comparative study on genetic polymorphism and genetic relationship of 13 SNPs in three Chinese populations

WANG Rui-Heng1, 2;LIU Li-Min1;ZHAO Jin-Ling1   

  1. 1. Forensic Medical College of China Medical University, Shenyang 110001, China;
    2. Law School of Liaoning Normal University, Dalian 116029, China
  • Received:2008-08-08 Revised:2008-10-16 Online:2009-03-10 Published:2009-03-10
  • Contact: WANG Rui-heng

摘要: 采用荧光标记复合扩增毛细管电泳技术, 基于等位基因特异性PCR原理, 通过正交实验法建立了荧光标记复合扩增片段长度差异等位基因特异性SNPs分型体系, 该体系可以根据产物长度和产物峰的数量一次完成13个SNPs分型, 纯合子为单一产物峰, 杂合子为长度相差4 bp的两个产物峰。采用该体系对我国辽宁地区汉族、内蒙古地区蒙古族和广西地区壮族3个民族13个SNPs位点多态性进行群体调查, 获得了3个民族13个SNPs等位基因分布频率, 比较了3个民族等位基因的差异, 并对其遗传学关系进行了研究。结果显示: 3个民族13个SNPs的等位基因分布具有多态性, 多个SNPs等位基因分布具有显著性差异(P≤0.01), 抽样调查结果符合Hardy-Weinberg平衡; 辽南地区汉族人群与内蒙古蒙古族人群的亲缘关系更为接近, 与广西壮族之间的亲缘关系相对较远。

关键词: 单核苷酸多态性, 荧光标记复合扩增, 遗传学关系

Abstract: Using the fluorescence labeled capillary electrophoresis of multi-PCR technique, the single nucleotide poly-morphism (SNP) typing system of fragment length discrepant allele specific fluorescence labeled multi-PCR technique is established based on the principle of allele-specific PCR. The typing of the 13 SNP loci can be completed simultaneously according to the length of PCR products and the number of product peaks. It appears a single product peak when the SNP is homozygous, and two product peaks with 4 bp differences will appear when it is heterozygous. By using this system, we conducted population census about allele frequencies for 13 autosomal SNP loci in Southern Liaoning Han samples, Mon-golian samples in Inner Mongolia and Zhuang samples in Guangxi area, and got the allele frequencies of the 13 SNP loci in the three populations, then preliminarily discussed their genetic relationship by comparing their differences in allelic poly-morphism. The results indicate that the allelic distributions of the 13 SNP loci in the three populations are polymorphic, and the difference is significant in some SNP loci (P≤0.01). The sampling survey shows that the result is consistent with Hardy-Weinberg equilibrium, and Han population in southern Liaoning has relatively closer relationship with Mongolian in Inner Mongolia than with Zhuang population in Guangxi by origin.