我国3个民族13个SNPs位点多态性及其遗传学关系的比较.pdfVIP

HEREDITAS (Beijing) 2009 3 , 31(3): 273―279 ISSN 0253-9772 研究报告 DOI: 10.3724/SP.J.1005.2009.00273 我国3 个民族13 个SNPs 位点多态性及遗传学关系的 比较 1, 2 1 1 王瑞恒 , 刘利民 , 赵金玲 1. , 110001; 2. , 116029 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。 荧光标记复合扩增; 单核苷酸多态性; 遗传学关系 A comparative study on genetic polymorphism and genetic relationship of 13 SNPs in three Chinese populations WANG Rui-Heng1, 2, LIU Li-Min 1, ZHAO Jin-Ling1 1. Forensic Medical College of China Medical University, Shenyang 110001, China; 2. Law School of Liaoning Normal University, Dalian 116029, China 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 freq