3q27片段9个单核苷酸多态性位点的人群分布特点.docVIP

3q27 片段 9 个单核苷酸多态性位点的人群 分布特点# 5 10 15 20 25 30 35 40  摘要：目的：检测染色体 3q27 片段上 9 个单核苷酸多态性（SNPs）的基因型及等位基因分 布频率，并比较其在不同种族间分布差异。方法：采用连接酶检测反应技术对 528 名河南新 安汉族人群进行 SNP 分型，检索 NCBI 的 SNP 数据库获得 Hapmap 计划中四个种族的位点 信息，并进行比较。结果：各位点在男女性别均满足 Hardy-Weinberg 平衡，即所选人群具 有代表性，各位点数据与 Hapmap 中汉族（HCB）之间均无统计学差异。rs6445137 位点的 基因型、等位基因在各种族间均无统计学差异（基因型比较：χ2=1.991，P=0.919；等位基 因比较：χ2=0.232，P=0.972），其余各位点的基因型和/或等位基因频率在不同种族存在统 计学差异（P0.001）。结论：3q27 处 9 个 SNPs 基因型与等位基因频率的描述为今后进一 步研究该位点基因多态性与糖尿病、肥胖等慢性非传染性疾病的关联提供理论依据。 关键词：单核苷酸多态性；3q27；慢性非传染性疾病；种族差异 中图分类号：R181.2 The character of 9 single nucleotide polymorphism loci on chromosome 3q27 Fu Xiaoli1, Liu Li2, Ping Zhiguang1, Li Linlin1 (1. College of Public Health, Zhengzhou University; 2. Basic Medical College, Zhengzhou University) Abstract: Objective: To detect the frequencies of genotypes and alleles distribution of 9 single nucleotide polymorphisms (SNPs) on chromosome 3q27 fragment and compare the distributions of SNPs among different races. Methods: Ligase detection reaction (LDR) was used to detect the SNPs genotypes of 528 Han population in Henan Xinan. Moreover, the genetic information was compared among this population and four other populations from Hapmap plan of NCBI SNP database. Result: The allele distributions of all loci were good agreement with the Hardy-Weinberg equilibrium in different genders, which suggested that the sample population was representative. There was not significant difference between the population of this study and Han Chinese (HCB) in Hapmap. The different ethnic populations had different distribution frequencies of genotypes and alleles on these genetic locus (P0.001) except rs6445137 locus (genotypes comparison: χ2= 1.991, P=0.919; alleles comparison: χ2=0.232, P=0.972). Conclusion: The frequencies description of genotype and allele of 9 SNPs at 3q27 provided a theoretical basis for the further study of association between the gene polymorphism with diabetes, obesity and other chronic non-communicable diseases.