中国南方汉族人群DNA错配修复酶hMSH2基因遗传多态性分析  

DNA mismatch repair enzyme hMSH2 genetic polymorphism in southern Chinese Han population *

作　　者：何云[1] 庄志雄[2] 何春华[2] 刘汝青[1] 

机构地区：[1]中山大学公共卫生学院预防医学系,广州510080 [2]深圳市疾病预防控制中心

出　　处：《中华医学遗传学杂志》2003年第3期256-258,共3页Chinese Journal of Medical Genetics

基　　金："973"国家重点基础研究发展计划项目(2 0 0 2 CB51 2 90 4;2 0 0 2 CB51 2 90 3);国家自然科学基金(30 2 0 0 2 30 );广东省自然科学基金(0 2 1 81 6)~~

摘　　要：目的　获取 DNA错配修复酶 h MSH2基因在中国南方汉族人群中的基因型和基因频率等群体遗传学资料。方法　收集 16 3名中国南方汉族人群的基础资料及血液标本 ,抽提血液 DNA,用多重PCR法扩增 h MSH2基因第 6、第 7外显子 ,并进行单链构象多态性分析及 DNA序列分析。结果　检测出h MSH2基因第 7外显子上的 C18、A82、B393种基因突变类型 ,频率分别为 0 .0 184、0 .0 0 31、0 .0 0 31,经检验符合 Hardy- Weinberg平衡 ( P>0 .0 5 ) ;C18型突变杂合度最高 ( 0 .0 36 1)。结论　中国南方汉族人群中h MSH2基因第 7外显子上存在 3种突变型等位基因 ,其中 C18型突变频率最高 。Objective: To study hMSH2 genetic polymorphism in southern Chinese Han population. Methods: The basic materials and blood samples from 163 southern Chinese were collected. The mutations of exon 6 and exon 7 of hMSH2 gene were investigated by PCR-SSCP, followed by DNA sequencing. Results: Fragments of 250 bp including exon 6 and fragments of 323 bp including exon 7 of hMSH2 gene were amplified by multiple PCR. The allele frequencies of C18, A82 and B39 type mutations were 0.0184, 0.0031, 0.0031, respectively. The gene frequencies and gene type frequencies of three polymorphism sites in normal population accorded with Hardy-Weinberg equilibrium (P>0.05). The heterozygosity of C18 type mutation (0.0361) was the highest. Conclusion: There were three polymorphism sites in exon 7 of hMSH2 gene in southern Chinese Han population, among which the genotype frequency of C18 type was the highest, suggesting that C18 type mutation be a useful genetic mark.

关 键 词：中国南方 汉族人群 DNA错配修复酶 HMSH2基因 遗传多态性 基因频率 

分 类 号：R394[医药卫生—医学遗传学]