中国人群醛固酮合成酶基因T-344C位点单核苷酸多态性频率分析  

Distribution of T-344C single nucleotide polymorphism of CYP11B2 gene in normal Chinese population

作　　者：李宏芬[1] 沈志霞[1] 吴寿岭[1] 任燕[1] 王菊惠[1] 周永[1] 李冬青[1] 

机构地区：[1]华北煤炭医学院附属开滦医院检验科,河北唐山063000

出　　处：《中国现代医学杂志》2008年第2期233-235,共3页China Journal of Modern Medicine

摘　　要：目的研究醛固酮合成酶(CYP11B2)基因T-344C单核苷酸多态性(SNP)在中国人群中的分布。方法采用PCR-RFLP法对中国人群进行醛固酮合成酶(CYP11B2)基因T-344CSNP频率分析比较。结果中国人群的醛固酮合成酶(CYP11B2)基因T-344C基因型频率分布:TT型占64.5%,TC型占30.8%,CC型占4.7%;等位基因频率T占79.9%,C占20.1%。各基因型频率、等位基因频率与西班牙人、德国人、苏格兰人、日本人差异非常显著。结论醛固酮合成酶(CYP11B2)基因T-344CSNP频率的分布有明显的种族差异。[Objective ] To observe the distribution of T-344C SNP （single nucleotide polymorphism） of CYP11B2 gene in normal population in China. [Methods] The frequency of T-344C SNP of CYP11B2 genotype was detected by PCR-RFLP in normal Chinese people. [Results] In normal people in China, the frequencies of T-344C SNP of CYP11B2 genotype were Tr 64.5%,TC 30.8%, CC4.7%. The allelic genotype frequency oft was 79.9%, C was 20.1%. The frequencies of the genotypes were significantly different from those of Spanish, German, Scottish, Japanese. [Conclusion] T-344C SNP genotype frequency of CYP11B2 varies among different races and people.

关 键 词：醛固酮合成酶(CYP11B2)基因 聚合酶链反应-限制性片段长度多态性(PCR-RFLP) 单核苷酸多态性(SNP) 

分 类 号：R394-3[医药卫生—医学遗传学]