原发性高血压人群CYPIIB2基因多态性分析

Analysis on polymorphism of CYPIIB2 gene of crowd with essential hypertension in China

摘要:
目的利用原发性高血压家系资料探讨醛固酮合成酶(CYPIIB2)基因多态性在中国某地原发性高血压人群中的分布。
方法 2000年, 在安徽的某2个地区进行大面积原发性高血压的横断面调查。共调查600户, 高血压人群800人。
结果醛固酮合成酶基因(-334T位置)存在3种多态性, 即TT、TC、CC型, 其中C型等位基因的频率为28.2%, T为71.8%。
结论醛固酮合成酶基因(-334T位置)在中国高血压人群中存在-334T→C的点突变, 且在该位置存在3种基因型, 即TT(野生型)、TC(杂合突变型)及CC(纯合突变型)。

Abstract:
Objective To investigate the distribution of the polymorphism of CYPIIB2 gene in essential hypertension (EH)pedigree in China.
Methods The blood pressure of the subjects with essential hypertension in two areas are investigated cross-sectionally since 2000, totally 600 fitable families with EH, and 800 subjects having the hypertension.
Results The 3 kinds of the CYPIIB2 genotypes are classified by the genetic variation, the homozygous mutation CC, the heterozymgous CT, and the mild TT.The frequency of allele C and T account for 28.2% and 71.81%.
Conclusion CYPIIB2 gene(344T)have point mutation in the essential hypertension in China, and three geno types(TT、T C、CC).