原发性高血压家系与血压正常家系ACE基因I/D突变及CYP11B2基因单核苷酸多态性的相关性研究

目的探讨原发性高血压家系与血压正常家系血管紧张素转换酶（ACE）基因插入/缺失位点及醛固酮合成酶（CYP11B2）基因C( 344)T位点单核苷酸多态性的关系。方法以家系为基础进行高血压家系-血压正常家系对照研究。高血压家系组：高血压家系62个，229例受试者；正常血压家系组：正常血压家系61个，221例受试者。采用PCR技术，分析ACE基因多态性；采用PCR RELP技术，分析CYP11B2基因多态性。基因型和等位基因频率用基因计数法。结果与正常家系组比较，高血压家系组第一、二代及三代受试者全体ACE基因DD基因型与D等位基因频率升高（P＜0.05），高血压家系组各代及三代受试者全体CYP11B2基因TT基因型及T等位基因发生频率明显多于正常血压家系（P＜0.05）。与ACE基因I/D多态性协同作用中，高血压家系组的CYP11B2基因TT基因型及T等位基因发生频率明显多于正常血压家系（P＜0.05）。结论家族性原发性高血压与ACE基因I/D多态性及CYP11B2基因T（-344）C多态性之间具有相关性。D及T等位基因频率增高是原发性高血压患者家族中ACE基因I/D多态性及CYP11B2基因T（-344）C多态性的分布特点。D及T等位基因可能在家族性原发性高血压遗传中起协同作用。

Association between polymorphism of the angiotensin-converting enzyme gene and the aldosterone synthase gene in pedigreed primary hypertension

Objective To investigate the relationship between the angiotensin-converting enzyme(ACE) insertion(I)/deletion(D) mutation and the aldosterone synthase(CYP11B2) gene C(-344)T single nucleotide polymorphism(SNP) in pedigreed primary hypertension and pedigreed nomortension.Methods A pedigree based case-control study was conducted using PCR and PCR-RELP techniques to explore the relationship between ACE I/D mutation and CYP11B2 C(-344)T SNP and primary hypertension in 123 pedigrees,450 subjects.Results The DD ...