典型AD型高血压家系的临床及遗传学特征分析

The genetic and clinic analysis of associated with essential hypertension in the AD pedigrees

目的通过对1个33人的原发性高血压家系进行临床、遗传和分子特征分析,探讨高血压发生的遗传特征以及ACE基因在遗传原发性高血压发生发展中的作用。方法 PCR扩增10例原发性高血压患者和8例正常对照者的ACE等4个基因,进行家系及基因变异相关分析。结果发现10例患者全部为ACE第16内含子插入287 bp携带者。结论 ACE(D/I)携带者的原发性高血压家系常染色体显性遗传特征明显,ACE基因的改变可能是这个原发性高血压家系发病的主要分子基础。

Objective：To analyze and evaluate the clinical,genetic and molecular characteristics of in 33 Chinese people pedigrees with essential hypertension and explore the role of ACE in the development of those inherited essential hypertension. Methods：ACE gene of 10 Chinese Han essential hypertension subjects and 8 control subjects were amplified with PCR. Results：We found all 10 patients for carriers with 287 bp into the 16 th intron of ACE among the pedigree. The essential hypertension subjects were found with ACE mutation in hypertension. Conclusion：Primary hypertension pedigree is autosomal dominant characteristic. The occurrence of the ACE mutation affected in the hypertension pedigrees which indicate that this form is associated with essential hypertension.