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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 investigate the genetic characteristics of hypertension and the role of ACE gene in the development of hereditary essential hypertension by analyzing the clinical, genetic and molecular characteristics of a 33-patient hypertensive pedigree. Methods Four genes of ACE, including 10 essential hypertensive patients and 8 normal controls, were amplified by polymerase chain reaction (PCR). Family members and genetic variations were analyzed. All of the 10 patients were found to insert a 287 bp carrier for the ACE intron 16. Conclusion The autosomal dominant inheritance characteristics of ACE family in ACE (D / I) carriers are obvious. The change of ACE gene may be the main molecular basis of the incidence of this family with hypertension.