关键词: 高血压；家系；血管紧张素转换酶；醛固酮合成酶；单核苷酸多态性

Abstract:

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. MethodsA 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. ResultsThe DD genotype and D allele frequencies of the ACE gene in the first and second generation of the hypertension pedigree group were higher than those in the nomortension pedigree group. There were significant differences between the two groups(P＜0.05). There were significant differences in the TT genotype of the CYP11B2 gene between the hypertension pedigree group and the nomortension pedigree group(P＜0.05), also there were significant differences in the TT genotype between every generation respectively in the two groups(P＜0.05), and there were significant differences in T allele frequencies between every generation respectively in the two groups(P＜0.05). The TT genotype and T allele frequencies of the CYP11B2 gene in the hypertension pedigree group, which had synergistic action with ACE I/D polymorphism, werehigher than those in the nomortension  pedigree group (P＜0.05). ConclusionThere are significant differences in distribution of Dallele frequency of the ACE gene and Tallele frequency of the CYP11B2 gene between primary hypertension pedigrees and normotension pedigrees. There may be synergistic action between D and T alleles in pedigreed primary hypertension.

Key words: Hypertension; Pedigree; Angiotensinconverting enzyme; Aldosterone synthase; Single nucleotide polymorphism