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目的研究血管紧张素转换酶2(angiotensinⅠconverting enzyme2,ACE2)基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与华北地区汉族人原发性高血压的相关性。方法对ACE2基因的启动子区、5′非编码区、外显子及邻近内含子和3′非编码区设计引物进行分段扩增,采用直接测序法获得ACE2基因的SNP,并对所发现的SNP在高血压和正常血压人群中进行病例对照研究,推测ACE2基因在原发性高血压发病中的作用。结果共检出1个G8790A,位于第3内含子,为G/A多态,基因型分析示高血压组和对照组G与A基因型的分布差异无统计学意义,但在高血压伴心功能不全的患者中A基因型明显升高,与对照组相比差异有统计学意义(P<0.05)。结论ACE2基因多态性与华北汉族人原发性高血压合并心功能不全者可能具有一定相关性。
Objective To investigate the association of angiotensin Ⅰconverting enzyme 2 (ACE2) gene single nucleotide polymorphisms (SNP) with essential hypertension in Han nationality of North China. Methods The promoter region of ACE2 gene, 5 ’non-coding region, exon and its adjacent introns and 3’ non-coding region were designed to amplify the primers. The SNP of ACE2 gene was obtained by direct sequencing. The SNPs were found in patients with hypertension and normotensive patients in case-control study, speculated that ACE2 gene in the pathogenesis of essential hypertension. Results A total of 1 G8790A was found in intron 3, which was a G / A polymorphism. Genotype analysis showed no significant difference in the distribution of G and A genotypes between hypertension group and control group. However, A genotype was significantly higher in patients with cardiac insufficiency, compared with the control group, the difference was statistically significant (P <0.05). Conclusion ACE2 gene polymorphism may be related to essential hypertension in North Han Chinese patients with cardiac dysfunction.