新疆哈萨克族心钠素基因C-664G变异与原发性高血压的相关性

Relationship between C-664G polymorphism of human atrial natriuretic peptide gene and essential hypertension in Xinjiang Kazakans

目的:研究人类心钠素(hANP)基因C-664G在新疆哈萨克族人群中是否存在变异,该变异与新疆哈萨克族原发性高血压(EH)的相关性。方法:采用多聚酶链式反应法及限制性内切酶片段长度多态性技术,对新疆哈萨克族260例EH患者(EH组)及169例正常血压者(正常血压组)的外周血白细胞DNA,进行hANP基因C-664G多态性检测,观察CC、GG和CG不同基因型以及该位点C、G不同等位基因频率在EH组和正常血压组中的分布。结果:①CC、CG和GG基因型在EH组的分布频率为0·99、0·01和0,在正常血压组为0·99、0·01和0,2组对比差异无统计学意义(P>0·05);C和G等位基因频率在EH组中分别为0·99、0·01,在正常血压组中分别为0·997和0·003,2组对比差异无统计学意义(P>0·05)。②2组进行性别比较发现,CG型均分布在女性;EH组中女性CG型频率(0·02)和G等位基因频率(0·01)均高于正常血压组女性CG型频率(0·01)和G等位基因频率(0·005),但2组差异无统计学意义(P>0·05)。结论:①hANP基因C-664G在新疆哈萨克族人群中存在着变异,该变异与新疆哈萨克族EH无相关关系;②hANP基因C-664G变异在新疆哈萨克族人群中可能存在性别差异的趋势。

Objective：To investigate the relationship between the C-664G allele polymorphism of human atrial natriuretic peptide （hANP） gene and essential hypertension in Kazakans of Xinjiang. Metbod：Polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP） methods were used to detect the C-664G polymorphism of hANP gene in Kazakans including 260 patients with essential hypertension（EH） and 169 normotensive group（NT）. Result ： ①The genotype frequencies of G-664C were CC 0.99, CG 0.01,GG 0. in EH and were 0.99,0.01,0 in NT respectively. The C -664 and G -664 allele frequencies were 0.99, 0.01 in EH and 0. 997, 0. 003 in NT respectively. The hANP genotype distribution and the allele frequencies of C-664 and G-664 were not statistically significant in EH, compared with NT （ P 〉0.05）. ②The CG genotype frequencies and G-664 allele frequencies in female EH were higher than that in female NT （ P 〉0.05）. Conclusion： ①There was no significant association found between the C-664G polymorphism of hANP gene and essential hypertension in Kazakans of Xinjiang. ②The C-664Gpolymorphism of hANP gene might be associated with gender in Kazakans of Xinjiang.