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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。
Aims: To investigate whether there is variation in the human atrial natriuretic peptide (hANP) gene C-664G in Xinjiang Kazak population and its association with Essential Hypertension (EH) in Xinjiang Kazak. Methods: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (PCR-RFLP) were used to detect the leucocyte DNA in 260 EH patients (EH group) and 169 normal blood pressure patients (normal blood pressure group) The C-664G polymorphism of hANP gene was detected to observe the distribution of different genotypes of CC, GG and CG as well as the frequencies of C and G alleles in EH group and normotensive group. Results: ① The frequencies of genotypes CC, CG and GG were 0.99,0.01 and 0 in EH group, but there was no significant difference in the normal blood pressure group between 0 · 99,0 · 01 and 0 and 2 groups ( P> 0.05). The frequencies of C and G alleles were 0.99,0.01 in EH group and 0.997 and 0.003 in normal blood pressure group, respectively, there was no significant difference between two groups Significance (P> 0.05). (2) The genotypes of CG in both groups were found to be distributed in women. The frequency of CG genotype (0. 02) and G allele (0.01) in EH group were higher than those in normotensive group 01) and G allele (0 · 005), but there was no significant difference between the two groups (P> 0.05). Conclusion: ①HANP gene C-664G exists in Xinjiang Kazak population variation, this variation has no correlation with Xinjiang Kazakh EH; ②hANP gene C-664G mutation in Xinjiang Kazakh population may have a gender difference trend.