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目的:探讨同型半胱氨酸水平及其代谢酶甲硫氨酸合酶A2756G基因多态性与新疆哈萨克族原发性高血压的关系。方法:高血压患者201例(高血压组),血压正常者220例(对照组),应用PCR反应-限制性片断长度多态性检测甲硫氨酸合酶A2756G的基因型;采用酶标免疫吸附检测法检测血浆同型半胱氨酸水平。结果:高血压组血浆同型半胱氨酸水平高于对照组(P<0.01)。2组男性血浆同型半胱氨酸水平均高于同组女性(P<0.05)。2组甲硫氨酸合酶A2756G多态位点的基因型和等位基因频率分布比较差异无统计学意义(P>0.05);甲硫氨酸合酶A2756G 3种基因型的血浆同型半胱氨酸水平比较差异无统计学意义(P>0.05)。Logistic回归分析结果显示,甲硫氨酸合酶基因A2756G位点多态性、血浆同型半胱氨酸水平非新疆哈萨克族高血压发病的独立危险因素。结论:甲硫氨酸合酶基因A2756G点突变可能不是影响血浆同型半胱氨酸水平的重要遗传因素。
Objective: To investigate the relationship between the homocysteine level and the methionine synthase gene A2756G polymorphism and essential hypertension in Kazakstan in Xinjiang Uygur Autonomous Region. Methods: The genotypes of methionine synthase A2756G were detected by PCR-restriction fragment length polymorphism (PCR-RFLP) in 201 patients with hypertension (hypertension group) and 220 patients with normal blood pressure (control group) Adsorption assay to detect plasma homocysteine levels. Results: Plasma homocysteine level in hypertension group was higher than that in control group (P <0.01). Plasma homocysteine levels in both groups were higher than those in the same group (P <0.05). There was no significant difference in the genotype and allele frequency distribution between methionine synthase A2756G polymorphism loci in the two groups (P> 0.05); the plasma homocysteine level of methionine synthase A2756G genotype There was no significant difference in the level of serum ammonia (P> 0.05). Logistic regression analysis showed that methionine synthase gene A2756G polymorphism and plasma homocysteine levels were not independent risk factors for the onset of hypertension in Xinjiang Kazak. Conclusion: The point mutation of methionine synthase gene A2756G may not be an important genetic factor affecting plasma homocysteine level.