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目的探讨哈萨克族人群醛固酮合成酶基因CYP11B2T(-344)C多态性与原发性高血压的关联性。方法用聚合酶链反应、限制性内切酶方法检测了新疆巴里坤县哈萨克族186例原发性高血压患者和168名正常人群CYP11B2基因T(-344)C多态性。结果哈萨克族正常人群及高血压患者的CYP11B2基因T(-344)C多态CC、CT、TT基因型频率分布分别为0.12、0.61、0.27和0.20、0.50、0.30,C和T等位基因分布频率分别为0.43、0.57和0.45、0.55,符合Hardy-Weinberg平衡。群体相关分析结果表明CYP11B2基因的C及T等位基因分布在高血压病组及正常人群差异无显著性(χ2=0.380,P=0.537);基因型频率之间差异无显著性(χ2=4.838,P=0.089)。然而女性高血压组CC基因型频率较正常人群高(χ2=6.104,P<0.05)。结论CYP11B2基因T(-344)C多态性可能与新疆巴里坤哈萨克族女性高血压有关。
Objective To investigate the association between the aldosterone synthase gene CYP11B2T (-344) C polymorphism and essential hypertension in Kazak ethnic population. Methods T (-344) C polymorphism of CYP11B2 gene was detected in 186 essential hypertension patients and 168 normal subjects in Kazak of Barkam County, Xinjiang by polymerase chain reaction and restriction endonuclease assays. Results The frequency distributions of CYP11B2 gene T (-344) C polymorphism CC, CT, TT genotypes were 0.12,0.61,0.27 and 0.20,0.50,0.30 in Kazak normal population and hypertensive patients respectively. The distribution of C and T alleles The frequencies were 0.43, 0.57 and 0.45, 0.55, respectively, in line with the Hardy-Weinberg equilibrium. The results of population-related analysis showed that there was no significant difference in the distribution of C and T alleles of CYP11B2 between hypertensive patients and normal controls (χ2 = 0.380, P = 0.537). There was no significant difference in genotype frequency between two groups (χ2 = 4.838 , P = 0.089). However, the frequencies of CC genotypes in female hypertension group were higher than those in normal population (χ2 = 6.104, P <0.05). Conclusion The polymorphism of CYP11B2 gene T (-344) C may be related to the Kazak female hypertension in Barkol Kunming.