新疆哈萨克族隔离群醛固酮合成酶基因多态性与原发性高血压的关联性  

Association of the T(-344)C polymorphism of aldosterone synthase gene CYP11B_2 with essential hypertension in Xinjiang Kazakh isolated group

作　　者：徐新娟[1] 汪师贞[1] 林仁勇[2] 王笑峰[2] 梁晓慧[1] 温浩[2] 张朝霞[2] 

机构地区：[1]新疆医科大学附一院高血压科,乌鲁木齐830054 [2]新疆医科大学附一院临检中心,乌鲁木齐830054

出　　处：《中华医学遗传学杂志》2004年第6期622-624,共3页Chinese Journal of Medical Genetics

摘　　要：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 of the T(-344)C polymorphism of aldosterone synthase gene CYP11B 2 with essential hypertension in Xinjiang Kazakh isolated population. Methods The study covered 186 hypertensives and 168 normotensive controls in Xinjiang Kazakh population. The segment of CYP11B 2 was amplified from DNA by polymerase chain reaction(PCR). The PCR products were digested by restriction endonuclease. Results The frequencies of C and T in hypertensive group(0.45 and 0.55) were not significantly different from those in the control group(0.43 and 0.57;χ 2=0.380, P =0.537) .The frequencies of CYP11B 2 genotypes of CC,CT and TT were 0.20,0 50 and 0.30 in hypertensives respectively, and 0.12,0.61 and 0.27 in controls respectively. There was no significant difference in genotypes between hypertensive group and normotensive group(χ 2=4.838, P =0 089). But the frequencies of CC genotype were higher in the female hypertensives than in the normotensive controls (χ 2=6.104, P <0.05). Conclusion The results suggested that the T(-344)C polymorphism of CYP11B 2 gene may be associated with hypertension in female Kazakh population of Xinjiang Barlikun area.

关 键 词：CYP11B2 正常人群 醛固酮合成酶 原发性高血压 多态性 酶基因 新疆哈萨克族 分布频率 限制性内切酶 等位基因 

分 类 号：R544.1[医药卫生—心血管疾病] R711.75[医药卫生—内科学]