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醛固酮合酶和Y染色体基因多态性与原发性高血压的相关性 被引量:3

Correlativity between the polymorphisms of aldosterone synthase gene, HindⅢ restriction site on Y chromosome and essential hypertension
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摘要 目的探讨醛固酮合酶基因CYP11B2-344C/T、Y染色体HindⅢ酶切位点多态性与原发性高血压的关系。方法对原发性高血压患者654例,正常人386名提取白细胞DNA,聚合酶链反应结合限制性内切酶(HaeⅢ、HindⅢ)方法检测醛因酮合酶和Y染色体基因多态性。结果HindⅢ多态性各基因型差异有统计学意义(P=0.03),HindⅢ(+)基因型收缩压、舒张压均明显降低(P=0.01,P=0.03)。CYP11B2CC、CT基因型与HindⅢ(-)基因型组合时,发生高血压的危险增加1.998倍(P=0.01)。结论Y染色体HindⅢ酶切位点多态性与原发性高血压相关,CYP11B2-344C/T多态性与Y染色体HindⅢ酶切位点多态性可能具有联合作用。 Objective To investigate the relationship of associating the polymorphisms of CYP11B2 - 344C/T and Hind Ⅲ restriction site on Y chromosome with essential hypertension. Methods This study enrolled 654 patients with essential hypertension and 386 healthy subjects as control group. The genomic DNA was extracted from blood leukocytes. The DNA segments of CYP11B2 and Y chromosome were amplified from genomic DNA by polymerase chain reaction (PCR). The PCR products were digested with Hae Ⅲ or Hind Ⅲ at 37 ℃ respectively. The digested products were subjected to agarose gel electrophornsis and stain with ethidium bromide. Results ( 1 ) The Hind Ⅲ ( - ) genotype was found at 42.0% for patients with essential hypertension and 32.9% for control. The Hind Ⅲ ( - ) genotype frequency of hypertension patient was significantly higher than that of the control ( P = 0.03). The Hind Ⅲ ( + ) genotyp had a lower SBP and DBP than the Hind Ⅲ ( - ) genotype ( P = 0.01, P = 0.03). (2) With combining CC or cr genotype with Hind Ⅲ ( - ) genotype,the relative risk suffering from hypertension was 1.998 fold high ( P = 0.01). Conclusion The polymorphism of Hind Ⅲ restriction site on Y chromosome is associated with essential hypertension, and when combined with polymorphism of CYP11B2 - 344C/T, may have a united role to increase the risk of suffering from hypertension disease.
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2006年第3期294-297,共4页 Chinese Journal of Medical Genetics
关键词 原发性高血压 遗传多态性 醛固酮合酶 Y染色体 essential hypertension genetic polymorphism aldosterone synthase Y chromosome
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参考文献9

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