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目的 本研究探讨醛固酮合成酶基因 (CYP11B2 )基因T(- 344 )C多态性与原发性高血压之间关系。方法 选取吉林省原发性高血压患者 10 7例 ,其中男 6 4例 ,女 4 3例。正常人 12 7例 ,其中男 73例 ,女 5 4例。排除高血压病及其它器质性疾病。所有研究对象用常规方法提取白细胞DNA。采用多聚酶链反应结合限制性内切酶 (HaeⅢ )方法检测CYP11B2基因T(- 344 )C多态性。结果 共扩增成功 12 2例正常人和 10 1例高血压患者DNA标本。原发性高血压组和正常对照组CYP11B2基因T(- 344 )C多态性基因型TT、CT、CC分布分别为 6、2 8、6 7和 5、5 9、5 8,其中C、T等位基因频率在两组分别为 0 2 0、0 80和 0 2 8、0 72。原发性高血压组TT基因型 ,T等位基因频率显著高于正常对照组 ,CT基因型 ,C等位基因频率显著低于正常对照组 (P <0 0 5 )。结论 本研究提示醛固酮合成酶基因(CYP11B2 )基因T(- 344 )C多态性与中国人原发性高血压有关 ,可能是中国人原发性高血压的一个遗传标志。
Objective To investigate the relationship between polymorphism of T (- 344) C gene of aldosterone synthase gene (CYP11B2) and essential hypertension. Methods A total of 107 patients with essential hypertension in Jilin Province were selected, including 64 males and 43 females. Normal 127 cases, of which 73 males and 54 females. Rule out hypertension and other organic diseases. All subjects used routine methods to extract leukocyte DNA. The T (- 344) C polymorphism of CYP11B2 gene was detected by polymerase chain reaction and restriction endonuclease assay (Hae Ⅲ). Results DNA samples of 12 2 normal subjects and 101 hypertensive patients were successfully amplified. The distributions of TT, CT and CC of CYP11B2 gene T (- 344) C polymorphism in primary hypertension group and normal control group were 6,28,6 7 and 5,5 9,5 8 respectively, among which C, The T allele frequency was 0 2 0,0 80 and 0 2 8,0 72 in both groups, respectively. The frequencies of TT genotypes and T alleles in patients with essential hypertension were significantly higher than those in controls. The frequencies of CT genotype and C allele were significantly lower than those in controls (P <0.05). Conclusion This study suggests that T (- 344) C polymorphism of the aldosterone synthase gene (CYP11B2) gene is associated with essential hypertension in Chinese and may be a genetic marker of Chinese essential hypertension.