女性胆固醇侧链裂解酶基因中(tttta)n多态性
Genetic polymorphism of CYP11α(tttta)n allele in Chinese women
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摘要:目的 研究中国女性胆固醇侧链裂解酶基因(CYP11α)启动子中(tttta)n的遗传多态性分布以及与体重指数和腰臀比之间的关系, 比较分析其发生频率与高加索人发生频率的差异。方法 测量中国女性的体重、身高、腰围和臀围, 并采用Chelex-100法从血标本中提取总DNA。特异引物聚合酶链反应(PCR扩增), 经6%变性聚丙烯酰胺凝胶电泳分离, 银染检测。结果 被调查女性CYP11α启动子中(tttta)n多态性有6条等位基因片段, 即(tttta)4, (ttt-ta)6, (tttta)7, (tttta)8, (tttta)9, (tttta)10, 频率分别是0.207, 0.667, 0.003, 0.105, 0.001, 0.006。与高加索女性CYP11α启动子中(tttta)n等位基因频率比较, 差异有统计学意义, P < 0.05;被调查女性各基因型之间的体质指数和腰臀比无统计学差异。结论 CYP11α启动子中的(tttta)n多态性对被调查女性的体质指数和腰臀比没有影响。Abstract:Objective To investigate(tttta)n microsatellite polymorphism in the promoter of CYP11a gene encoding cholesterol side chain cleavage enzyme(Cytochr ome P450scc)in Chinese women and the association between the polymorphism and Body mass index(BMI)and Waist to hip ratio(WHR).Methods BMI and WHR were determined.Blood samples were obtained for DNA analysis.(tttta)n allele were established from the total DNA using locu-sspecific prime PCR, followed by electrophoresis of PCR products in denaturing polyacryamide gels and subsequent detection by silver staining.Results Six allele fragments were found.The allele distribution of CYP11a was as follows: (tttta)4, 0.207;(tttta)6, 0.667;(tttta) 7, 0.003, (tttta)8, 0.105;(tttta)9, 0.01;(tttta)10, 0.006.The allele distribution of CYP11a was statistically different between Chinese women and Caucasian women.No differences were observed in BMI and WHR among different genotype individuals.Conclusion The frequency distribution of the CYP11A(tttta)n Allele is different between Chinese and Caucasian women.The(tttta)n polymorphism does not affect BMI and WHR of Chinese women.
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