河北汉族人群醛固酮合成酶基因-344C/T多态性研究

Distribution of aldosterone synthase gene polymorphism in Hebei province in China

目的对中国河北省正常人群CYP11B2基因-344C/T多态性分布特点进行初步研究。方法选取唐山市正常健康体检者,提取白细胞DNA,PCR扩增CYP11B片段,应用限制性内切酶HaeⅢ37℃酶切2h。酶切产物行25g/L琼脂糖凝胶电泳。紫外灯下观察基因型。结果CYP11B2基因-344C/T多态性在河北正常人群中分布是CC16.0%、CT41.7%、TT52.5%,C等位基因为26.8%,男女之间基因型、等位基因频率差异无统计学意义(P=0.544、0.382)。CYP11B2基因-344C/T多态性分布与日本、芬兰、南非、法国、德国、比利时等国正常人群分布存在显著性差异,不同种族之间差异有统计学意义(P<0.004)。结论不同种族、不同地区正常人群CYP11B2基因-344C/T多态性分布存在明显差异。

Objective To investigate the distribution of aldosterone synthase（CYP11B2） gene -344C/T polymorphism in Hebei province in China. Methods 252 healthy people were enrolled into this study. 235 people were successfully examined among them. DNA was extracted from white blood cell from each subject. Segments of CYP11B2 were amplified from DNA by polymerase chain reaction （PCR）. PCR products were restricted with 5 U of HaeⅢ for 2h at 37℃. The digested products were subjected to electrophoresis in 25g/L agarose gels, and stained with ethidium bromide. Results （1） Distribution of CYP11B2 344C/T genotype was CC16.0%,CT41.7% ,TT52.5%;and allele frequencies was C26.8%. Distribution of male was not significantly different to that of female（P〉0.05）. （2） Distribution of CYP11B2 -344C/T genotype and allele frequencies in Hebei was significantly different from that of other countries（P〈0. 004）. Conclusion Distribution of CYP11B2 -344C/T genotype and allele frequencies in Hebei in China was significantly different to those of other countries （P〈0. 005）. CYP11B2 gene polymorphism was significantly different in different races.