芳香化酶基因中相连多态性位点的频率分布
Genetic polymorphism of CYP19 Δ3(TTTA)n allele in Chinese women
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摘要:目的 研究中国女性芳香化酶(CYP19)中两个相连多态性位点Δ3(TTTA)n的遗传多态性, 比较分析与日本和高加索人发生频率的差异以及与乳腺癌发病率的关系。方法 采用Chelex-100法从血标本中提取DNA。特异引物聚合酶链反应, 经6%变性聚丙烯酰胺凝胶电泳分离, 银染检测。结果 (TTTA) 11的频率显著高于日本人(P < 0.01);(TTTA)8的频率高于日本, 而低于高加索妇女; (TTTA)7的频率变化情况与(TTTA)8正好相反, 为低于日本而高于高加索妇女(P < 0.01);Δ3(TTTA)7的频率显著低于高加索妇女(P < 0.05)。中国女性Δ3(TTTA)n重复片断数≤10的频率为45.45%, 高于高加索(41.6%)和日本女性(30.8%)。结论 中国女性CYP19基因的中两个相连多态性位点的频率分布, 明显不同于日本和高加索人, 存在自身特点。Δ3(TTTA)n重复片断数≤10的频率可能与乳腺癌发病率无相关性。Abstract:Objective To understand the genetic polymorphism of the CYP 19 Δ3(TTTA)n Allele.Methods Total DNA was extracted by Chelex-100 from blood samples of 155 unrelated Chinese women.Allele genotype frequencies for the CYP19Δ3(TTTA)n Allele were established from the total DNA using locus-specific prime PCR, Followed by electrophoresis of PCR products in denaturing polyacryamide gels and subsequent detection by silver staining.Results Alleles with 11 repeats in Chinese women were more frequent than that in Japanese women.(TTTA)8 Alleles in Chinese women were more frequent than that in Japanese women and less frequent than that in Caucasian women.(TTTA)7 Alleles in Japanese women were more frequent than that in Chinese women; And(TTTA)7 Alleles in Chinese women were more frequent than that in Caucasian women.Δ3(TTT A)7 Alleles in Caucasian women were more frequent than that in Chinese and Japanese women.(TTTA)(n≥10)Alleles in Caucasian women were more frequent than that in Chinese and Japanese women.Conclusion The frequencies distribution of the CYP 19Δ3(TTTA)n Allele are different among Chinese, Japanese and Caucasian women.There maybe no relationships between(TTTA)(n≥10)Alleles frequency and breast cancer risk.
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