多巴胺转运体基因多态性与异常体液型乳腺癌的相关性

目的 探讨多巴胺转运体基因(DATl)3'端40 bp VNTR多态性与新疆维吾尔自治区汉族人群异常体液型乳腺癌的相关性.方法 按维吾尔医学将乳腺癌患者分为4种体液型,采用聚合酶链式反应(PCR)和VNTR多态性分析技术对新疆汉族144例乳腺癌患者和104名正常对照组DAT1多态性进行检测,比较各组间等位基因和基因型频率分布的差异.结果 所测人群中,DAT1VNTR多态性表现出7、9-11倍重复的4种等位基因,其中最常见的等位基因为10倍重复的480 bp片段,其基因频率为90.9%;共检出7种基因型,其中最常见的基因型为10/10倍重复,占83.1%.异常黏液质型乳腺癌患者的DAT1 VNTR 10倍重复等位基因和10/10倍重复基因型频率显著高于正常对照组(OR=0.127,95%CI为0.016～0.988,P=0.026;OR=0.134,95%CI为0.018-1.016,P=0.020)和异常胆液质型乳腺癌患者组(OR=0.132,95%CI为0.016～1.075,P=0.049;OR=0.132,95%CI为0.017-1.042,P=0.033).结论 多巴胺转运体基冈(DAT1)3'端40 bp VNTR10倍重复等位基因和10/10倍重复基因型可能增加新疆汉族维吾尔医异常黏液质型乳腺癌的发病风险,可能与异常胆液质型乳腺癌易感件无关.

Association analysis between polymorphism of dopamine transporter variable number tandem repeat and breast cancer with abnormal Hilit

Objective To explore the association between polymorphism of dopamine 1 transporter variable number tandem repeat ( DAT1 VNTR) and breast cancer with abnormal Hilit in Chinese Han population from Xinjiang. Methods The breast caner patients were divided into four body fluids according to Uighur medicine theory. And polymerase chain reaction and VNTR polymorphism technique were employed to detect genotypie and allelie frequencies of a 40 bp VNTR polymorphism situated in 3'untranslated region of DAT1 gene in 144 breast cancer patients with abnormal Hilit and 104 normal control subjects in Han population of Xinjiang province. Results In our sample, the repeat numbers of 40 bp were 7 and 9-11 (PCR product length of 360 bp and 440 bp to 520 bp) and 10-repeat allele (480 bp) detected was the dominant allele of DAT1 gene polymorphisms with an allelic frequency of 90. 9% ; Seven kinds of genotype were detected and genotype 10/10 was the most common genotype with a genotypic frequency of 83. 1%. The frequency of 10-repeats allele and 10/10 genotype was significantly higher in breast caner patients with abnormal balgham Hilit than in controls (OR =0. 127, 95% CI 0.016 -0.988, P =0.026;OR=0. 134, 95% CI 0.018 -1.016, P =0.020) and breast caner patients with abnormal Sapra Hilit (OR =0. 132, 95% CI 0.016 - 1.075, P =0.049; OR =0. 132, 95% CI 0.017 - 1.042, P =0.033).Conclusion The 10-repeats allele and 10/10 genotype of 40 bp VNTR polymorphism of DAT1 may increase the risk of breast cancer with Uighur medicine abnormal Hilit in Chinese Han population from Xinjiang province and it is not correlated with the susceptibihty to breast cancer with Uighur medicine abnormal Sapra Hilit.