【摘要】 目的:检测蒙古族女性ERα基因PvuⅡ酶切位点的基因多态性,并分析其分布特征,以期为今后进一步研究不同种族、民族女性ERα基因多态性与骨质疏松、乳腺癌等关系的研究提供依据.方法:运用聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP)方法检测271例蒙古族女性雌激素受体α(ERα)基因PvuⅡ酶切多态性,并与其他种族的研究结果进行比较.结果:蒙古族女性ERα基因PvuⅡ酶切位点存在多态性,基因型有PP、Pp、pp三种,其分布频率依次为12.2%、41.5%、46.3%.P和p等位基因分布频率分别为36.9%、67.1%;与其他研究结果比较发现,蒙古族女性ERα基因PvuⅡ酶切基因型分布频率与其他地区女性有所不同.结论:ERα基因PvuⅡ酶切位点多态性存在种族差异.更多还原

【Abstract】 Objective: In order to provide a reference for further study of estrogen receptor alpha(ER α) gene polymorphism among different racial and ethnic women, and the relationship between point mutation of ER α gene and diseases such as osteoporosis and breast cancer, ER αgene polymorphism of PvuⅡ restriction site were detected in Mongolian women, and their distribution characteristics analyzed. Methods: The PvuⅡ digestion polymorphisms in 271 Mongolian women’s ER α genes were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)and the results were compared with other races. Results: There were polymorphisms for Mongolian women’s ER α genes. The gene types were PP, Pp and pp, and their distribution frequencies were 12.2%, 41.5% and 46.3% respectively. The distribution frequencies of P and p alleles were 36.9% and 67.1%respectively, and the frequency distributions were different from women from other areas as compared with other study results. Conclusion: There are racial differences for PvuⅡ digestion polymorphism of ER α gene.更多还原