271例蒙古族女性雌激素受体α基因PvuⅡ酶切多态性分布特征

Distribution Characteristics of PvuⅡ Digestion Polymorphism of Estrogen Receptor Alpha Gene in Mongolian Women

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.

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.