广西壮族及汉族人群雌激素受体-α基因多态性的分析

Analysis of estrogen receptor-α polymorphism in Zhuang and Han nationality in Guangxi province

目的 :研究雌激素受体 α基因PvuⅡ和XbaⅠ多态性在广西壮、汉两民族中的分布。方法 :采用PCR RFLP方法检测壮族和汉族PvuⅡ和XbaⅠ多态性 ,比较其在两民族中的分布频率 ,并与其他种族的分布进行比较。结果 :PvuⅡ等位基因P、p频率在壮族与汉族两个民族正常人群中分别为 3 3 .6%、66.4%和 3 1 .9%、68.1 % ;XbaⅠ等位基因X、x频率分别为 2 2 .4%、77.6%和 2 4.2 %、75 .8% ,在壮、汉两民族中比较差异均无显著性 ;与瑞典、韩国种族比较 ,PvuⅡ基因型分布及等位基因频率均存在显著差异。结论 :雌激素受体 α基因PvuⅡ多态性与瑞典、韩国种族间分布有明显的差异。这种差异可能是导致一些疾病在不同种族、不同地区间的发生。

Objective: To study the difference between the Zhuang and Han ethnic groups in Guangxi province in the distribution of Estrogen Receptor-α gene PvuⅡand XbaⅠpolymorphisms. Methods: PvuⅡand XbaⅠpolymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in Zhuangs and Hans,and were compared with other ethnics. Results: PvuⅡ allele frequencies of P, p were 33.6%,66.4% in Zhuangs, 31.9%,68.1% in Hans respectively; XbaⅠallele frequencies of X, x were 22.4%,77.6% in Zhuangs, 24.2%,75.8% in Hans respectively. There was no significant difference in frequencies of genotype and allele in Estrogen Receptor-α between Zhuangs and Hans. Compared with Sweden and Korea ethnics, the distributions of PvuⅡgenotype and allele frequencies were significantly different. Conclusion: There is significant difference in polymorphism of Estrogen Receptor-α compared with Sweden and Korea ethnics. These differences might be one of the genetic factors contributed to the different pathogenesis, progress and prognosis in some diseases among ethnics or regions.