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目的研究雌激素受体α(ERα)基因多态性在云南省白族育龄女性人群中的分布频率。方法以196例云南省白族育龄女性为研究对象,分析其ERα基因rs2234693(PvuⅡ)、rs9340799(XbaⅠ)位点基因型和基因频率的分布特征,并与其他种族人群结果进行比较。结果 rs2234693(PvuⅡ)、rs9340799(XbaⅠ)位点基因型和等位基因频率分布均符合HardyWeinberg遗传平衡定律。rs2234693(PvuⅡ)位点酶切区分出CC基因型34例(17.35%)、CT基因型98例(50.00%)、TT基因型64例(32.65%);rs9340799(XbaⅠ)位点酶切区分出AA基因型137例(69.89%)、AG基因型52例(26.53%)、GG基因型7例(3.57%)。云南省白族育龄女性ERα基因rs2234693位点基因型频率与新疆维吾尔族女性、宁夏回族女性、湖南汉族女性比较差异无统计学意义(P>0.05);等位基因频率与新疆维吾尔族女性、宁夏回族女性比较差异无统计学意义(P>0.05),与湖南汉族女性比较差异有统计学意义(P<0.05)。云南省白族育龄女性ERα基因rs2234693位点基因型及等位基因频率与非洲人群(YRI)比较差异有统计学意义(P<0.05),与北京汉族人群(CHB)、中国南方汉族(CHS)、中国傣族(CDX)、欧洲人群(CEU)比较差异无统计学意义(P>0.05)。云南省白族育龄女性ERα基因rs9340799位点基因型及等位基因频率与新疆维吾尔族女性比较差异有统计学意义(P<0.05),与宁夏回族女性、湖南汉族女性比较差异无统计学意义(P>0.05)。云南省白族育龄女性ERα基因rs9340799位点基因型频率与CEU比较差异有统计学意义(P<0.05),与CHB、CHS、CDX、YRI比较差异无统计学意义(P>0.05);等位基因频率与YRI、CEU比较差异有统计学意义(P<0.05),与CHB、CHS、CDX比较差异无统计学意义(P>0.05)。结论云南省白族育龄女性ERα基因rs2234693、rs9340799位点多态性与其他种族存在差异。
Objective To study the distribution of estrogen receptor α (ERα) gene polymorphism in the reproductive age women of Bai nationality in Yunnan province. Methods A total of 196 ethnic women of childbearing age in Bai ethnic group of Yunnan province were studied. The genotypes and frequencies of ERα gene rs2234693 (Pvu Ⅱ) and rs9340799 (Xba Ⅰ) loci were analyzed and compared with those of other ethnic groups. Results The frequency distribution of genotypes and alleles of rs2234693 (Pvu Ⅱ) and rs9340799 (Xba Ⅰ) were in accordance with Hardy Weinberg’s law of genetic balance. There were 34 (17.35%) CC genotypes, 98 (50.00%) CT genotypes and 64 TT genotypes (32.65%) in rs2234693 (PvuⅡ) There were 137 cases (69.89%) of AA genotypes, 52 cases (26.53%) of AG genotypes and 7 cases (3.57%) of GG genotypes. There was no significant difference in genotype frequencies of ERα gene rs2234693 locus between ethnic women of Bai nationality in Yunnan province and Uyghur women in Xinjiang, female in Ningxia and Han nationality in Hunan (P> 0.05). The frequency of allele was not associated with female Uyghur in Xinjiang, There was no significant difference between female and female (P> 0.05), but there was significant difference with female in Hunan Han (P <0.05). The genotype and allele frequencies of ERα gene rs2234693 in Yunnan Bai women of reproductive age were significantly different from those of African people (YRI) (P <0.05), but not significantly different from those of Beijing Han population (CHB), Han Chinese (CHS) There was no significant difference between Chinese Dai (CDX) and European population (CEU) (P> 0.05). The genotype and allele frequency of ERα gene rs9340799 in Bai nationality women of Yunnan province were significantly different from that of Uyghur women in Xinjiang (P <0.05), but not significantly different from the Hui women in Ningxia and the Han women in Hunan (P > 0.05). The frequency of rs9340799 locus of ERα gene in Bai nationality of Yunnan province was significantly different from that of CEU (P <0.05), but not significantly different from that of CHB, CHS, CDX and YRI (P> 0.05) The frequency was significantly different from that of YRI and CEU (P <0.05), but not significantly different from CHB, CHS and CDX (P> 0.05). Conclusion There is a difference between rs2234693 and rs9340799 polymorphisms of ERα gene in ethnic women of Bai nationality in Yunnan province and other races.