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目的探讨新疆地区维吾尔族(维族)和汉族女性雌激素受体-α(estrogen receptor-α,ER-α)基因多态性的分布情况和种族间差异。方法新疆地区无亲缘关系、年龄20～40岁160名汉族健康女性和135名维族健康女性,应用聚合酶连反应限制性片段长度多态性技术检测ER-α基因XbaⅠ及PvuⅡ多态性。结果维、汉族女性ER-αXbaⅠ及PvuⅡ位点基因型与等位基因频率分布均符合Hardy-Weinberg平衡定律;维、汉族女性ER-αXbaⅠ及PvuⅡ位点基因型与等位基因频率分布差异均有统计学意义(P<0.05)。结论新疆地区维、汉族女性ER-α基因多态具有差异性。
Objective To investigate the distribution of estrogen receptor-α (ER-α) gene polymorphism in Uighur (Uygur) and Han nationality in Xinjiang and their inter-ethnic differences. Methods There were 160 healthy Han women and 135 Uygur healthy women aged 20-40 years unrelated to Xinjiang Uygur Autonomous Region. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to detect the XbaⅠ and Pvu Ⅱ polymorphisms of ER-α gene. Results The frequency distribution of genotypes and alleles of ER-αXbaⅠ and PvuⅡ loci in Uygur and Han nationality women all accorded with Hardy-Weinberg equilibrium law. The genotype and allele frequency distribution of ER-αXbaⅠ and PvuⅡ loci in Uygur and Han women were Statistical significance (P <0.05). Conclusions The polymorphisms of ER-α gene in Uygur and Han nationality in Xinjiang are different.