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目的:了解雌激素受体(ER)基因多态性在中国正常人群中的分布及其在不同种族中分布的差异。方法:通过PCR限制性酶切方法对172名正常个体的基因组DNA中ER基因RFLP多态性进行了观察,并结合文献进行了不同种族间的分析比较。结果:中国正常人群中ER基因型以pp型,xx型和ppxx型发生频率最高,这种分布特点在正常男女间差异不显著。与其他种族相比较,ER基因型在中国正常人群中的分布与日本人群中的分布较为接近,而与瑞典,美国人群中的分布差异显著。结论:ER基因RFLP基因多态性在不同种族间分布存在着明显的差异,这种差异有可能是导致一些疾病在不同种族间发病率和临床表现存在显著不同的因素之一
Objective: To investigate the distribution of estrogen receptor (ER) gene polymorphism in Chinese normal population and its distribution in different races. Methods: The RFLP polymorphism of ER gene in 172 normal individuals was examined by restriction endonuclease digestion, and analyzed and compared among different races based on the literature. Results: The genotypes of pp genotypes, xx genotypes and ppxx genotypes were the most frequent in Chinese normal population. The distribution was not significantly different between normal men and women. Compared with other races, the distribution of ER genotypes in Chinese normal population was close to that in Japanese population, but significantly different from those in Sweden and the United States. CONCLUSION: There is a significant difference in the distribution of RFLP gene polymorphisms between different races, which may be one of the factors leading to significant differences in morbidity and clinical manifestations among different races