雌激素受体基因多态性在中国汉族人群中的分布特点

DISTRIBUTION OF ESTROGEN RECEPTOR GENE POLYMORPHISM IN CHINESE

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。

OBJECTIVE Estrogen may participate in the pathogenesis of many diseases via its intracellular receptor.The gene for the receptor has two known polymorphism in intron 1:Pvull and Xbal,which are reported to be associated with receptor expression and function.In this study,we investigated the distribution of estrogen receptor(ER)gene polymorphism in healthy Chinese population,and compared its difference between Chinese and Caucasian population. METHODOLOGY Pvull and Xbal restriction fragment length polymorphism(RFLP)of estrogen receptor gene were analyzed in 101 male and 71 female healthy subjects by polymerase chain reaction and restriction digestion with Pvull and Xbal. RESULTS The distribution of ER gene polymorphism was similar between female and male subjects in Chinese population.However,the distribution of ER genotype in different ethnic groups were quite different.There was a significant increase in the frequencies of genotype xx,pp and ppxx among Chinese as compared to Caucasian.However,the frequencies of genotype Xx,Pp and PpXx were much higher in Caucasian than in Chinese. CONCLUSION The distribution of ER gene polymorphism is quite different between Chinese and Caucasian.The variation of ER gene polymorphism among different ethnic groups may account for the varied clinical spectrum of some estrogen related diseases.