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[目的]了解雌激素受体(ER)α基因多态位点在中国女性人群中的分布频率。[方法]采用荧光定量PCR技术及聚合酶链反应-限制性片段长度多态性方法对432例中国女性进行Codon594、PvuII、XbaI 3个位点检测,并与其他种族人群比较。[结果]Codon594位点基因分型频率GG型为59.96%、GA型33.33%、AA型6.71%;PvuII位点频率CC型38.89%、TC型44.91%、TT型16.20%;XbaI位点基因分型频率为GG型45.37%、AG型41.43%、AA型13.20%;3个位点H-W检验符合遗传平衡定律;连锁不平衡分析Codon594与PvuII、XbaI3个位点的D’值分别为0.127、0.181,PvuII与XbaI位点之间D’值为0.484,未见连锁不平衡。[结论]PvuII、XbaI位点多态性分布存在种族差异,但Codon594位点多态性分布无种族差异。
[Objective] To investigate the distribution of estrogen receptor (α) gene polymorphism in Chinese female population. [Methods] 432 Chinese women were tested for Codon594, PvuII and XbaI loci by real-time PCR and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Compared with other ethnic groups. [Results] The genotype frequency of Codon594 was 59.96%, GA 33.33% and AA 6.71% respectively. The frequency of PvuII site CC was 38.89%, TC was 44.91% and TT was 16.20% The frequency of type 3 was 45.37% for GG type, 41.43% for AG type and 13.20% for AA type. The HW test of three loci was in accordance with the law of genetic balance. The linkage disequilibrium analysis showed that the D ’values of Codon594, PvuII and XbaI loci were 0.127 and 0.811 , The value of D ’between PvuII and XbaI loci was 0.484, and no linkage disequilibrium was found. [Conclusion] There are racial differences in the polymorphism distribution of PvuII and XbaI loci, but there is no racial difference in the polymorphism distribution of Codon594 loci.