雌激素受体β基因多态性与女孩性早熟的关系

目的:探讨雌激素受体-β(ERβ)基因多态性与江西地区女孩性早熟的相关性。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术,检测90例江西地区性早熟女孩和70例江西地区健康对照者ERβ基因RsaⅠ和AluⅠ酶切位点基因多态性,并观察基因型对血清E2的影响。结果:病例组ERβ基因RsaⅠ基因型和等位基因频率分布与对照组相比差异有统计学意义(P0.05),其中等位基因R使女孩性早熟发病风险提高了3.12倍(95%CI:1.90～4.79,P0.05);纯合子突变(RR)基因型、杂合子突变(Rr)基因型与野生型(rr)基因型相比,患性早熟的危险度分别为7.05倍(95%CI:2.78～7.88,P0.01)和2.64倍(95%CI:1.09～6.42,P0.05)。E2增高组ERβ基因AluⅠ基因型分布与E2正常组相比差异有统计学意义(P0.05);RsaⅠ基因型和等位基因频率分布在病例组与对照组、E2增高组与E2正常组相比差异均无统计学意义。结论:ERβ基因RsaⅠ位点多态性与女孩性早熟有关,突变基因增加了女孩性早熟的发病风险,RR基因型最易患病。

Relationship between polymorphism of estrogen receptor-β gene and girls with precocious puberty

Objective:To explore the correlation between polymorphism of estrogen receptor-β gene and girls with precocious puberty in Jiangxi.Methods:The gene polymorphisms of Rsa Ⅰ site and Alu Ⅰ site in estrogen receptor-β gene from 90 girls with precocious puberty and 70 healthy girls in Jiangxi were detected by polymerase chain reaction-restriction fragment length polymorphism,the effect of genotype on serum estrogen was observed.Results:There was significant difference in genotype and frequency distribution of allele of Rsa Ⅰ site in estrogen receptor-β gene between case group and control group (P<0.05),the risk of precocious puberty increased by 3.12 times induced by allele R (95%CI:1.90~4.79,P<0.05); compared with wild genotype (rr),the risk of precocious puberty increased by 7.05 times (95%CI:2.78~7.88,P< 0.01) and 2.64 times (95%CI:1.09~6.42,P< 0.05) induced by homozygous mutation genotype (RR) and heterozygous mutation genotype (Rr),respectively; there was significant difference in distribution of Alu Ⅰ site in estrogen receptor-β gene between high estrogen level group and normal estrogen level group (P<0.05); there was no significant difference in genotype and frequency distribution of allele of Rsa Ⅰ site in estrogen receptor-β gene between case group,high estrogen level group and control group,normal estrogen level group.Conclusion:The polymorphism of Rsa Ⅰ site in estrogen receptor-β gene is related to girls with precocious puberty,gene mutation increases the risk of girls with precocious puberty,the girls with RR genotype are the most susceptible to precocious puberty.