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目的探讨雌激素受体α(Estrogen receptor,ERα)基因PvuⅡ和XbaⅠ多态性与特发性中枢性性早熟(Idio-pathic central precocious puberty,ICPP)女童发病的关系。方法选取特发性中枢性性早熟女童100例,同时选择体检健康女童100例为对照组,采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)方法检测两组女童ERα基因内切酶PvuⅡ和XbaⅠ限制性片段长度多态性,比较分析两组PvuⅡ和XbaⅠ基因型及等位基因分布频率。结果 1ERα基因PvuⅡ基因型PP、Pp、pp频率,Xba I基因型XX、Xx、xx频率分别与对照组相比,差异均有统计学意义(χ2=9.023,P=0.011;χ2=11.740,P=0.003);2携带PvuⅡ的P等位基因发生ICPP的相对风险是p的1.750倍(95%CI:1.152~2.659,P<0.05);携带Xba I的X等位基因发生ICPP的相对风险是x的2.061倍(95%CI:1.351~3.145,P<0.05)。结论在ICPP人群中存在雌激素受体α基因PvuⅡ和XbaⅠ位点基因多态性,P等位基因和X等位基因可能是特发性中枢性性早熟女童遗传易感性基因,Pp基因型或Xx基因型相对易于患病。
Objective To investigate the relationship between the Pvu Ⅱ and Xba Ⅰ polymorphisms of estrogen receptor (ERα) gene and the incidence of idiopathic precocious puberty (ICPP) in girls. Methods 100 cases of idiopathic central precocious puberty girls were selected, and 100 healthy healthy girls were selected as the control group. The restriction endonucleases polymerase chain reaction (PCR-RFLP) Enzyme Pvu Ⅱ and Xba Ⅰ restriction fragment length polymorphism, comparative analysis of two groups of Pvu Ⅱ and Xba Ⅰ genotype and allele frequency. Results The frequencies of PP, Pp, pp and XX, Xx, and Xx of PvuⅡ genotypes in 1ERα gene were significantly different from those in control group (χ2 = 9.023, P = 0.011; χ2 = 11.740, P = 0.003) .2 The relative risk of developing ICPP with the P allele carrying PvuII was 1.750 times p (95% CI: 1.152-2.659, P <0.05). The relative risk of ICPP with the X allele carrying Xba I was 2.061-fold (95% CI: 1.351 to 3.145, P <0.05) for x. Conclusions The polymorphisms of Pvu Ⅱ and Xba Ⅰ loci of estrogen receptor α gene exist in ICPP population. The P allele and X allele may be genetic susceptibility genes of idiopathic precocious puberty girls, Pp genotype or The Xx genotype is relatively susceptible to disease.