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特发性中枢性性早熟女童ERα基因PvuⅡ和XbaⅠ多态性分析

, PP. 542-545

Keywords: 特发性中枢性性早熟,雌激素受体α,基因多态性

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Abstract:

目的探讨雌激素受体α(Estrogenreceptor,ERα)基因PvuⅡ和XbaⅠ多态性与特发性中枢性性早熟(Idiopathiccentralprecociouspuberty,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,XbaI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%CI1.152~2.659,P<0.05);携带XbaI的X等位基因发生ICPP的相对风险是x的2.061倍(95%CI1.351~3.145,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。

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