特发性中枢性性早熟女童ERα基因PvuⅡ和XbaⅠ多态性分析  

Ploymorphism of PvuⅡand XbaⅠgene of the estrogen receptor-α in girls with idiopathic central precocious puberty

作　　者：李明珠[1] 董国庆[1] 蒋绍艳[1] 张忠菊[1] 李坚旭[1] 黄秒[1] 陈昱[1] 

机构地区：[1]南方医科大学附属深圳妇幼保健院儿科,广东深圳518028

出　　处：《中国热带医学》2015年第5期542-545,共4页China Tropical Medicine

基　　金：深圳市知识创新计划项目(No.JYC20130402090948811)

摘　　要：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 polymorphism of Pvu Ⅱ and Xba gene of estrogen receptor-ct in girls with idio- pathic central precocious puberty（ICPP）. Methods The polymorphism of Pvu Ⅱ and XbaⅠ genes of estrogen receptor-or in 100 girls with ICPP and 100 healthy controls were detected by restriction fragment length polymorphism polymerase chain reae- tion（PCR-RFLP）. And the frequency distribution of genotypes and alleles of Pvu Ⅱ and Xba I between the ICPP groups and control groups were statistically analyzed. Results Significant differences in the genotype freguencies and the alle of ERα at Pvu Ⅱ and Xba Ⅰ enzyme cutting sites were noticed between two groups. （ 22=9.023, P=0.011; 22= 11.74, P=0.003）. The risk of ICPP in girls with allele P or X was 1.75 （95%CI 1.152-2.659, P〈0.05）or 2.061 （95%CI 1.351-3.145, P〈0.05） folds of that with allele p or x.. Conclusion The polymorphism of Pvu Ⅱ and Xba Ⅰ gene in estrogen rcccptor-α were assosciatcd with ICPP. Allele P or X may he the risk factors for girls with ICPP and the girls with genotype Pp or Xx were susceptible to ICPP.

关 键 词：特发性中枢性性早熟 雌激素受体Α 基因多态性 

分 类 号：R586.23[医药卫生—内分泌]