摘要
目的探讨雌激素受体α基因PvuⅡ和XbaⅠ多态性与特发性性早熟女童的相关性。方法选择2009年6月至2012年6月在江西省妇幼保健院门诊诊断为特发性性早熟(idiopathic central precocious puberty,ICPP)的女童80例作为研究组;选取同期在儿保科体检且身体健康的女童50例为对照组,应用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCRRFLP)分析技术,检测两组女童雌激素受体α基因PvuⅡ和XbaⅠ遗传多态性。结果两组雌激素受体α基因XbaⅠ酶切位点基因型频率分布比较差异有统计学意义(P<0.05);两组等位基因频率的分布比较差异无统计学意义(P>0.05);两组PvuⅡ位点的基因型频率及等位基因频率分布比较差异均无统计学意义(P>0.05)。结论雌激素受体α基因XbaⅠ位点多态性与ICPP存在一定相关性,Xx基因型最易患病,雌激素受体α基因PvuⅡ位点多态性与ICPP的发生无明显关联。
Objective To study the association of estrogen receptor α（ ERα） gene PvuⅡ、XbaⅠpolymorphisms with girls with idiopathic central precocious puberty in Jiangxi Province. Methods To selected 80 girls as the study group who accepted the examination and the clinical diagnosis of idiopathic central precocious puberty in the clinic of Jiangxi Provincial Maternal and Child Health Hospital from June 2009 to June 2012 and 50 healthy as the control group who accepted health examination in child care department on the same time. Polymerase chain reaction- restriction fragment length polymorphism（ PCR- RFLP） was used to study the ERα gene PvuⅡ、XbaⅠpolymorphisms of the two groups. Results For the XbaⅠ polymorphism,there were significant differences in genotype distribution（ P 〈 0. 05）; No significant differences in allele frequency between the two groups（ P 〉 0. 05）; The Pvu Ⅱpolymorphism of ERα gene had no statistical significance both in distribution of genotype and allele frequency between the two groups（ P 〉 0. 05）. Conclusion The polymorphisms of Xba Ⅰ ERα gene had some relation to girls with idiopathic central precocious puberty,Girls with Xx genotype were the most susceptible to the disease. The polymorphisms of PvuⅡ ERα gene had no relation to girls with idiopathic central precocious puberty.
出处
《中国计划生育和妇产科》
2014年第9期54-57,共4页
Chinese Journal of Family Planning & Gynecotokology
基金
中国疾病预防控制中心妇幼保健中心合生元母婴营养与健康研究项目(项目编号:2012FY013)
江西省科技厅科技支撑计划(项目编号:2009BSB10802)
关键词
雌激素受体Α
特发性性早熟
基因多态性
Estrogen receptor α
idiopathic central precocious puberty
gene polymorphism
