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目的通过FMR1基因的CGG重复序列的检测探究中国大陆妇女反复生育失败和卵巢早衰的原因。方法本次全国多中心的横断面研究根据异常生育病史和卵巢功能将入选妇女分为3组:A组(不明原因反复生育失败妇女)、B组(卵巢早衰患者)、C组(家族中有自闭症及不明原因智力低下儿出生史的妇女)。测定FMR1基因CGG重复序列。结果本研究共入组2 334例患者,其中A组2 216例,B组70例,C组48例。最常见的CGG重复次数是30(718例,占33.8%)和29(669例,占28.7%)。共发现16例前突变和15例灰区,无全突变。前突变的总发生率为1∶146,分别是A组为1∶369(6/2 216)、B组为1∶35(2/70)、C组为1∶6(8/48)。结论反复生育失败和卵巢早衰妇女的FMR1基因前突变携带者发生风险较高,对这些人群进行FMR1基因筛查,可以帮助医生从基因的角度为她们提供更好的生育咨询。
Abstract：Objective:To determine the distribution of CGG repeat of the FMR1 gene in the recurrent pregnancy failure and premature ovary failure patients in China.Methods: Based on the histories of abnormal pregnancy and ovarian function,this multicenter cross-sectional study divided the selected patients into 3 groups:group A included women with unexplained recurrent pregnancy failure;group B included women with premature ovarian failure and group C included women with a family history of undiagnosed intellectual disability and autism.The number of CGG repeats in FMR1 was measured for thedistribution of pre-mutation(PM)of FMR1 gene among this special patients.Results:A total 2 334 patients were included in this study,including 2 216 patients in group A,70 patients in group B,and 48 patients in group C.The most common number of CGG repeats was 30(n=718,33.8%)and 29(n=669,28.7%).There were 16 women with PM,15 women with the"gray zone",and no full mutation was found among all the patients.The total incidence of PM was 1∶146,which was 1∶369(6/2 216)in group A,1∶35(2/70)in group B,and 1∶6(8/48)in group C.Conclusions:FMR1 premutation carriers were more prevalent among the patients with recurrent pregnancy failure and premature ovarian failure.Therefore,it's valuable to perform the screening of FMR1 gene among the abnormal population in order to provide them better fertility counseling on genetic level.
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基本信息:
中图分类号:R711.75
引用信息:
[1]陈蔚琳,金力,武淑英,等.FMR1基因CGG重复序列频度与反复生育失败或卵巢早衰妇女的相关性研究[J].生殖医学杂志,2018,27(10):946-951.
基金信息:
国家自然科学基金面上项目(81571398)
2018-10-15
2018-10-15