脆性X智力低下1基因与原发性卵巢功能不全的相关性研究

来源:用户上传      作者:樊李平 李慧 易红

　　[摘要]目的观察脆性 X 智力低下1（FMR1）基因与原发性卵巢功能不全（POI）的相关性。方法选取深圳市宝安区妇幼保健院于2018年10月至2020年10月接收的 POI 患者50例作为试验组，另选取进行婚前检查或孕前检查的健康人群50例作为对照组，对两组人群中 FMR1基因进行基因测序，了解试验组和对照组 FMR1基因前突变的分布，观察不同年龄、FMR1基因前突变片段区间的三核苷酸重复序列（CGG）重复数目，了解 CGG 序列重复数目与 POI 发病年龄的关系。结果两组患者不同年龄、片段区间的 CGG 序列重复数目比较，差异有统计学意义（P <0.05）;年龄、片段区间是 POI 的独立危险因素（ OR=1.867、1.558，P=0.022、0.017）。结论 POI 发生年龄、片段区间与 FMR1基因前突变 CGG 序列重复数目可能相关。
　　[关键词]原发性卵巢功能不全; FMR1基因;相关性研究;基因突变
　　[中图分类号] R711.75[文献标识码] A [文章编号]2095-0616（2022）15-0120-04
　　Study on the correlation between fragile X mental retardation 1 gene and primary ovarian insufficiency
　　FANLipingLIHuiYIHong
　　Department of Obstetrics， Shenzhen Baoan Women's and Children's Hospital， Guangdong， Shenzhen 518000， China [Abstract] Objective To observe the correlation between fragile X mental retardation 1（FMR1） gene and primary ovarian insufficiency （POI）. Methods A total of 50 patients with POI admitted to Shenzhen Baoan Women's and Children's Hospital from October 2018 to October 2020 were selected as the test group， and another 50 healthy people for pre-marriage physical examination or pre-pregnancy check were selected as the control group. Gene sequencing of FMR1 gene was performed to find the distribution of pre-mutations of FMR1 gene in the test group and the control group， and to observe the number of trinucleotide repeat sequences（CGG） in the pre-mutant fragment region of FMRI gene at different ages in order to investigate the correlation between the number of CGG repeats and the age at POI onset. Results There was significant difference in the number of CGG sequence repeats between the two groups at different ages and fragment intervals （P <0.05）. Age and fragment interval were the independent risk factors of POI （OR=1.867， 1.558， P=0.022， 0.017）. Conclusion The number of CGG repeats in the pre-mutant fragment region of the FMR1 gene may be related to the age at POI onset.
　　[Key words] Primary ovarian insufficiency; FMR1 gene; Correlation study; Gene mutation
　　原l性卵巢功能不全（primary ovarian insufficiency， POI）在40岁前的女性中发生率约为1%，30岁前为1/1000。造成 POI 的病因复杂，其中遗传性因素越来越受到关注。近年来对脆性 X 智力低下1（fragile X mental retardation 1，FMR1）基因研究较多，FMR1基因前突变携带者发生 POI 的概率较高，由于这类 POI 与脆性 X 染色体相关，所以又称为脆性 X 相关原发性卵巢功能不全（fragile X-associated primary ovary insufficiency， FXPOI）[1-3]。FMR1基因前突变可能会引起女性卵巢功能不全，从而引起反复流产、胚胎停育、不孕等，另外携带 FMR1前突变的母亲可能会分娩携带全突变的子女，从而增加脆性 X 染色体综合征（fragile X syndrome，FXS）的发病，特别是男婴。FXS 主要表现为中度到重度的智力低下，发病率仅次于唐氏综合征，是又一大类与智力发育低下有关的人类遗传病。所以，研究 FMR1前突变对女性生育及优生优育有重要的意义[4]。本研究旨在分析 FMR1与 POI 的相关性。

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