摘要
目的探讨脆性X智力障碍基因1(FMR1)基因CGG重复序列与不明原因早期自然流产发病机制的相关性。方法收集2015年5月1日至2018年4月1日在北京妇产医院计划生育科就诊的难免流产或需行清宫操作的2 000例患者为自然流产组;同期在北京妇产医院产科就诊的1 480例顺利分娩女性为对照组。两组患者均于孕早期或孕中期抽取外周血,提取基因组DNA,应用FMR1基因Amplide X检测技术进行FMR1基因CGG重复序列数检测。比较两组CGG重复序列情况并加以分析。结果 (1)所有对象的FMR1基因检测未检出全突变病例;自然流产组中CGG重复最大频率等位基因n=30(32.95%),其后依次是29(31.15%)、36(15.60%)、31(5.85%);对照组CGG重复最大频率等位基因为n=30(33.24%),其后依次为29(25.47%)、36(14.73%)、31(8.38%)。自然流产组及对照组CGG重复位点均数比较无显著性差异[(29.33±5.19)vs.(28.73±6.37)](P>0.05)。(2)自然流产组FMR1基因中间型携带率为1∶222,对照组1∶247,组间比较无显著性差异(P>0.05)。自然流产组的脆性X综合征前突变携带频率(1∶400)显著高于对照组(1∶740)(P<0.05)。结论 FMR1基因CGG重复序列前突变与不明原因早期自然流产可能存在相关性。
Objective:To investigate the relationship between the CGG repeat of the fragile X mental retardation gene 1(FMR1)gene and the pathogenesis of unexplained early spontaneous abortion.Methods:Two thousands patients with spontaneous abortion or need clearing uterine surgery were collected as spontaneous abortion group at the Family Planning Department of Beijing Maternity Hospital from May 1,2015 to April 1,2018.In the same period,1 480 women who had successfully delivered to the obstetrics department of Beijing Maternity Hospital were as control group.Peripheral blood was extracted and genomic DNA was extracted.The Amplide X TM gene detection technique was used to detect CGG repeat polymorphism of FMR1 gene.The results were compared between the two groups.Results:The full mutation of FMR1 gene was not detected in all samples.The maximum frequency allele of FMR1-CGG repeats was 30(32.95%),followed by 29(31.15%),36(15.60%)and 31(5.85%)in the spontaneous abortion group.The maximum frequency allele of FMR1-CGG repeats was 30(33.24%),followed by 29(25.47%),36(14.73%),31(8.38%)in the control group.The average number of CGG repetitions was not significantly different between spontaneous abortion group and control group[(29.33±5.19)vs.(28.73±6.37)](P>0.05).The intermediate carrying rate of FMR1 gene in the spontaneous abortion group and in the control group was 1∶222 and 1∶247 respectively,and the difference was not significant(P>0.05).The frequency of premutation(PM)of fragile X syndrome(1∶400)in spontaneous abortion group was significantly higher than that in the control group(1∶740)(P<0.05).Conclusions:The premutation of FMR1 gene maybe related with unexplained early spontaneous abortion.
作者
冯旺琴
陈素文
武淑英
陈雁鸣
FENG Wang-qin;CHEN Su-wen;WU Shu-ying;CHEN Yan-ming(Department of Family Planning,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100026;Department of Obstetrics&Gynecology,the Third Hospital of Peking University,Beijing 100083)
出处
《生殖医学杂志》
CAS
2019年第1期12-17,共6页
Journal of Reproductive Medicine
基金
首都医科大学附属北京妇产医院中青年学科骨干培养专项(fcyy201526)
关键词
FMR1基因
脆性X综合征
CGG重复序列多态性
自然流产
Fragile X mental retardation 1(FMR1)gene
Fragile X syndrome
CGG repeat polymorphism
Spontaneous abortion
