30例脆性X携带者的产前诊断  

Prenatal diagnosis for 30 women carrying a FMR1 mutation

作　　者：黄文[1] 薛瑾 康怀兴[1] 关新新 滕炎玲 邬玲仟[1] 段然慧[1] Huang Wen;Xue Jin;Kang Huaixing;Guan Xinxin;Teng Yanling;Wu Lingqian;Duan Ranhui(Centerfor Medical Genetics,School of LifeScience,Central South University,Changsha,Hunan 410078,China)

机构地区：[1]中南大学生命科学学院医学遗传学研究中心,长沙410078

出　　处：《中华医学遗传学杂志》2019年第9期866-869,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81771385,81571253);湖南省自然科学基金(2016JJ3135).

摘　　要：目的 对脆性X携带者孕妇及胎儿CGG重复数目和甲基化进行检测,为遗传咨询和产前诊断提供依据.方法 应用高GC含量PCR对30例行产前诊断的脆性X携带者孕妇绒毛膜、羊水、脐血的CGG重复数目进行检测,再行Southern印迹甲基化测定和重复数目验证.结果 在29例脆性X携带者(1例双胎妊娠)和1例FMR1基因嵌合缺失的产前诊断病例中,检出前突变3例、全突变9例、前突变/全突变嵌合1例,正常18例.结论 脆性X患者分型复杂,单一技术无法准确诊断,不同类型患者检测项目均会有所差异,需根据患者实际情况谨慎确定检测方案,进行规范的产前诊断.Objective To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation.Methods For 30 pregnant women,the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus,amniotic fluid or umbilical blood samples.The methylation status of the FMR1 gene was confirmed with Southern blotting.Results In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism.Three fetuses were found to carry premutations,9 were with full mutations and 1 with mosaicism of premutation and full mutations.Eighteen fetuses were normal.Conclusion Considering the genetic complexity of Fragile X syndrome(FXS),single method may not suffice accurate determination of their genetic status.The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.

关 键 词：脆性X综合征 CGG重复序列 高GC含量PCR 产前诊断 

分 类 号：R5[医药卫生—内科学]