819例FMR1基因的突变筛查及产前诊断结果分析  

Results of carrier screening and prenatal diagnosis for FMR1 gene in 819 cases

作　　者：李娇[1] 杜娟[1] 阳奇[1] 许涓涓[1] 李萌[1] 付华钰[1] 李敏清[2] Li Jiao;Du Juan;Yang Qi;Xu Juanjuan;Li Meng;Fu Huayu;Li Minqing(Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530003,China;The First Affiliated Hospital of Guangxi Medical University,Nanning,Guangxi 530021,China)

机构地区：[1]广西壮族自治区妇幼保健院,南宁530003 [2]广西医科大学第一附属医院,南宁530021

出　　处：《中华医学遗传学杂志》2020年第10期1104-1107,共4页Chinese Journal of Medical Genetics

摘　　要：目的分析不良孕产史女性中脆性X智力低下1基因(FMR1)突变的携带率,并为携带者提供产前诊断。方法收集819例具有不良孕产史女性的外周血样本,应用三联重复引物-聚合酶链反应(triplet repeat primed PCR,TP-PCR)技术结合毛细管电泳检测FMR1基因的三核苷酸重复数(CGG)n,分析FMR1基因突变的携带率,并为携带者提供产前诊断。结果在819例样本中共检出灰区重复携带者9人,前突变携带者10人,FMR1突变的总体携带率为1/43。对6例携带者的7次妊娠提供了产前诊断,检出前突变女性胎儿1例,全突变男性胎儿1例。结论对具有不良孕产史的女性进行FMR1基因(CGG)n重复筛查,有助于为灰区和前突变携带者提供遗传咨询和生育指导,有效减少脆性X综合征患儿的出生。Objective To determine carrier rate of Fragile X mental retardation 1 gene(FMR1)mutants in women with a history of adverse pregnancy or childbirth,and to provide prenatal diagnosis for the carriers.Methods Peripheral blood samples were collected from women with a history of adverse pregnancy or childbirth,and the FMR1 gene cytosine-guanine-guanine repeat number(CGG)n was determined by triple-repeat primer polymerase chain reaction(TP-PCR)combined with capillary electrophoresis.Prenatal diagnosis was provided for the carriers during pregnancy.Results Among 819 samples,9 gray zone repeats carriers and 10 premutation carriers were detected,which gave a prevalence of 1 in 91 and 1 in 82,respectively,with a total prevalence of 1 in 43.Prenatal diagnosis was provided during 7 pregnancies for 6 carriers.A female fetus with premutation(n=30/57)and an affected male fetus with full mutation(n=336)were detected.Conclusion FMR1 gene testing in women with a history of adverse pregnancy or childbirth can facilitate genetic counseling and reproductive guidance for carriers of gray zone repeats and premutations.Prenatal diagnosis for carriers of premutation can facilitate reduction of the birth of children with fragile X syndrome.

关 键 词：脆性X综合征 FMR1基因 CGG重复数 携带者筛查 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]