甲基化荧光定量PCR快速检测自闭症男童中脆性X综合征的临床应用  

Clinical Application of Quantitative Methylation⁃sensitive PCR in Fast Screening of Fragile X Syndrome from Males with Autism

作　　者：陈剑虹 黄淑君[2] 马健[2] 周伟平[2] 张亮[2] CHEN Jianhong;HUANG Shujun;MA Jian;ZHOU Weiping;ZHANG Liang(Prenatal Diagnosis Center,Huizhou Maternal and Child Health Care Family Planning Service Center,Hui⁃zhou,China,516000;Center of Translational Medicine,Guangdong Women and Children hospital,Guangzhou,China,511400)

机构地区：[1]惠州市妇幼保健计划生育服务中心产前诊断中心,广东惠州516000 [2]广东省妇幼保健院转化医学中心,广东广州511400

出　　处：《分子诊断与治疗杂志》2020年第2期142-145,211,共5页Journal of Molecular Diagnostics and Therapy

摘　　要：目的建立一种经济、快速的检测男性脆性X综合征检测方法。方法应用甲基化实时荧光定量PCR法(qMSP)检测已知脆性X综合征男性患者和正常男性的脆性X智力低下基因1(FMR1)启动子区甲基化状态,测试该方法的灵敏度和特异性。应用该方法对特殊学校54例自闭症男童进行病因学检查,并对阳性样本用侧翼PCR(F⁃PCR)进行复核。结果在特殊学校的54例自闭症男童样本中发现1例FMR1甲基化阳性,F⁃PCR方法复核为CGG重复数为全突变,其母亲为前突变携带者。结合临床症状,该自闭症男童可以确诊为脆性X综合征,检出率为1.85%(1/54)。结论本文所建立的qMSP方法可以对FMR1基因的CpG甲基化状态进行快速分析,可作为男性疑似脆性X综合征检测的可靠方法。Objective To establish a low⁃cost,rapid assay to detect the methylation status of frag⁃ile X mental retardation gene 1(FMR1).Methods First,a quantitative methylation⁃sensitive PCR(qMSP)method was used to determine FMR1 gene methylation status of males with full⁃mutation fragile X syndrome and normal males to test its sensitivity and specificity.Second,54 boys with autism attending special education school were analyzed for etiology,followed by flanking polymerase chain reaction(F⁃PCR)to identifying CGG repeats for the methylation positive individual and his mother.Results Among the 54 boys with au⁃tism,one was detected to be FMR1⁃methylated.Conclusion The qMSP method established in this study can quickly analyze the CpG methylation status of the FMR1 gene and can be used as a reliable method for the de⁃tection of suspected fragile X syndrome in males with mental retard or autism.

关 键 词：脆性X综合征 FMR1基因 甲基化荧光定量PCR 

分 类 号：R749.94[医药卫生—神经病学与精神病学] R440[医药卫生—临床医学]