Fragile X syndrome(FXS)is one of the main monogenic diseases that cause intellectual and developmental disorders,and it shows an X-linked incomplete dominant inheritance.The etiology of FXS is unstable extension of(CGG)n repeat within FMR1 gene and abnormal methylation of its upstream CpG island,which would lead to decreasing or deficiency of fragile X mental retardation protein(FMRP).The level of FMRP is directly related to the severity of clinical phenotype.Clinical manifestation and genetic testing are the main diagnostic criteria for FXS.However,the unique molecular structure and genetic pattern of FMR1 gene pose challenges to the molecular diagnosis and genetic counseling of FXS.Therefore,how to detect FMR1 gene conveniently and accurately has always been a focus of attention.This review focuses on the research progress of FXS genetic diagnostic methods,aiming to promote the standardized diagnosis of FXS and provide assistance for clinic.
关键词
FMR1基因/(CGG)n重复/脆性X综合征/基因诊断
Key words
FMR1 gene/(CGG)n repeat/Fragile X syndrome/Genetic diagnosis
维普
万方数据