title: Molecular screening for fragile X syndrome in mentally handicapped children in Korea.
abstract: Fragile X syndrome is one of the most common forms of inherited mental retardation and is caused by the expansion of the CGG trinucleotide repeats in the FMR-1 gene. This study was aimed to facilitate the molecular screening of fragile X syndrome in Korean children with mental retardation of unknown etiology. The subjects were tested by Expand Long Template PCR system in the presence of 7-deaza-dGTP, and then by Southern blot analysis. The PCR method provided rapid and reliable results for the identification of fragile X negative and positive patients. One hundred one mentally retarded children (78 males and 23 females) were screened by PCR amplification, which detected only one abnormal sample. The PCR-positive case was confirmed by the CGG repeat expansion on Southern blot analysis with a positive cytogenetic result. In conclusion, Expand Long Template PCR may be used as the first screening test for detecting the fragile X syndrome.
authors: Department of Pediatrics, Kyungpook National University Hospital, Taegu Catholic University Hospital, Taegu, Korea. shkwon@knu.ac.kr
authors: S H
authors: SH
authors: Kwon
authors: K S
authors: KS
authors: Lee
authors: M C
authors: MC
authors: Hyun
authors: K E
authors: KE
authors: Song
authors: J K
authors: JK
authors: Kim
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019988:Children with Disabilities; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007723:Korea; D008297:Male; D016133:Polymerase Chain Reaction; D018911:Trinucleotide Repeats; D014960:X Chromosome