• J. Korean Med. Sci. · Jun 2001

    Molecular screening for fragile X syndrome in mentally handicapped children in Korea.

    • S H Kwon, K S Lee, M C Hyun, K E Song, and J K Kim.
    • Department of Pediatrics, Kyungpook National University Hospital, Taegu Catholic University Hospital, Taegu, Korea. shkwon@knu.ac.kr
    • J. Korean Med. Sci. 2001 Jun 1; 16 (3): 271275271-5.

    AbstractFragile 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.

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