Molecular screening for fragile x syndrome in mentally handicapped children in korea.
10.3346/jkms.2001.16.3.271
- Author:
Soon Hak KWON
1
;
Kun Soo LEE
;
Myung Chul HYUN
;
Kyung Eun SONG
;
Jin Kyung KIM
Author Information
1. Department of Pediatrics, Kyungpook National University Hospital, Taegu Catholic University Hospital, Taegu, Korea. shkwon@knu.ac.kr
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Fragile X Syndrome;
Mental Retardation;
Trinucleotide Repeats;
Polymerase Chain Reaction
- MeSH:
Adolescence;
Child;
Child, Preschool;
*Disabled Children;
Female;
Fragile X Syndrome/*genetics;
Genetic Screening;
Human;
Infant;
Korea;
Male;
Mental Retardation/*genetics;
Polymerase Chain Reaction;
Trinucleotide Repeats;
*X Chromosome
- From:Journal of Korean Medical Science
2001;16(3):271-275
- CountryRepublic of Korea
- Language:English
-
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.
