J Korean Med Sci.  2001 Jun;16(3):271-275. 10.3346/jkms.2001.16.3.271.

Molecular screening for fragile x syndrome in mentally handicapped children in korea

• Kwon SH
• Lee KS
• Hyun MC
• Song KE
• Kim JK

• KMID: 1129896
• DOI: http://doi.org/10.3346/jkms.2001.16.3.271

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.

Keyword

Fragile X Syndrome; Mental Retardation; Trinucleotide Repeats; Polymerase Chain Reaction

MeSH Terms

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