Molecular Genetic Study for FMR-1 Gene in Autistic Children / 신경정신의학

ABSTRACT

OBJECTIVES: To elucidate an association of the fragile X syndrome with autism, Southern blot analysis was performed in 66 autistic children aged from 2 years to 11 years. METHODS: Subjects were 66 autistic children with of autistic disorder diagnosed by DSM-IV criteria and Childhood Autism Rating Scale-Korean version. Genomic DNA was extracted from peripheral blood and DNA was used to detect a FMR (Fragile Mental Retardation)-1 gene. Xho/PstI probes and two restriction enzymes (EcoRI, EagI)were used for Southern blot analysis. RESULTS: There were one boy with a methylated mosaic pattern and 3 boys and 2 girls with an unmethylated premutation band. But there was no full mutation pattern. CONCLUSION: Although the possibility of the relationship between autistic disorder and FMR-1 gene has been suggested, the results from this study do not provide any definite association of FMR-1 gene with autism in autistic children.