J Korean Neuropsychiatr Assoc.  1999 Nov;38(6):1479-1487.

Molecular Genetic Study for FMR-1 Gene in Autistic Children

• Kang KM
• Kwak DI
• Lee MS

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.

Keyword

Autistic children; FMR-1 gene; Fragile X syndrome

MeSH Terms

Autistic Disorder
Blotting, Southern
Child*
Diagnostic and Statistical Manual of Mental Disorders
DNA
Female
Fragile X Syndrome
Humans
Male
Molecular Biology*
DNA