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KMID : 0367320000110010003
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Journal of the Korean Academy of Child and Adolescent Psychiatry
2000 Volume.11 No. 1 p.3 ~ p.15
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MOLECULAR BIOLOGIC ANALYSIS OF FMR-1 GENE TRINUCLEOTIDE REPEATS IN AUTISTIC PATIENTS
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Kwak Ho-Soon
Jung Chul-Ho
Chun Hyo-Jin
Chang Eun-Jin
Kim Hee-Cheol
Kim Jung-Bum
Park Young-Nam
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Abstract
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Objectives : There has been a rapid expansion of studies aimed at elucidating the genetic basis of autistic disorder, especially it´s relationship to fragile-X syndrome. The detection of fragile X chromosome(Xq27.3) by cytogenetic analysis has revealed many difficulties in testing. Therefore, to explore the relationship between autistic disorder and fragile X syndrome, this study administered molecular biologic methods which examined an unstable CGG repeat within the fragile X mental retardation-1(FMR-1) gene.
Methods : Ninety nine autistic children and eight normal control children were tested. The number of CGG repeats within FMR-1 gene was measured after amplification by PCR, and cytogenetic analysis was also carried out to detect fragile site Xq27.3. Southern blot hybridization, using StR12.3 and/or Pfxa3 probe, was done for the patients showing expansion of more than 50 CGG repeats(premutation).
Results : All but two autistic patients had no expansion in CGG repeats by PCR and there was no significant statistical difference in number of CGG repeat in comparison with normal control. Two autistic patients, considered as premutation by PCR analysis, had no full mutation or premutation by Southern blot hybridization. All autistic children tested did not have any abnormal karyotype or fragile site Xq27.3.
Conclusions : These results suggest that autistic patients may not have abnormality in FMR-1 gene or abnormal expansion in CGG repeat. In conclusion, fragile X syndrome may not be antecedent of autistic disorder.
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KEYWORD
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Autistic disorder, FMR-1 gene trinucleotide repeats, Molecular biologic analysis
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