Year: 2000
Type: article
Study design: Observational Study
Abstract: Objectives：There has been a rapid expansion of studies aimed at elucidating the genetic basis \nof autistic disorder, especially it’s relationship to fragile-X syndrome. The detection of fragile X \nchromosome(Xq27.3) by cytogenetic analysis has revealed many difficulties in testing. Therefore, to \nexplore the relationship between autistic disorder and fragile X syndrome, this study administered \nmolecular biologic methods which examined an unstable CGG repeat within the fragile X mental \nretardation-1(FMR-1) gene. \nMethods：Ninety nine autistic children and eight normal control children were tested. The number \nof CGG repeats within FMR-1 gene was measured after amplification by PCR, and cytogenetic \nanalysis was also carried out to detect fragile site Xq27.3. Southern blot hybridization, using StB12.3 \nand/or Pfxa3 probe, was done for the patients showing expansion of more than 50 CGG repeats \n(premutation). \nResults：All but two autistic patients had no expansion in CGG repeats by PCR and there was no \nsignificant statistical difference in number of CGG repeat in comparison with normal control. Two \nautistic patients, considered as premutation by PCR analysis, had no full mutation or premutation by \nSouthern blot hybridization. All autistic children tested did not have any abnormal karyotype or \nfragile site Xq27.3. \nConclusions：These results suggest that autistic patients may not have abnormality in FMR-1 gene \nor abnormal expansion in CGG repeat. In conclusion, fragile X syndrome may not be antecedent of \nautistic disorder.
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W862694925