title: Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation.
abstract: Mutations at two fragile sites, FRAXA and FRAXE, loci are caused by an expansion of a CGG/GCC trinucleotide repeat and are characterized by mental retardation. Here we report molecular screening survey of 97 unrelated individuals diagnosed with non-specific mental retardation (MR), which produced positive test for FRAXA in two boys and none positive for the FRAXE mutation. In addition, we studied allelic frequency distribution for the FRAXA locus in this group of mentally retarded patients, as well as in the 99 healthy subjects of Yugoslav population. The distribution of FMR1 CGG repeat size in both groups was similar: the most common allele contained 29 repeats (32.86% in the healthy population and 54.54% in MR population), followed by the allele with 28 CGG repeats (21.43% in the healthy and 12.2% in MR population). Premutation alleles with more than 45 repeats were not found in control nor in the MR group.
authors.affiliation: Faculty of Biology, School of Medicine, University Belgrade,11000, Yugoslavia.
authors.forename: Tamara
authors.initials: T
authors.lastname: Major
authors.forename: Biljana
authors.initials: B
authors.lastname: Culjkovic
authors.forename: Oliver
authors.initials: O
authors.lastname: Stojkovic
authors.forename: Marija
authors.initials: M
authors.lastname: Gucscekic
authors.forename: Aneta
authors.initials: A
authors.lastname: Lakic
authors.forename: Stanka
authors.initials: S
authors.lastname: Romac
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000453:epidemiology* / Q000235:genetics; D023281:Genomics; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D015995:Prevalence; D016601:RNA-Binding Proteins; D015534:Trans-Activators / Q000235:genetics; D015022:Yugoslavia / Q000453:epidemiology
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; D015534:Trans-Activators; C099930:AFF2 protein, human; C497683:FMR1 protein, human