This study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic populations of Greece and Cyprus.
The aims of this population screening were to determine the prevalence of FRAXA and FRAXE syndromes among idiopathic mentally retarded (IMR) individuals, to estimate the incidence in the general population, and to investigate the molecular mechanism of instability and expansion of the FMR1-repeat.
Ten FRAXA patients were identified to have either the full mutation (eight) or premutation (two) from a Hellenic population of 866 unrelated IMR individuals (611 males and 255 females, age range 3-25 years).
No FRAXE patients were identified among the 611 IMR males.
The incidence of FRAXA in the Hellenic population of Cyprus is estimated at 1 in 4,246 males.
The repeat sites from the FMRI and FMR2 alleles were accurately determined and showed similar distribution and frequencies with other population studies.
The analysis of AGG interspersion within the FMR1-repeat in normal males revealed long, pure CGG repeats within the « gray zone » as well as variation within the 3'end showing polarity of instability.
This finding supports the hypothesis that the AGG interspersion and the length of the pure repeat are major factors in determining allele stability. (...)
Mots-clés Pascal : X fragile syndrome, Homme, Grèce, Europe, Chypre, Asie, Dépistage, Diagnostic, Epidémiologie, Prévalence, Caractère lié au sexe, Déficience intellectuelle, Maladie héréditaire, Chromosome X, Biologie moléculaire, Fragilité chromosomique
Mots-clés Pascal anglais : Fragile X syndrome, Human, Greece, Europe, Cyprus, Asia, Medical screening, Diagnosis, Epidemiology, Prevalence, Sex linked character, Intellectual deficiency, Genetic disease, X-Chromosome, Molecular biology, Chromosome fragility
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0330029
Code Inist : 002B23C. Création : 16/11/1999.