Fragile X syndrome is recognized as the most common inherited cause of mental retardation in western countries.
The prevalence of the fragile X syndrome in Asian populations is uncertain.
We report a multiinstitutional collaborative study of molecular screening for the fragile X syndrome from 1,127 Chinese mentally retarded (MR) individuals.
We found that 2.8% of the Chinese MR population screened by DNA analysis had the fragile X full mutation.
Our screening indicated that the fragile X syndrome prevalence was very close to that of Caucasian subjects.
In addition, we found that 62.5% of fragile X chromosomes had a single haplotype for DXS548-FRAXAC1 (21-18 repeats) which was present in only 9.7% of controls.
This unique distribution of microsatellite markers flanking the FMR1 CGG repeats suggests that the fragile X syndrome in Chinese populations, as in the Caucasian, may also be derived from founder chromosomes.
Mots-clés Pascal : X fragile syndrome, Chinois, Chine, Asie, Epidémiologie, Etude comparative, Déficience intellectuelle, Caucasoïde, Effet fondateur, Prévalence, Fragilité chromosomique, Maladie héréditaire
Mots-clés Pascal anglais : Fragile X syndrome, Chinese, China, Asia, Epidemiology, Comparative study, Intellectual deficiency, Caucasoid, Founder effect, Prevalence, Chromosome fragility, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0330031
Code Inist : 002B23C. Création : 16/11/1999.