Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain
| Autor: | Yolanda de Diego, Abdelkrim Hmadcha, Francisco Moron, Miguel Lucas, Mercedes Carrasco, Elizabeth Pintado |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2002 |
| Předmět: | |
| Zdroj: | Genetics and Molecular Biology, Vol 25, Iss 1, Pp 01-06 (2002) |
| Druh dokumentu: | article |
| ISSN: | 1415-4757 1678-4685 |
| DOI: | 10.1590/S1415-47572002000100002 |
| Popis: | Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain. We analyzed 322 unrelated patients (280 males and 42 females), and found a fragile X syndrome frequency of 6.5%. Among the non-fragile X chromosomes, the 29 CGG repeat was the most common allele. At the linked microsatellite DXS548 locus, we found a new allele which we called "allele 10" (17 CA). Similar to other south European populations, allele 2 (25 CA) at the DXS548 locus and the fragile X allele were in linkage disequilibrium supporting the idea of a common founder chromosome predisposing to the CGG expansion. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|