Fragile X Gene Stability in Basque Valleys
Prevalence of Premutation and Intermediate Alleles
Bibliographic Data
| ID | 6067286 |
|---|---|
| Authors | I Arrieta, I González De Arrieta (0000-0001-6984-5149, University of the Basque Country), Mercedes Télez, I Huerta (0009-0001-0782-6695), Piedad Flores, B Criado, Maria Begoña Criado (0000-0003-1750-5614), J M Ramírez (0000-0003-2593-6828), Juanma Ramírez (0000-0002-8500-7521), Maitane Barasoain (0000-0002-9142-4161), A J Gónzalez |
| Year | 2008 |
| Volume | 80 |
| Issue | 6 |
| Pages | 593-600 |
| Publication date | 2008-12-01 |
| Open Access | No |
| Type | ARTICLE |
| Venue | Human Biology (JOURNAL) |
| Journal identifiers | ISSN: 0018-7143 • E-ISSN: 1534-6617 |
| Publisher | Human Biology (The International Journal of Population Biology and Genetics) (PUBLISHER) |
| DOI | 10.3378/1534-6617-80.6.593 |
| PMID | 19728537 |
| OpenAlex | W4379531365, W2112056543 |
| Language | EN |
| References cited | 3 |
Fragile X syndrome is the most common form of inherited mental retardation. The molecular basis is usually the unstable expansion of a CGG repeat in the FMR1 gene. We previously analyzed a sample of two Basque valleys. In the present work we extend the study to another five isolated valleys. The results show that differences in factors implicated in CGG repeat instability--CGG repeat size, XS548/FRAXAC1 haplotypes, and AGG interspersion pattern-are present in the Basque populations analyzed
Allele · Biology · Evolutionary biology · FMR1 · Fragile x · Fragile X syndrome · Gene · Haplotype · Autism Spectrum Disorder Research · Congenital heart defects research · Genetics · Genetics and Neurodevelopmental Disorders · Genomic variations and chromosomal abnormalities
| Highly cited | No |
|---|