Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles

I Arrieta; M Télez; I Huerta; P Flores; B Criado; J M Ramírez; M Barasoain; A J Gónzalez

doi:10.3378/1534-6617-80.6.593

Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles

Hum Biol. 2008 Dec;80(6):593-600. doi: 10.3378/1534-6617-80.6.593.

Authors

I Arrieta¹, M Télez, I Huerta, P Flores, B Criado, J M Ramírez, M Barasoain, A J Gónzalez

Affiliation

¹ Department of Genetics, Faculty of Science and Technology, University of the Basque Country, Bilbao, Spain.

PMID: 19728537
DOI: 10.3378/1534-6617-80.6.593

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Chi-Square Distribution
DNA-Binding Proteins / genetics
Fragile X Mental Retardation Protein / genetics
Fragile X Syndrome / epidemiology
Fragile X Syndrome / ethnology
Fragile X Syndrome / genetics*
Gene Frequency / genetics
Genetic Markers / genetics
Haplotypes / genetics
Humans
Male
Prevalence
Spain / epidemiology
Trinucleotide Repeats
White People / genetics

Substances

CGGBP1 protein, human
DNA-Binding Proteins
Genetic Markers
Fragile X Mental Retardation Protein