Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles
1Department of Genetics, Faculty of Science and Technology, University of the Basque Country, Bilbao, Spain.
Human Biology
|September 5, 2009
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.
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