Fragile X Gene Stability in Basque Valleys: Prevalence of Premutation and Intermediate Alleless

Fragile X Gene Stability in Basque Valleys: Prevalence of Premutation and Intermediate Alleless

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 res...

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Veröffentlicht in:Human biology 2008-12, Vol.80 (6), p.593-600
Hauptverfasser: ARRIETA, I., TÉLEZ, M., HUERTA, I., FLORES, P., CRIADO, B., RAMÍREZ, J. M., BARASOAIN, M., GÓNZALEZ, A. J.
Format: Artikel
Sprache:eng
Schlagworte:
Alleles
DNA
Fragile X syndrome
Genetic inheritance
Genetic loci
Genetic mutation
Genetic variation
Haplotypes
Microsatellite repeats
Valleys
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Zusammenfassung: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, XS548IFRAXAC1 haplotypes, and AGG interspersion pattern—are present in the Basque populations analyzed.
ISSN:0018-7143
1534-6617