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Fragile X Gene Stability in Basque Valleys: Prevalence of Premutation and Intermediate Alleless
I. ARRIETA, M. TÉLEZ, I. HUERTA, P. FLORES, B. CRIADO, J. M. RAMÍREZ, M. BARASOAIN and A. J. GÓNZALEZ
Vol. 80, No. 6 (December 2008), pp. 593-600
Published by: Wayne State University Press
Stable URL: http://www.jstor.org/stable/41466571
Page Count: 8
You can always find the topics here!Topics: Alleles, Fragile X syndrome, Haplotypes, Genetic loci, Valleys, Genetic mutation, DNA, Genetic inheritance, Microsatellite repeats, Genetic variation
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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.
Human Biology © 2008 Wayne State University Press