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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
Human Biology
Vol. 80, No. 6 (December 2008), pp. 593-600
Stable URL: http://www.jstor.org/stable/41466571
Page Count: 8
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Since scans are not currently available to screen readers, please contact JSTOR User Support for access. We'll provide a PDF copy for your screen reader.
Fragile X Gene Stability in Basque Valleys: Prevalence of Premutation and Intermediate Alleless
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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, XS548IFRAXAC1 haplotypes, and AGG interspersion pattern—are present in the Basque populations analyzed.

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