Hum Biol. 2008 Dec;80(6):593-600.

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

Arrieta I, Télez M, Huerta I, Flores P, Criado B, Ramírez JM, Barasoain M, Gónzalez AJ.

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

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.

PMID: 19728537 [PubMed - indexed for MEDLINE]

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Supplemental Content

A new insight into fragile X syndrome among Basque population.
Am J Med Genet A. 2004 Jul 30; 128A(3):250-5.

[Am J Med Genet A. 2004]
Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.
Eur J Hum Genet. 2001 Sep; 9(9):724-7.

[Eur J Hum Genet. 2001]
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.
Hum Mol Genet. 1996 Mar; 5(3):319-30.

[Hum Mol Genet. 1996]
ReviewFMR1 and the fragile X syndrome: human genome epidemiology review.
Genet Med. 2001 Sep-Oct; 3(5):359-71.

[Genet Med. 2001]
ReviewAn assessment of screening strategies for fragile X syndrome in the UK.
Health Technol Assess. 2001; 5(7):1-95.

[Health Technol Assess. 2001]
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