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Article

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

Annals of human genetics - 1 Mar 2012

Barasoain Maitane, Barrenetxea Gorka, Ortiz-Lastra Eduardo, González Javier, Huerta Iratxe, Télez Mercedes, Ramírez Juan Manuel, Domínguez Amaia, Gurtubay Paula, Criado Begoña, Arrieta Isabel

Abstract excerpt

Fragile X Syndrome (FXS, MIM 309550) is mainly due to the expansion of a CGG trinucleotide repeat sequence, found in the 5' untranslated region of the FMR1 gene. Some studies suggest that stable markers, such as single nucleotide polymorphisms (SNPs) and the study of populations with genetic identity, could provide a distinct advance to investigate the origin of CGG repeat instability. In this study, seven SNPs...

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Share to Fragile X Mental Retardation Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 22211843
DOI: 10.1111/j.1469-1809.2011.00696.x

Genes

ATL1
FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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