Stability of the FMR1 CGG Repeat in a Basque Sample

The fragile X syndrome is an X-chromosome-linked dominant disorder with reduced penetrance. It is the most common inherited form of mental retardation. The molecular basis is usually the unstable expansion of a CGG trinucleotide repeat in the 5' untranslated region of the first exon of the FMR1...

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Veröffentlicht in:	Human biology 1999-02, Vol.71 (1), p.55-68
Hauptverfasser:	ARRIETA, I., GIL, A., NUÑEZ, T., TELEZ, M., MARTINEZ, B., CRIADO, B., LOSTAO, C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Analysis of Variance Basque people Chromosome Fragile Sites Chromosome Fragility Chromosomes Female Founder effect Fragile X Mental Retardation Protein Fragile X syndrome Fragile X Syndrome - genetics Genetic aspects Genetic loci Genetic mutation Genetics Haplotypes Human biology Humans Intellectual disabilities Intellectual disability Intellectual Disability - genetics Linkage disequilibrium Male Mental retardation Microsatellite repeats Nerve Tissue Proteins - genetics Reference Values RNA-Binding Proteins Selection, Genetic Spain Trinucleotide Repeats X chromosome
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