title: Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles.
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, XS548/FRAXAC1 haplotypes, and AGG interspersion pattern-are present in the Basque populations analyzed.
authors.affiliation: Department of Genetics, Faculty of Science and Technology, University of the Basque Country, Bilbao, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Arrieta
authors.forename: M
authors.initials: M
authors.lastname: Télez
authors.forename: I
authors.initials: I
authors.lastname: Huerta
authors.forename: P
authors.initials: P
authors.lastname: Flores
authors.forename: B
authors.initials: B
authors.lastname: Criado
authors.forename: J M
authors.initials: JM
authors.lastname: Ramírez
authors.forename: M
authors.initials: M
authors.lastname: Barasoain
authors.forename: A J
authors.initials: AJ
authors.lastname: Gónzalez
mesh_terms: D000483:Alleles; D016009:Chi-Square Distribution; D004268:DNA-Binding Proteins / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D015995:Prevalence; D013030:Spain / Q000453:epidemiology; D018911:Trinucleotide Repeats; D044465:White People / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; C106905:CGGBP1 protein, human