Document Detail

The FMR1 CGG repeat and linked microsatellite markers in two Basque valleys.
MedLine Citation:
PMID:  12634803     Owner:  NLM     Status:  MEDLINE    
Fragile X syndrome is associated with an unstable CGG repeat sequence in the 5' untranslated region of the first exon of the FMR1 gene. The present study involved the evaluation of factors implicated in CGG repeat stability in a normal sample from two Basque valleys (Markina and Arratia), to discover whether the Basque population shows allelic diversity and to identify factors involved, by using the data in conjunction with previous findings. The study was based on a sample of 204 and 58 X chromosomes from the Markina and Arratia valleys, respectively. The CGG repeat, the AGG interspersion and two flanking microsatellite markers, FRAXAC1 and DXS548, were examined. In the Markina valley, gray zone alleles (> or =35 CGG repeats) were associated with anchoring AGGs, with the longest 3' pure CGG repeats of the valley (=15), with the 5' instability structure 9+n and with one principal fragile X FRAXAC1-DXS548 haplotype 42-50. In the Arratia valley, gray zone alleles (> or =35 CGG repeats) showed the highest frequency among the Basque samples analyzed, and were associated with anchoring AGGs, with the longest 3' pure repeats (> or =20), with the 5' instability structure 9+n and with one "normal" FRAXAC1-DXS548 haplotype 38-40 (these data from Arratia suggest the existence of a "protective" haplotype). The results showed, on the one hand, differences between Markina and Arratia in factors implicated in CGG repeat instability and, on the other hand, a great similarity between the general Basque sample from Biscay and the Markina valley.
I Arrieta; O Peñagarikano; M Télez; B Ortega; P Flores; B Criado; I Veiga; A L Peixoto; C M Lostao
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Heredity     Volume:  90     ISSN:  0018-067X     ISO Abbreviation:  Heredity     Publication Date:  2003 Mar 
Date Detail:
Created Date:  2003-03-13     Completed Date:  2003-05-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0373007     Medline TA:  Heredity     Country:  England    
Other Details:
Languages:  eng     Pagination:  206-11     Citation Subset:  IM    
Dipartamento Biología Animal y Genética, Facultad de Ciencias, Universidad del País Vasco, Apdo 644, Bilbao 48080, Spain.
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MeSH Terms
Gene Frequency
RNA-Binding Proteins / genetics*
Trinucleotide Repeats*
Reg. No./Substance:
0/FXR1 protein, human; 0/RNA-Binding Proteins

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