Document Detail


Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.
MedLine Citation:
PMID:  7537148     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVS17bTA and IVS17bCA, located in intron 17b and a CA repeat (IVS8CA) located in intron 8 of the CFTR gene, were analyzed in a large sample of Italian cystic fibrosis (CF) and normal chromosomes. Linkage disequilibrium was evaluated between each marker and difference CF mutations on a total of 377 CF and 358 normal chromosomes. Our results are consistent with the hypothesis that all delta F508 chromosomes derive from a single mutational event. The same hypothesis is valid for mutations G542X, N1303K, 1717-1G-->A, which might have been originated more recently than delta F508.
Authors:
M P Russo; G Romeo; M Devoto; G Barbujani; G Cabrini; A Giunta; E D'Alcamo; G Leoni; F Sangiuolo; C Magnani
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human mutation     Volume:  5     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1995  
Date Detail:
Created Date:  1995-05-30     Completed Date:  1995-05-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  23-7     Citation Subset:  IM    
Affiliation:
Istituto Giannina Gaslini, Laboratorio di Genetica Molecolare, Genova, Italy.
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MeSH Terms
Descriptor/Qualifier:
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator
DNA, Satellite / genetics*
Genetics, Population
Haplotypes
Humans
Italy
Linkage Disequilibrium*
Membrane Proteins / genetics
Models, Genetic
Mutation*
Oligodeoxyribonucleotides / genetics
Repetitive Sequences, Nucleic Acid
Chemical
Reg. No./Substance:
0/CFTR protein, human; 0/DNA, Satellite; 0/Membrane Proteins; 0/Oligodeoxyribonucleotides; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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