title: Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.
abstract: 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.affiliation: Istituto Giannina Gaslini, Laboratorio di Genetica Molecolare, Genova, Italy.
authors.forename: M P
authors.initials: MP
authors.lastname: Russo
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: G
authors.initials: G
authors.lastname: Barbujani
authors.forename: G
authors.initials: G
authors.lastname: Cabrini
authors.forename: A
authors.initials: A
authors.lastname: Giunta
authors.forename: E
authors.initials: E
authors.lastname: D'Alcamo
authors.forename: G
authors.initials: G
authors.lastname: Leoni
authors.forename: F
authors.initials: F
authors.lastname: Sangiuolo
authors.forename: C
authors.initials: C
authors.lastname: Magnani
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004276:DNA, Satellite / Q000235:genetics*; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics; D008957:Models, Genetic; D009154:Mutation; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: C505032:CFTR protein, human; D004276:DNA, Satellite; D008565:Membrane Proteins; D009838:Oligodeoxyribonucleotides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator