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.

Russo, M.p., Romeo, G., Devoto, M., Barbujani, G., Cabrini, G., Giunta, A., et al. (1995). Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. HUMAN MUTATION, 5(1), 23-27 [10.1002/humu.1380050103].

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population

SANGIUOLO, FEDERICA CARLA;
1995

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.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
English
Con Impact Factor ISI
Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; DNA, Satellite; Genetics, Population; Haplotypes; Humans; Italy; Membrane Proteins; Models, Genetic; Oligodeoxyribonucleotides; Repetitive Sequences, Nucleic Acid; Linkage Disequilibrium; Mutation
Russo, M.p., Romeo, G., Devoto, M., Barbujani, G., Cabrini, G., Giunta, A., et al. (1995). Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. HUMAN MUTATION, 5(1), 23-27 [10.1002/humu.1380050103].
Russo, M; Romeo, G; Devoto, M; Barbujani, G; Cabrini, G; Giunta, A; D'Alcamo, E; Leoni, G; Sangiuolo, Fc; Magnani, C; Cremonesi, L; Ferrari, M
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/166531
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