The major mutation in the cystic fibrosis (CF) gene is a 3-bp deletion (delta F508) in exon 10. About 50% of the CF chromosomes in Southern Europe carry this mutation, while other previously described mutations account for less than 4%. To identify other common mutations in CF patients from the Mediterranean area, we have sequenced, exon by exon, 16 chromosomes that did not show the delta F508 deletion from a selected panel of eight unrelated CF patients. We describe here one missense and one nonsense mutation, and four sequence polymorphisms. We have also found two previously reported mutations in three chromosomes. Overall, these mutations may account for about 20% of CF alleles in the Italian and Spanish populations. No other mutations were detected in 10 out of 16 CF chromosomes after analyzing about 90% of the coding region of the CF gene, and 39 out of 54 intron/exon boundaries. Therefore, about 26% of CF mutations remain to be identified. In addition we provide the intron/exon boundary sequences for exons 4 to 9. These results together with previously reported linkage data suggest that in the Mediterranean populations further mutations may lie in the promoter region, or in intron sequences not yet analyzed.

Gasparini, P., Nunes, V., Savoia, A., Dognini, M., Morral, N., Gaona, A., et al. (1991). The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. GENOMICS, 10(1), 193-200.

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences

SANGIUOLO, FEDERICA CARLA;NOVELLI, GIUSEPPE
1991-05

Abstract

The major mutation in the cystic fibrosis (CF) gene is a 3-bp deletion (delta F508) in exon 10. About 50% of the CF chromosomes in Southern Europe carry this mutation, while other previously described mutations account for less than 4%. To identify other common mutations in CF patients from the Mediterranean area, we have sequenced, exon by exon, 16 chromosomes that did not show the delta F508 deletion from a selected panel of eight unrelated CF patients. We describe here one missense and one nonsense mutation, and four sequence polymorphisms. We have also found two previously reported mutations in three chromosomes. Overall, these mutations may account for about 20% of CF alleles in the Italian and Spanish populations. No other mutations were detected in 10 out of 16 CF chromosomes after analyzing about 90% of the coding region of the CF gene, and 39 out of 54 intron/exon boundaries. Therefore, about 26% of CF mutations remain to be identified. In addition we provide the intron/exon boundary sequences for exons 4 to 9. These results together with previously reported linkage data suggest that in the Mediterranean populations further mutations may lie in the promoter region, or in intron sequences not yet analyzed.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
English
Con Impact Factor ISI
Base Sequence; Chromosome Deletion; Cystic Fibrosis; DNA; DNA Mutational Analysis; Exons; Genetic Variation; Haplotypes; Humans; Italy; Molecular Sequence Data; Spain; Introns; Mutation
Gasparini, P., Nunes, V., Savoia, A., Dognini, M., Morral, N., Gaona, A., et al. (1991). The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. GENOMICS, 10(1), 193-200.
Gasparini, P; Nunes, V; Savoia, A; Dognini, M; Morral, N; Gaona, A; Bonizzato, A; Chillon, M; Sangiuolo, Fc; Novelli, G
Articolo su rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/166553
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