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

P. Gasparini, V. Nunes, A. Savoia, M. Dognini, N. Morral, A. Gaona, A. Bonizzato, M. Chillon, F. Sangiuolo, G. Novelli, B. Dallapiccola, P. F. Pignatt, X. Estivill

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Abstract

The major mutation in the cystic fibrosis (CF) gene is a 3-bp deletion (ΔF508 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 ΔF508 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.

Original languageEnglish
Pages (from-to)193-200
Number of pages8
JournalGenomics
Volume10
Issue number1
DOIs
Publication statusPublished - May 1991

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ASJC Scopus subject areas

  • Genetics

Cite this

Gasparini, P., Nunes, V., Savoia, A., Dognini, M., Morral, N., Gaona, A., Bonizzato, A., Chillon, M., Sangiuolo, F., Novelli, G., Dallapiccola, B., Pignatt, P. F., & Estivill, X. (1991). The search for South European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequences. Genomics, 10(1), 193-200. https://doi.org/10.1016/0888-7543(91)90500-E