Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations

Alberto Bonizzato, Elena Nicolis, Carlo Castellani, Graziella Borgo, Gianni Mastella, Giulio Cabrini, Luigi Bisceglia, Leopoldo Zelante, Paolo Gasparini, Cristina Marigo, Cristina Bombieri, Pier Franco Pignatti

Research output: Contribution to journalArticle

Abstract

A complete coding-region analysis on 225 cystic fibrosis (CF) chromosomes from a cohort that includes all the affected subjects born in two North-Eastern Italian regions over eight years was performed. In a previous study, we identified mutations on 166/225 (73.8%) CF chromosomes after screening for 62 mutations. To characterise the remaining 59 CF chromosomes, we carried out automated direct DNA sequencing (exons 9 and 13), RNA single-strand conformation polymorphism (exons 1-8 and 10-12) and denaturing gradient gel electrophoresis (exons 14a-24) of the 27 exons and flanking regions of the CF transmembrane conductance regulator gene. We identified 22 mutations, four of which are novel, viz. 711+5G→A, R709X, 3132delTG and 2790-2An→G, and we characterised 90.2% (203/225) of the CF chromosomes. Taking advantage of the homogeneity of the sample, an evaluation of the most important clinical parameters, assessed at the age of 12 years, is presented. We confirm some previously reported genotype-phenotype correlations and we report a new nonsense mutation (R709X) associated with a pancreatic sufficient phenotype.

Original languageEnglish
Pages (from-to)397-402
Number of pages6
JournalHuman Genetics
Volume95
Issue number4
DOIs
Publication statusPublished - Apr 1995

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Bonizzato, A., Nicolis, E., Castellani, C., Borgo, G., Mastella, G., Cabrini, G., Bisceglia, L., Zelante, L., Gasparini, P., Marigo, C., Bombieri, C., & Pignatti, P. F. (1995). Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations. Human Genetics, 95(4), 397-402. https://doi.org/10.1007/BF00208963