Screening of 62 mutations in a cohort of cystic fibrosis patients from North Eastern Italy: Their incidence and clinical features of defined genotypes

P. Gasparini, C. Marigo, G. Bisceglia, E. Nicolis, L. Zelante, C. Bombieri, G. Borgo, P. P. Pignatti, G. Cabrinii

Research output: Contribution to journalArticle

Abstract

The frequency of 62 different CFTR mutations in 225 chromosomes from a CF birth cohort, which includes all the affected subjects born in northeast Italy during a 10-year period of time, was investigated. New mutations were also searched by the analysis of 15 different exons. The total proportion of CF chromosomes with detectable mutations is 73.78%. Therefore although a considerable improvement in CF mutation detection in our population has been achieved, the search for other common and uncommon mutations should be continued. Moreover a carrier screening program should be postponed until reaching a cumulative proportion of known CF alleles of at least 90%. The correlations between the genotypes which have been identified and the main clinical features added some new information to the classification of CF mutations as pancreatically severe or mild ones.

Original languageEnglish
Pages (from-to)389-394
Number of pages6
JournalHuman Mutation
Volume2
Issue number5
Publication statusPublished - 1993

Keywords

  • Cystic fibrosis
  • Genotype-phenotype relationships
  • Screening

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Gasparini, P., Marigo, C., Bisceglia, G., Nicolis, E., Zelante, L., Bombieri, C., Borgo, G., Pignatti, P. P., & Cabrinii, G. (1993). Screening of 62 mutations in a cohort of cystic fibrosis patients from North Eastern Italy: Their incidence and clinical features of defined genotypes. Human Mutation, 2(5), 389-394.