Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes

• Published in: Human mutation Vol. 2; no. 5; p. 389
• Main Authors: Gasparini, P, Marigo, C, Bisceglia, G, Nicolis, E, Zelante, L, Bombieri, C, Borgo, G, Pignatti, P F, Cabrini, G
• Format: Journal Article
• Language: English
• Published: United States 1993
• Subjects: Adolescent; Cohort Studies; Cystic Fibrosis - epidemiology; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator; Female; Gene Frequency - genetics; Genetic Testing; Genotype; Humans; Incidence; Italy - epidemiology; Male; Membrane Proteins - genetics; Mutation - genetics; Italy
• ISSN: 1059-7794
• DOI: 10.1002/humu.1380020511

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.