Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: Their incidence and clinical features of defined genotypes
✍ Scribed by P. Gasparini; C. Marigo; G. Bisceglia; E. Nicolis; L. Zelante; C. Bombieri; G. Borgo; P. F. Pignatti; G. Cabrini
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 467 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
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. T h e total proportion of CF chromosomes with detectable mutations is 73.78%. Therefore although a considerable improvement in C F 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.