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 language | English |
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Pages (from-to) | 389-394 |
Number of pages | 6 |
Journal | Human Mutation |
Volume | 2 |
Issue number | 5 |
Publication status | Published - 1993 |
Keywords
- Cystic fibrosis
- Genotype-phenotype relationships
- Screening
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)