Identification of cystic fibrosis transmembrane regulator (CFTR) mutationsin Chilean patients with cystic fibrosis

Citation
G. Repetto et al., Identification of cystic fibrosis transmembrane regulator (CFTR) mutationsin Chilean patients with cystic fibrosis, REV MED CHI, 129(8), 2001, pp. 841-847
Citations number
22
Language
SPAGNOLO
art.tipo
Article
Categorie Soggetti
General & Internal Medicine
Journal title
REVISTA MEDICA DE CHILE
ISSN journal
0034-9887 → ACNP
Volume
129
Issue
8
Year of publication
2001
Pages
841 - 847
Database
ISI
SICI code
0034-9887(200108)129:8<841:IOCFTR>2.0.ZU;2-8
Abstract
Background: Cystic fibrosis (CF) is all autosomal recessive disease caused by mutations in the CFTR gene that codes for a chloride channel located in the apical surface of epithelial cells. The main role of this protein is th e regulation of chloride transport, and secondarily, of sodium and water to the extracellular space. More than 900 gene mutations have been described, and their relative frequency in different populations depends on their eth nic origin. Aim: To report the findings of Chilean patients with cystic fib rosis, in whom the presence of 20 common mutations was analyzed. Patients a nd methods: Fifty seven patients with established diagnosis or suspicion of CF, were studied. The simultaneous identification of 20 mutations and the normal Delta F508 allele was done using polymerase chain reactions with a c ommercial assay. Results: Eight mutations were found. Fifty patients fulfil led diagnostic criteria proposed by the Consensus Panel of the CF Foundatio n and 66% of alleles were identified in this group. Delta F508 mutation was found in 45%. We did not identify mutations in any of the remaining 7 pati ents. Conclusions: Our results suggest that the majority of undetected muta tions are associated with atypical phenotypes or that some patients in this series could have other diseases. We recommend to include mutation analysi s in the evaluation of Chilean patients with CF. It is useful to establish prognosis and genetic counselling (Rev Med Chile 2001; 129: 841-7).