The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania |
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| Affiliation: | 1. Department of Cell and Molecular Biology, ‘Iuliu Haţieganu’ University of Medicine and Pharmacy, 6 Pasteur Street, 400349 Cluj-Napoca, Romania;2. The Cluj County Hospital, The 1st Laboratory of Genetic Explorations, 6 Pasteur Street, 400349 Cluj-Napoca, Romania;3. Regional Molecular Genetics Service, Department of Medical Genetics, St Mary''s Hospital, Hathersage Road, Manchester M13 0JH, UK;4. The 2nd Pediatrics Clinic ‘Bega'', 1-3 Păltiniş Street, 300226 Timişoara, Romania;5. The 1st Pediatrics Clinic ‘Prof. Dr. Axente Iancu'', Moţilor Street, 400001 Cluj-Napoca, Romania;6. The Institute for Protection of Mother and Child, 120 Lacul Tei Boulevard, 020935 Bucharest, Romania;7. The Hospital ‘Grigore Alexandrescu'', 30-32 Iancu de Hunedoara Street, 011743 Bucharest, Romania |
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| Abstract: | ![]()
BackgroundCystic fibrosis (CF) is produced by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) gene.MethodsOne hundred twenty eight patients with CF were analysed for mutations in the CFTR gene in order to establish the frequency of CF mutations in the Romanian population. The chief methods of analysis were polymerase chain reaction (PCR) of DNA extracted from blood and electrophoresis of PCR products.ResultsThe frequency of F508del in CF chromosomes from Romania is approximately 56.3%. Other frequent mutations noted are: G542X (3.9%), W1282X (2.3%), and CFTRdele2,3(21 kb)(1.6%); the remaining mutations have frequencies below 1%.ConclusionsWe consider that the frequency of F508del in CF patients from Romania is higher than in previous reports, reaching 56.3%, probably owing to more rigorous selection of patients for genetic testing, allowing improved calculation of mutation frequencies. |
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