caa a22 4500 467985642 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428287 doi (NATIONALLICENCE)springer-10.1007/BF02428287 Molecular bases for cystic fibrosis in the Sardinian population [Elektronische Daten] [G. Leoni, C. Rosatelli, R. ardu, G. Scarpa, M. Silvetti, A. Cao] Summary: Cystic fibrosis (CF) is a relatively uncommon genetic disorder in the Sardinian population. In this study, we have defined the frequency of the most common CF mutation (ΔF508) and carried out a genotypephenotype correlation analysis in a group of 21 patients with CF and of Sardinian descent. We detected the ΔF508 mutation in 24 (57%) out of the 42 CF chromosome investigated. This mutation was found in the homozygous state in 9 patients and in the heterozygous state in 6 patients. The remaining 6 patients had other mutations. The ΔF508 mutation was associated only with the KM19/XV2c 2 1 haplotype. Genotype-phenotype correlation analysis did not give clear-cut results, probably because of the small number of patients investigated. However, out of the four patients with meconium ileus, three were homozygous and one was heterozygous for the ΔF508 mutation, confirming that the presence of ΔF508 or other severe mutations in the homozygous state is the prerequisite for the development of meconium ileus. Springer-Verlag, 1990 Leoni G. Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy aut Rosatelli C. Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy aut ardu R. Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy aut Scarpa G. Divisione Pediatria, Ospedale Brotzu, USL 21, I-09100, Cagliari, Italy aut Silvetti M. Divisione Pediatria, Ospedale Brotzu, USL 21, I-09100, Cagliari, Italy aut Cao A. Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy aut Human Genetics Springer-Verlag 85/4(1990-09-01), 415-415 0340-6717 85:4<415 1990 85 439 https://doi.org/10.1007/BF02428287 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428287 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Leoni G. Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy aut NATIONALLICENCE 700 1- Rosatelli C. Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy aut NATIONALLICENCE 700 1- ardu R. Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy aut NATIONALLICENCE 700 1- Scarpa G. Divisione Pediatria, Ospedale Brotzu, USL 21, I-09100, Cagliari, Italy aut NATIONALLICENCE 700 1- Silvetti M. Divisione Pediatria, Ospedale Brotzu, USL 21, I-09100, Cagliari, Italy aut NATIONALLICENCE 700 1- Cao A. Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 415-415 0340-6717 85:4<415 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer