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Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients |
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| Authors: | Kristin Eiklid,Lisbeth Tranebjæ rg,Hans G. Eiken,Jan C. Pedersen,Helge Michalsen,Gjermund Fluge,Marianne Schwartz,Bjø rn R. Nilsen,Roald Bolle,Dag Skyberg,Helge Boman,Kare Berg |
| Affiliation: | Department of Medical Genetics, Ulleval University Hospital, Blindem, Oslo;Polar Institute of Medical Genetics, Regional Hospital, Tromsø;Department of Medical Genetics, Haukeland Hospital, Bergen;Department of Pediatrics, Aker Hospital, Oslo;Department of Pediatrics, Haukeland Hospital, Bergen, Norway;Section of Clinical Genetics, University Hospital, Copenhagen, Denmark;Department of Pediatrics, Nordland Hospital, Bodø;Department of Pediatrics, Aust-Agder Hospital, Arendal, Norway |
| Abstract: | Eiklid K, Tranebjærg L, Eiken HG, Pedersen JC, Michalsen H, Fluge G, Schwartz M, Nilsen BR, Bolle R, Skyberg D, Boman H, Berg K. Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients. Clin Genet 1993: 44: 12–14. © Munksgaard, 1993 We have searched for the ΔF508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the ΔF508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus. |
| Keywords: | cystic fibrosis exon 11 mutations ΔF508 mutation |