Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients

K Eiklid; L Tranebjaerg; H G Eiken; J C Pedersen; H Michalsen; G Fluge; M Schwartz; B R Nilsen; R Bolle; D Skyberg

doi:10.1111/j.1399-0004.1993.tb03834.x

Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients

Clin Genet. 1993 Jul;44(1):12-4. doi: 10.1111/j.1399-0004.1993.tb03834.x.

Authors

K Eiklid¹, L Tranebjaerg, H G Eiken, J C Pedersen, H Michalsen, G Fluge, M Schwartz, B R Nilsen, R Bolle, D Skyberg, et al.

Affiliation

¹ Department of Medical Genetics, Ullevål University Hospital, Blindern, Oslo, Norway.

PMID: 7691448
DOI: 10.1111/j.1399-0004.1993.tb03834.x

Abstract

We have searched for the delta F508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the delta F508 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.

MeSH terms

Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
Exons / genetics*
Gene Frequency
Genetic Carrier Screening
Genotype
Haplotypes
Humans
Membrane Proteins / genetics*
Mutation*
Norway
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Substances

CFTR protein, human
Membrane Proteins
Cystic Fibrosis Transmembrane Conductance Regulator