Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.
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.
Eiklid
K
K
Department of Medical Genetics, Ullevål University Hospital, Blindern, Oslo, Norway.
Tranebjaerg
L
L
Eiken
H G
HG
Pedersen
J C
JC
Michalsen
H
H
Fluge
G
G
Schwartz
M
M
Nilsen
B R
BR
Bolle
R
R
Skyberg
D
D
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009664:Norway; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator