Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark.
We have investigated the frequency of the delta F508 mutation on cystic fibrosis (CF) chromosomes in Denmark. Of 304 chromosome tested, 86.8% have the delta F508 mutation. The majority of the chromosomes with this mutation are found on chromosomes with the XV2c/KM19 haplotype B (97.3%), whereas 15/16 chromosomes with haplotype C have another mutation, confirming that only very few mutations will account for the majority of CF genes in the Danish population.
Section of Clinical Genetics, University Hospital, Rigshopitalet, Copenhagen, Denmark.
M
M
Schwartz
H K
HK
Johansen
C
C
Koch
N J
NJ
Brandt
D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D003718:Denmark / Q000453:epidemiology; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D009154:Mutation