Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark

M Schwartz; H K Johansen; C Koch; N J Brandt

doi:10.1007/BF02428297

Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark

Hum Genet. 1990 Sep;85(4):427-8. doi: 10.1007/BF02428297.

Authors

M Schwartz¹, H K Johansen, C Koch, N J Brandt

Affiliation

¹ Section of Clinical Genetics, University Hospital, Rigshopitalet, Copenhagen, Denmark.

PMID: 2210762
DOI: 10.1007/BF02428297

Abstract

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.

MeSH terms

Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Denmark / epidemiology
Gene Frequency
Haplotypes
Humans
Mutation*