Frequency of the Delta F508 Mutation on Cystic Fibrosis Chromosomes in Denmark

Hum Genet. 1990 Sep;85(4):427-8. 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*