Cystic fibrosis haplotype association and the delta F508 mutation in adult British CF patients

Hum Genet. 1990 Sep;85(4):424-5. doi: 10.1007/BF02428295.

Abstract

The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ileus were homozygous for the deletion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Haplotypes
  • Humans
  • Mutation*
  • United Kingdom / epidemiology