The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families

E K Watson; E S Mayall; L Simova; E M Thompson; J O Warner; R Williamson; C Williams

doi:10.1007/BF02428303

The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families

Hum Genet. 1990 Sep;85(4):435-6. doi: 10.1007/BF02428303.

Authors

E K Watson¹, E S Mayall, L Simova, E M Thompson, J O Warner, R Williamson, C Williams

Affiliation

¹ Regional DNA Laboratory, St. Mary's Hospital Medical School, London, UK.

PMID: 2210766
DOI: 10.1007/BF02428303

Abstract

Data are presented for delta F508 screening and KM19/XV2c haplotype analysis of 195 cystic fibrosis (CF) chromosomes from the British Caucasian population. We report the frequency of delta F508 in this group to be 80% and find pronounced disequilibrium between the deletion and the KM 2, XV 1 haplotype. Haplotype analysis of 71 normal chromosomes is also presented. We report one individual who had meconium ileus and who does not have the delta F508 mutation on either chromosome.

MeSH terms

Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
England / epidemiology
Haplotypes
Humans
Mutation*