The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families.
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.
Watson
E K
EK
Regional DNA Laboratory, St. Mary's Hospital Medical School, London, UK.
Mayall
E S
ES
Simova
L
L
Thompson
E M
EM
Warner
J O
JO
Williamson
R
R
Williams
C
C
D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D004739:England / Q000453:epidemiology; D006239:Haplotypes; D006801:Humans; D009154:Mutation