The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland

I McIntosh; A Curtis; M L Lorenzo; M Keston; A J Gilfillan; G Morris; D J Brock

doi:10.1007/BF02428290

The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland

Hum Genet. 1990 Sep;85(4):419-20. doi: 10.1007/BF02428290.

Authors

I McIntosh¹, A Curtis, M L Lorenzo, M Keston, A J Gilfillan, G Morris, D J Brock

Affiliation

¹ Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.

PMID: 2210756
DOI: 10.1007/BF02428290

Abstract

The gene defective in cystic fibrosis (CF) has recently been isolated and the major mutation identified. The haplotype distribution of this mutation (delta F508) has been determined for 215 CF chromosomes in the Scottish population. delta F508 represents 73% of all CF mutations in this group. There remains considerable linkage disequilibrium between XV2c and KM19 and other mutations in the CF gene.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Deletion
Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Gene Frequency
Haplotypes
Humans
Scotland / epidemiology