The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population

M Bonduelle; W Lissens; A Malfroot; I Dab; I Liebaers

doi:10.1007/BF02428271

The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population

Hum Genet. 1990 Sep;85(4):395-6. doi: 10.1007/BF02428271.

Authors

M Bonduelle¹, W Lissens, A Malfroot, I Dab, I Liebaers

Affiliation

¹ Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Belgium.

PMID: 2210742
DOI: 10.1007/BF02428271

Abstract

The cystic fibrosis (CF) gene deletion F508 was studied in a Belgian population of 74 families and their 83 CF children. The haplotypes for CF and normal chromosomes had previously been determined with several linked DNA probes. In our CF population, the gene deletion F508 was found in 76% of the mutant alleles. Of the deletion F508, 97% segregated with the highest risk haplotype for the CF carrier status. Some 61% of our families were found to be homozygous for this major CF mutation. Each of our three pancreatic sufficiency patients (two of whom were siblings) was heterozygote for the F508 deletion.

Publication types

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

MeSH terms

Belgium / epidemiology
Chromosome Deletion*
Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Gene Frequency
Humans