title: Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients.
abstract: Cloning and sequencing of the CF gene has identified a three-base-pair deletion (delta F508) responsible for CF in the majority of CF patients (Kerem et al. 1989). We have used the polymerase chain reaction with oligonucleotide primers bridging the delta F508 deletion to analyze the presence or absence of this mutation in the Belgian CF population. The delta F508 mutation was present in 80% (57 on 71) of CF chromosomes from 36 unrelated Belgian CF families from the region of Antwerp. This mutation was associated with haplotype B for the KM.19-XV-2c RFLPs as 93% (53 on 57) of the CF chromosomes with the delta F508 mutation carried haplotype B.
authors.affiliation: Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.
authors.forename: J G
authors.initials: JG
authors.lastname: Wauters
authors.forename: J
authors.initials: J
authors.lastname: Hendrickx
authors.forename: P
authors.initials: P
authors.lastname: Coucke
authors.forename: L
authors.initials: L
authors.lastname: Vits
authors.forename: K
authors.initials: K
authors.lastname: Stuer
authors.forename: L
authors.initials: L
authors.lastname: van Schil
authors.forename: B J
authors.initials: BJ
authors.lastname: van der Auwera
authors.forename: A
authors.initials: A
authors.lastname: Van Elsen
authors.forename: J
authors.initials: J
authors.lastname: Dumon
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D001530:Belgium / Q000453:epidemiology; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D015345:Oligonucleotide Probes; D010649:Phenylalanine / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015345:Oligonucleotide Probes; D010649:Phenylalanine