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Title: Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families
Authors: Cuppens, Harry ×
Legius, Eric
Cabello, P
Marynen, Peter
De Boeck, Christiane
Decorte, Ronny
Fryns, Jean-Pierre
Eggermont, Ephrem
Van den Berghe, Herman
Cassiman, Jean-Jacques #
Issue Date: Sep-1990
Series Title: Human Geneticsvol:85 issue:4 pages:402-3
Abstract: Using Southern blotting and the polymerase chain reaction, the prevalence of the haplotypes for XV2c, CS7, KM19 and D9 on CF and on normal chromosomes could be determined in 35 Belgian families. A set of primers complementary to the DNA sequence of the CF gene around the delta F508 deletion was used to amplify this particular segment of the gene. In a total of 57 families, deletion screening showed that 69 out of 116 CF chromosomes (59.5%) carried the delta F508 deletion. Both the delta F508 deletion and another mutation(s) showed strong association with the haplotype 1-2-2-2.
ISSN: 0340-6717
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Molecular Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Faculty of Medicine - miscellaneous
Pediatric Pulmonology Section (-)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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