Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families.
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.
Cuppens
H
H
Center for Human Genetics, University of Leuven, Belgium.
Legius
E
E
Cabello
P
P
Marynen
P
P
De Boeck
C
C
Decorte
R
R
Fryns
J P
JP
Eggermont
E
E
Van den Berghe
H
H
Cassiman
J J
JJ
D001530:Belgium / Q000453:epidemiology; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans