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PMID: 2210747 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families.

Human genetics ·Vol. 85 ·No. 4 ·1990-09-00 ·Pages 402-3

Cuppens H, Legius E, Cabello P, Marynen P, De Boeck C, Decorte R, Fryns JP, Eggermont E, Van den Berghe H, Cassiman JJ

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.

MeSH Terms
Belgium/epidemiology Chromosome Deletion Cystic Fibrosis/epidemiology,genetics Gene Frequency Haplotypes Humans
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Cuppens H
Center for Human Genetics, University of Leuven, Belgium.
Legius E
Cabello P
Marynen P
De Boeck C
Decorte R
Fryns J P
Eggermont E
Van den Berghe H
Cassiman J J
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1990-09-00
Pages
402-3
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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