caa a22 4500 467985464 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428277 doi (NATIONALLICENCE)springer-10.1007/BF02428277 Association between XV2c/CS7/KM19/D9 haplotypes and the ΔF508 mutation A study of 57 Belgian families [Elektronische Daten] [Harry Cuppens, Eric egius, Pablo Cabello, Peter Marynen, Chris De Boeck, Ronny Decorte, Jean-Pierre Fryns, Ephraim Eggermont, Herman Van den Berghe, Jean-Jacques Cassiman] Summary: 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 ΔF508 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 ΔF508 deletion. Both the ΔF508 deletion and another mutation(s) showed strong association with the haplotype 1-2-2-2. Springer-Verlag, 1990 Cuppens Harry Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut egius Eric Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut Cabello Pablo Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut Marynen Peter Division of Pediatrics, University Hospital, Leuven, Belgium aut De Boeck Chris Division of Pediatrics, University Hospital, Leuven, Belgium aut Decorte Ronny Division of Pediatrics, University Hospital, Leuven, Belgium aut Fryns Jean-Pierre Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut Eggermont Ephraim Division of Pediatrics, University Hospital, Leuven, Belgium aut Van den Berghe Herman Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut Cassiman Jean-Jacques Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut Human Genetics Springer-Verlag 85/4(1990-09-01), 402-403 0340-6717 85:4<402 1990 85 439 https://doi.org/10.1007/BF02428277 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428277 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Cuppens Harry Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut NATIONALLICENCE 700 1- egius Eric Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut NATIONALLICENCE 700 1- Cabello Pablo Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut NATIONALLICENCE 700 1- Marynen Peter Division of Pediatrics, University Hospital, Leuven, Belgium aut NATIONALLICENCE 700 1- De Boeck Chris Division of Pediatrics, University Hospital, Leuven, Belgium aut NATIONALLICENCE 700 1- Decorte Ronny Division of Pediatrics, University Hospital, Leuven, Belgium aut NATIONALLICENCE 700 1- Fryns Jean-Pierre Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut NATIONALLICENCE 700 1- Eggermont Ephraim Division of Pediatrics, University Hospital, Leuven, Belgium aut NATIONALLICENCE 700 1- Van den Berghe Herman Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut NATIONALLICENCE 700 1- Cassiman Jean-Jacques Center for Human Genetics, University of Leuven, Campus Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 402-403 0340-6717 85:4<402 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer