caa a22 4500 467985545 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428271 doi (NATIONALLICENCE)springer-10.1007/BF02428271 The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population [Elektronische Daten] [Maryse Bonduelle, Willy Lissens, Anne Malfroot, Isi Dab, Inge Liebaers] Summary: The cystic fibrosis (CF) gene deletion F508 was studied in a Belgian population of 74 families and their 83 CF children. The haplotypes for CF and normal chromosomes had previously been determined with several linked DNA probes. In our CF population, the gene deletion F508 was found in 76% of the mutant alleles. Of the deletion F508, 97% segregated with the highest risk haplotype for the CF carrier status. Some 61% of our families were found to be homozygous for this major CF mutation. Each of our three pancreatic sufficiency patients (two of whom were siblings) was heterozygote for the F508 deletion. Springer-Verlag, 1990 Bonduelle Maryse Department of Medical Genetics University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut Lissens Willy Department of Medical Genetics University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut Malfroot Anne Department of Pediatrics, University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut Dab Isi Department of Pediatrics, University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut Liebaers Inge Department of Medical Genetics University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut Human Genetics Springer-Verlag 85/4(1990-09-01), 395-396 0340-6717 85:4<395 1990 85 439 https://doi.org/10.1007/BF02428271 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428271 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bonduelle Maryse Department of Medical Genetics University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut NATIONALLICENCE 700 1- Lissens Willy Department of Medical Genetics University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut NATIONALLICENCE 700 1- Malfroot Anne Department of Pediatrics, University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut NATIONALLICENCE 700 1- Dab Isi Department of Pediatrics, University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut NATIONALLICENCE 700 1- Liebaers Inge Department of Medical Genetics University Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 395-396 0340-6717 85:4<395 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer