caa a22 4500 467985286 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428296 doi (NATIONALLICENCE)springer-10.1007/BF02428296 Frequency of the ΔF508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without ΔF508 still in disequilibrium [Elektronische Daten] [Hans Scheffer, David Bruinvels, Gerard te Meerman, Edwin Verlind, Dirk Penninga, Jeanette Dankert, Leo Ten Kate, Charles Buys] Summary: We have determined the frequency of the major cystic fibrosis (CF) three base pair deletion (ΔF508) mutation in 152 CF chromosomes from patients originating from the northern part of The Netherlands. In these patients, the deletion represents approximately 76% of CF mutations. Meconium ileus is strongly associated with homozygosity for the ΔF508 mutation. The XV2c,KM19 haplotypes on the CF chromosomes without the ΔF508 mutation are in disequilibrium with the population frequency, although showing an increased frequency of the 1 2 haplotype. The surplus of this haplotype is almost entirely made up by the pancreatic insufficient patients. Springer-Verlag, 1990 Scheffer Hans Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut Bruinvels David Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut te Meerman Gerard Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut Verlind Edwin Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut Penninga Dirk Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut Dankert Jeanette Department of Pediatrics, Free University of Amsterdam, Amsterdam, The Netherlands aut Ten Kate Leo Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut Buys Charles Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut Human Genetics Springer-Verlag 85/4(1990-09-01), 425-427 0340-6717 85:4<425 1990 85 439 https://doi.org/10.1007/BF02428296 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428296 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Scheffer Hans Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut NATIONALLICENCE 700 1- Bruinvels David Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut NATIONALLICENCE 700 1- te Meerman Gerard Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut NATIONALLICENCE 700 1- Verlind Edwin Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut NATIONALLICENCE 700 1- Penninga Dirk Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut NATIONALLICENCE 700 1- Dankert Jeanette Department of Pediatrics, Free University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Ten Kate Leo Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut NATIONALLICENCE 700 1- Buys Charles Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW, Groningen, The Netherlands aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 425-427 0340-6717 85:4<425 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer