caa a22 4500 467985715 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194238 doi (NATIONALLICENCE)springer-10.1007/BF00194238 Close linkage of the Wilsons's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14 [Elektronische Daten] [Roderick Houwen, Hans Scheffer, Gerard te Meerman, Pieter van der Vlies, Charles Buys] Summary: Wilson's disease (WD) is an autosomal recessive disorder resulting in copper accumulation notably in liver and brain tissue. Linkage of the WD locus (WND) to ESD at 13q14 was first shown by studies in families of Middle Eastern origin using the isozymic polymorphism of esterase D. Using RFLPs detected by the ESD cDNA we could not confirm this reported close linkage in an analysis of 17 WD families of northwest European origin. A tight linkage was detected, however, to the marker D13S12, located more distally at 13q21. No obligate cross-overs were detected in 63 gametes informative for this marker. Our data confirm an assignment of WND to 13q14-21. Its localization, however, seems to be more distal to ESD than previously reported. Although genetic heterogeneity cannot be excluded, the observed differences between the two populations are probably due to random variation. Springer-Verlag, 1990 Houwen Roderick Department of Pediatrics, University of Groningen, Antonius Deusinglaan 4, NL-9713, AW Groningen, The Netherlands aut Scheffer Hans 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 van der Vlies Pieter 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 85/5(1990-10-01), 560-562 0340-6717 85:5<560 1990 85 439 https://doi.org/10.1007/BF00194238 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194238 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Houwen Roderick Department of Pediatrics, University of Groningen, Antonius Deusinglaan 4, NL-9713, AW Groningen, The Netherlands aut 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- te Meerman Gerard Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713, AW Groningen, The Netherlands aut NATIONALLICENCE 700 1- van der Vlies Pieter 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 85/5(1990-10-01), 560-562 0340-6717 85:5<560 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer