Hum Genet. 1992 Aug;89(6):607-11.

Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene.

Scheffer H, Houwen RH, Te Meerman GJ, Loessner J, Bachmann B, Kunert E, Verlind E, Buys CH.

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Department of Medical Genetics, University of Groningen, The Netherlands.

Abstract

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. A minimum recombinant analysis using D13S22, ESD, RB1, D13S31, D13S55, D13S26, D13S39, and D13S12, all localized at 13q14-q22, has been carried out in 20 WD families of Northwest-European origin. No inconsistencies have been observed with respect to locus order or location of the WD locus (WND) compared with previous linkage studies. D13S31 was mapped as the closest marker proximal to WND, whereas D13S55 and D13S26 were mapped as the closest markers distal to WND. We have identified a crossover between WND and D13S31 in one family and a crossover between WND and D13S55 in another. These crossover sites can be used as reference points for new chromosome 13q14-q21 markers, and are therefore important for a more accurate mapping of the WD locus.

PMID:: 1511977; [PubMed - indexed for MEDLINE]

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Eight closely linked loci place the Wilson disease locus within 13q14-q21. [Am J Hum Genet. 1988]
Eight closely linked loci place the Wilson disease locus within 13q14-q21.
Bowcock AM, Farrer LA, Hebert JM, Agger M, Sternlieb I, Scheinberg IH, Buys CH, Scheffer H, Frydman M, Chajek-Saul T. Am J Hum Genet. 1988 Nov; 43(5):664-74.
Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14. [Hum Genet. 1990]
Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14.
Houwen RH, Scheffer H, te Meerman GJ, van der Vlies P, Buys CH. Hum Genet. 1990 Oct; 85(5):560-2.
A 4.5-megabase yeast artificial chromosome contig from human chromosome 13q14.3 ordering 9 polymorphic microsatellites (22 sequence-tagged sites) tightly linked to the Wilson disease locus. [Proc Natl Acad Sci U S A. 1993]
A 4.5-megabase yeast artificial chromosome contig from human chromosome 13q14.3 ordering 9 polymorphic microsatellites (22 sequence-tagged sites) tightly linked to the Wilson disease locus.
White A, Tomfohrde J, Stewart E, Barnes R, Le Paslier D, Weissenbach J, Cavalli-Sforza L, Farrer L, Bowcock A. Proc Natl Acad Sci U S A. 1993 Nov 1; 90(21):10105-9.
Review [Wilson disease: clinical and biological aspects]. [Ann Biol Clin (Paris). 2005]
Review [Wilson disease: clinical and biological aspects].
Chappuis P, Bost M, Misrahi M, Duclos-Vallée JC, Woimant F. Ann Biol Clin (Paris). 2005 Sep-Oct; 63(5):457-66.
Review Genetic aspects of Wilson's disease. [J Gastroenterol Hepatol. 1990]
Review Genetic aspects of Wilson's disease.
Frydman M. J Gastroenterol Hepatol. 1990 Jul-Aug; 5(4):483-90.

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Cited by 1 PubMed Central article

Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites. [Am J Hum Genet. 1994]
Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.
Bowcock AM, Tomfohrde J, Weissenbach J, Bonne-Tamir B, St George-Hyslop P, Giagheddu M, Cavalli-Sforza LL, Farrer LA. Am J Hum Genet. 1994 Jan; 54(1):79-87.

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