Close Linkage of the Wilson's Disease Locus to D13S12 in the Chromosomal Region 13q21 and Not to ESD in 13q14

Overview

Journal Hum Genet

Specialty Genetics

Date 1990 Oct 1

PMID 2227943

Citations 6

Authors

R H Houwen

H Scheffer

G J Te Meerman

P van der Vlies

C H Buys

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

The history of Wilson disease.

Dooley J Clin Liver Dis (Hoboken). 2024; 23(1):e0238.

PMID: 38974753 PMC: 11227348. DOI: 10.1097/CLD.0000000000000238.

Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13.

Kooy R, van der Veen A, Verlind E, Houwen R, Scheffer H, Buys C Hum Genet. 1993; 91(5):504-6.

PMID: 8314565 DOI: 10.1007/BF00217780.

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 Proc Natl Acad Sci U S A. 1993; 90(21):10105-9.

PMID: 8234264 PMC: 47722. DOI: 10.1073/pnas.90.21.10105.

Polymorphic microsatellites and Wilson disease (WD).

Stewart E, White A, Tomfohrde J, Osborne-Lawrence S, Prestridge L, Bonne-Tamir B Am J Hum Genet. 1993; 53(4):864-73.

PMID: 8213814 PMC: 1682397.

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

Scheffer H, Houwen R, Te Meerman G, Loessner J, Bachmann B, Kunert E Hum Genet. 1992; 89(6):607-11.

PMID: 1511977 DOI: 10.1007/BF00221947.

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