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

R F Kooy; A Y Van der Veen; E Verlind; R H Houwen; H Scheffer; C H Buys

doi:10.1007/BF00217780

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

Hum Genet. 1993 Jun;91(5):504-6. doi: 10.1007/BF00217780.

Authors

R F Kooy¹, A Y Van der Veen, E Verlind, R H Houwen, H Scheffer, C H Buys

Affiliation

¹ Department of Medical Genetics, University of Groningen, The Netherlands.

PMID: 8314565
DOI: 10.1007/BF00217780

Abstract

D13S31 is the marker closest to the Wilson disease locus according to genetic analysis. Its physical localisation was refined by fluorescent in situ hybridisation to the junction to chromosomal bands 13q14.3 and 13q21.1. Using polymerase chain reaction analysis, D13S31 and D13S59 (the closest proximal and distal marker, respectively) were found to be located on the end of the der(13) consisting of 13pter-13q14.3: in the somatic cell hybrid ICD, and to be absent from the cell lines WC-H38B3B6 containing a del(13) (13pter-q13::13q21.1-qter) and KSF39 containing a del(13) (13pter-q14.1:).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Animals
Base Sequence
Chromosome Mapping / methods
Chromosomes, Human, Pair 13*
Cricetinae
DNA Mutational Analysis
Gene Deletion*
Hepatolenticular Degeneration / genetics*
Humans
Hybrid Cells
In Situ Hybridization, Fluorescence
Molecular Sequence Data
Polymerase Chain Reaction