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

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 proxim...

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Bibliographic Details
Published in:Human genetics 1993-06, Vol.91 (5), p.504-506
Main Authors: KOOY, R. F, VAN DER VEEN, A. Y, VERLIND, E, HOUWEN, R. H. J, SCHEFFER, H, BUYS, C. H. C. M
Format: Article
Language:English
Subjects:
Animals
Base Sequence
Biological and medical sciences
chromosome 13
Chromosome Mapping - methods
Chromosomes, Human, Pair 13
Cricetinae
DNA Mutational Analysis
Gene Deletion
gene mapping
genes
genetic markers
Hepatolenticular Degeneration - genetics
Humans
Hybrid Cells
In Situ Hybridization, Fluorescence
man
Medical sciences
Metabolic diseases
Metals (hemochromatosis...)
Molecular Sequence Data
Other metabolic disorders
Polymerase Chain Reaction
Wilson's disease
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Summary: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:).
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00217780