Imperial College London

ProfessorAnneBowcock

Faculty of MedicineNational Heart & Lung Institute

Visiting Professor
 
 
 
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Contact

 

+44 (0)20 7594 1511a.bowcock

 
 
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Location

 

Guy Scadding BuildingRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Bowcock:1994,
author = {Bowcock, AM and Tomfohrde, J and Weissenbach, J and Bonne-Tamir, B and St, George-Hyslop P and Giagheddu, M and Cavalli-Sforza, LL and Farrer, LA},
journal = {Am J Hum Genet},
pages = {79--87},
title = {Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.},
url = {https://www.ncbi.nlm.nih.gov/pubmed/8279473},
volume = {54},
year = {1994}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - Wilson disease (WND) is an autosomal recessive disorder that is due to an inability of the liver to eliminate copper. Copper buildup in the liver, brain, kidney, and other tissues can result in liver cirrhosis, neurologic and psychiatric defects, and other problems. We have localized the disease-containing region to between D13S31 and D13S59, with > 70 multiply affected families, and have constructed a YAC contig of > 4.5 Mb that spans these loci and orders nine highly polymorphic microsatellites. Here we present an analysis of disequilibrium with markers in this interval and provide evidence for strong allelic associations between AFM084xc5 alleles and WND alleles in European, Middle Eastern, and East Asian populations. Significant but weaker allelic associations were also observed between WND alleles and alleles at D13S137 and D13S169. The strength of the association between AFM084xc5 and WND in all non-Sardinian populations combined (linkage-disequilibrium coefficient [phi] = .61) suggests that the number of mutations accounting for WND is less than expected on the basis of the variety of clinical symptoms that are observed.
AU - Bowcock,AM
AU - Tomfohrde,J
AU - Weissenbach,J
AU - Bonne-Tamir,B
AU - St,George-Hyslop P
AU - Giagheddu,M
AU - Cavalli-Sforza,LL
AU - Farrer,LA
EP - 87
PY - 1994///
SN - 0002-9297
SP - 79
TI - Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.
T2 - Am J Hum Genet
UR - https://www.ncbi.nlm.nih.gov/pubmed/8279473
VL - 54
ER -