Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites

Journal Article · Sat Jan 01 04:00:00 EST 1994 · American Journal of Human Genetics; (United States)

OSTI ID:5053050

Bowcock, A M; Tomfohrde, J ^[1]; Weissenbach, J ^[2]; Bonne-Tamir, B; George-Hyslop, P; Giagheddu, M; Cavalli-Sforza, L L; Farrer, L A

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1. Univ. of Texas, Dallas, TX (United States)
2. Genethon, Paris (France)

Wilson disease (WND) is an autosomal recessive disorder that is due to an inability to 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. The authors 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, the authors present an analysis of disequilibrium with markers in this interval and provide evidence for strong allelic associations between AFM084[times]c5 alleles and WND allels 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 AFM084[times]c5 and WND in all non-Sardinian populations combined (linkage-disequilibrium coefficient [[theta]] = .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. 32 refs., 2 figs., 5 tabs.

• OSTI ID: 5053050
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:1; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOLOGICAL ACCUMULATION
BIOLOGICAL MARKERS
CERULOPLASMIN
CHROMOSOMES
COMPLEXES
COPPER
COPPER COMPLEXES
DISEASES
ELEMENTS
GENETIC MAPPING
GLOBULINS
GLOBULINS-ALPHA
HUMAN CHROMOSOME 13
HUMAN CHROMOSOMES
MAPPING
METABOLIC DISEASES
METALLOPROTEINS
METALS
ORGANIC COMPOUNDS
PROTEINS
RFLPS
TRANSITION ELEMENT COMPLEXES
TRANSITION ELEMENTS