Haplotype studies in Wilson disease

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

OSTI ID:5052743

Thomas, G R; Bull, P C; Roberts, E A; Cox, D W; Walshe, J M ^[1]

---

1. Univ. of Toronto (Canada)

In 51 families with Wilson disease, the authors have studied DNA haplotypes of dinucleotide repeat polymorphisms (CA repeats) in the 13q14.3 region, to examine these markers for association with the Wilson disease gene (WND). In addition to a marker (D13S133) described elsewhere, the authors have developed three new highly polymorphic markers (D13S314, D13S315, and D13S316) close to the WND locus. The authors have examined the distribution of marker alleles at the loci studied and have found that D13S314, D13S133, and D13S316 each show nonrandom distribution on chromosomes carrying the WND mutation. The authors have studied haplotypes of these three markers and have found that there are highly significant differences between WND and normal haplotypes in northern European families. These findings have important implications for mutation detection and molecular diagnosis in families with Wilson disease. 25 refs., 2 figs., 5 tabs.

• OSTI ID: 5052743
• 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
BODY
BRAIN
CENTRAL NERVOUS SYSTEM
CERULOPLASMIN
CHROMOSOMES
COMPLEXES
COPPER
COPPER COMPLEXES
DIGESTIVE SYSTEM
DISEASES
ELEMENTS
GENETIC MAPPING
GLANDS
GLOBULINS
GLOBULINS-ALPHA
HUMAN CHROMOSOME 13
HUMAN CHROMOSOMES
LIVER
MAPPING
METABOLIC DISEASES
METALLOPROTEINS
METALS
NERVOUS SYSTEM
ORGANIC COMPOUNDS
ORGANS
PROTEINS
RFLPS
TRANSITION ELEMENT COMPLEXES
TRANSITION ELEMENTS