Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1994 Jan;54(1):71-8.

Haplotype studies in Wilson disease

G R Thomas  1 , P C Bull, E A Roberts, J M Walshe, D W Cox
Affiliations

Haplotype studies in Wilson disease

G R Thomas et al. Am J Hum Genet. 1994 Jan.

Abstract

In 51 families with Wilson disease, we 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, we have developed three new highly polymorphic markers (D13S314, D13S315, and D13S316) close to the WND locus. We 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. We 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.

PubMed Disclaimer

References

    1. Nat Genet. 1992 May;1(2):99-103 - PubMed
    1. Cytogenet Cell Genet. 1993;64(1):12-7 - PubMed
    1. J Hepatol. 1993 Mar;17(3):269-76 - PubMed
    1. Genomics. 1993 Jun;16(3):593-8 - PubMed
    1. Am J Med. 1956 Oct;21(4):487-95 - PubMed

Publication types

LinkOut - more resources