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Comparative Study
. 1985 Mar;82(6):1819-21.
doi: 10.1073/pnas.82.6.1819.

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus

M Frydman, B Bonné-Tamir, L A Farrer, P M Conneally, A Magazanik, S Ashbel, Z Goldwitch
Comparative Study

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus

M Frydman et al. Proc Natl Acad Sci U S A. 1985 Mar.

Abstract

Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a large inbred kindred with affected individuals in two generations. Also, serum copper and ceruloplasmin were measured on all available members. Close linkage (theta = 0.06) with a logarithm of odds (lod) score of 3.21 was found between the gene for WD and the esterase D locus. Efficient detection of linkage was made possible by the use of a multisibship inbred pedigree. The discovery of a polymorphic marker genetically linked to the WD locus has profound implications both for investigation of the primary gene defect and for clinical services.

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References

    1. Am J Hum Genet. 1972 Nov;24(6 Pt 1):646-66 - PubMed
    1. Q J Med. 1973 Jul;42(167):619-38 - PubMed
    1. Ann Hum Genet. 1975 Jan;38(3):295-303 - PubMed
    1. Hum Hered. 1975;25(2):95-105 - PubMed
    1. Birth Defects Orig Artic Ser. 1975;11(3):99-102 - PubMed

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