The Japanese Journal of Genetics
Online ISSN : 1880-5787
Print ISSN : 0021-504X
ISSN-L : 0021-504X
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Deletion of the Wilson's disease gene in hereditary hepatitis LEC rats
Takao ONORisaku FUKUMOTOYasumitsu KONDOHMichihiro C. YOSHIDA
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1995 Volume 70 Issue 1 Pages 25-33

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Abstract

LEC rats develop disorder of copper metabolism and hepatitis similar to those of human Wilson's disease. We recently demonstrated that the gene responsible for hepatitis (hts) of LEC rats is homologous to Wilson's disease gene (WD). The present study showed a deletion of at least 90 base pair of WD cDNA in LEC rats, which corresponds to nucleotides 3981 to 4071 in human WD cDNA sequence. This deletion was linked with hepatic copper accumulation and hepatitis, and considered to be a primary mutation for hepatic disorder in the LEC rat. The WD gene was assigned to rat chromosome 16 at band q12.2-q12.4 by fluorescence in situ hybridization (FISH).

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© 1995 by The Genetics Society of Japan
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