Document Detail


Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
MedLine Citation:
PMID:  16649058     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Wilson disease (WD) is the most common disorder resulting in hepatic copper overload. A similar form of copper-associated cirrhosis caused by mutations of the canine copper toxicosis MURR1 gene is also observed in Bedlington terriers. Recent studies indicate that MURR1 might influence human copper metabolism and the clinical presentations of WD. However, the correlation between the MURR1 gene and the Chinese patients with WD has not been reported. In the present study, all three exons of the MURR1 gene including the intron-exon boundaries were directly sequenced in 120 unrelated healthy Chinese and 218 unrelated Chinese patients with WD. No mutations were detected in coding and splice site sequence in the human MURR1 gene. A novel polymorphism 3'+119T-->A in the 3' untranslated region (UTR) was identified in three healthy individuals and four patients with two disease-causing mutations in the ATP7B gene and a great diversity of clinical presentations. Of the ATP7B mutations reported here, Gly1268Arg is a novel one. Also, the previously described nucleotide change IVS2+63C-->G was detected in 31.66% of normal chromosomes and 26.15% of WD chromosomes. The results have indicated that there is no correlation between MURR1 and WD in the Chinese population.
Authors:
Zhi-Ying Wu; Gui-Xian Zhao; Wan-Jin Chen; Ning Wang; Bo Wan; Min-Ting Lin; Shen-Xing Murong; Long Yu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-01-28
Journal Detail:
Title:  Journal of molecular medicine (Berlin, Germany)     Volume:  84     ISSN:  0946-2716     ISO Abbreviation:  J. Mol. Med.     Publication Date:  2006 May 
Date Detail:
Created Date:  2006-05-01     Completed Date:  2007-01-30     Revised Date:  2011-07-08    
Medline Journal Info:
Nlm Unique ID:  9504370     Medline TA:  J Mol Med (Berl)     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  438-42     Citation Subset:  IM    
Affiliation:
Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, People's Republic of China. zhiyingwu67@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
3' Untranslated Regions
Adenosine Triphosphatases / genetics
Asian Continental Ancestry Group / genetics*
Carrier Proteins
Case-Control Studies
Cation Transport Proteins / genetics
China / ethnology
DNA Mutational Analysis
Exons
Gene Frequency
Genetic Predisposition to Disease
Hepatolenticular Degeneration / genetics*
Humans
Mutation
Polymorphism, Genetic
Proteins / genetics*
Chemical
Reg. No./Substance:
0/3' Untranslated Regions; 0/COMMD1 protein, human; 0/Carrier Proteins; 0/Cation Transport Proteins; 0/Proteins; EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.3.4/Wilson disease protein

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