Document Detail

Carrier detection and presymptomatic identification of Wilson disease in Chinese by non-isotopic linkage analysis with four short tandem repeat polymorphisms.
MedLine Citation:
PMID:  12840876     Owner:  NLM     Status:  MEDLINE    
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. To establish an efficient, accurate and fast diagnostic method for carrier detection and presymptomatic identification of WD in Chinese population, we studied haplotypes of short tandem repeat (STR) polymorphisms flanking the WD gene in 40 Chinese WD families. The results suggested that this genetic diagnosis system based on the four STR polymorphisms is of high value for the detection of potential carriers and WD homozygotes in families with at least one previously affected child. It is an efficient, accurate and fast diagnostic method that can be well suited for routine use in clinical laboratories.
Z Wu; N Wang; S Murong; X Ruan
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of Tongji Medical University = Tong ji yi ke da xue xue bao     Volume:  19     ISSN:  0257-716X     ISO Abbreviation:  J. Tongji Med. Univ.     Publication Date:  1999  
Date Detail:
Created Date:  2003-07-04     Completed Date:  2003-10-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8605495     Medline TA:  J Tongji Med Univ     Country:  China    
Other Details:
Languages:  eng     Pagination:  50-2, 65     Citation Subset:  IM    
Institute of Neurological Sciences, Department of Neurology, First Affiliated Hospital of Fujian Medical University, Fujian 350005.
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MeSH Terms
Asian Continental Ancestry Group
Genetic Markers
Hepatolenticular Degeneration / diagnosis,  genetics*
Heterozygote Detection / methods
Polymorphism, Genetic*
Tandem Repeat Sequences*
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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