Document Detail


Identification of a new CA dinucleotide repeat in the human factor VIII gene.
MedLine Citation:
PMID:  11167772     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe the identification of a new CA dinucleotide repeat marker for the diagnosis of haemophilia A carriers. The marker (CA-6) is present in intron 6 as a single copy 5 kb upstream of exon 7. Of 195 and 118 X chromosomes from normal individuals and haemophilia A patients, respectively, we observed three alleles of CA-6 with 12-14 repetitions [(CA)(12-14)]. The frequencies were 0.5% and 0% for (CA)(12), 99% and 95.8% for (CA)(13), and 0.5% and 4.2% for (CA)(14) in normals and patients respectively. We conclude that the low polymorphism of the CA-6 marker renders it less useful for the diagnosis of Chinese haemophilia A carriers.
Authors:
S R Lin; S W Lin; Y C Hsu; M C Shen
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  British journal of haematology     Volume:  111     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2001-02-22     Completed Date:  2001-03-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1256-9     Citation Subset:  IM    
Affiliation:
Institute of Molecular Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
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MeSH Terms
Descriptor/Qualifier:
Blotting, Southern
Case-Control Studies
China
Dinucleotide Repeats*
Factor VIII / genetics*
Female
Genetic Markers
Hemophilia A / genetics*
Heterozygote Detection
Humans
Male
Polymerase Chain Reaction
Chemical
Reg. No./Substance:
0/Genetic Markers; 9001-27-8/Factor VIII

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


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