Document Detail


Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.
MedLine Citation:
PMID:  2011585     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Chronic granulomatous disease (CGD) is a rare inherited condition rendering neutrophils incapable of killing invading pathogens. This condition is due to the failure of a multicomponent microbicidal oxidase that normally yields a low-midpoint-potential b cytochrome (cytochrome b245). Although defects in the X chromosome-linked cytochrome account for the majority of CGD patients, as many as 30% of CGD cases are due to an autosomal recessive disease. Of these, greater than 90% have been shown to be defective in the synthesis of a 47-kDa cytosolic component of the oxidase. We demonstrate here in three unrelated cases of autosomal recessive CGD that the identical underlying molecular lesion is a dinucleotide deletion at a GTGT tandem repeat, corresponding to the acceptor site of the first intron-exon junction. Slippage of the DNA duplex at this site may contribute to the high frequency of defects in this gene.
Authors:
C M Casimir; H N Bu-Ghanim; A R Rodaway; D L Bentley; P Rowe; A W Segal
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  88     ISSN:  0027-8424     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  1991 Apr 
Date Detail:
Created Date:  1991-05-06     Completed Date:  1991-05-06     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2753-7     Citation Subset:  IM    
Affiliation:
Department of Medicine, Rayne Institute, University College London, United Kingdom.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/D90291;  D90292;  D90293;  D90294;  D90295;  D90296;  D90297;  D90298;  M60941;  M60942
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Base Sequence
Cell Line
Chromosome Deletion*
Cytochrome b Group / genetics*
DNA / genetics,  isolation & purification
Dinucleoside Phosphates / analysis*
Genes, Recessive*
Granulomatous Disease, Chronic / genetics*
Humans
Molecular Sequence Data
Polymerase Chain Reaction
RNA, Messenger / genetics,  isolation & purification
Reference Values
Repetitive Sequences, Nucleic Acid*
Restriction Mapping
X Chromosome*
Grant Support
ID/Acronym/Agency:
//Wellcome Trust
Chemical
Reg. No./Substance:
0/Cytochrome b Group; 0/Dinucleoside Phosphates; 0/RNA, Messenger; 9007-49-2/DNA
Comments/Corrections

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


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