Document Detail

Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.
MedLine Citation:
PMID:  9790760     Owner:  NLM     Status:  MEDLINE    
We cloned and characterized a genomic DNA fragment including the deletion junction of a chronic granulomatous disease patient with a 25-kb deletion extending to the 5' two-thirds of CYBB. The 3' breakpoint of the deletion exists in exon 7 of CYBB. A LINE-1 element lies at 5 kb upstream of CYBB in normal persons, and the 5' breakpoint of the deletion in the patient is in the LINE-1 element. There are no significant homologies between corresponding normal 5' and 3' regions flanking the breakpoint of the patient, so a nonhomologous recombination is the most possible mechanism for this 25-kb deletion. The analysis also reveals that the patient has a novel 30-bp duplication in the 5' flanking region of the deletion point, which was transmitted by his mother with the deletion. Furthermore we suggest that the deletion occurred in his grandfather.
A Kumatori; N N Faizunnessa; S Suzuki; T Moriuchi; H Kurozumi; M Nakamura
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  53     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1998-12-11     Completed Date:  1998-12-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  123-8     Citation Subset:  IM    
Copyright Information:
Copyright 1998 Academic Press.
Institute of Tropical Medicine, Nagasaki University, Nagasaki, 852-8523, Japan.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AB013904;  AB013905
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MeSH Terms
Base Sequence
Blotting, Southern
Cytochrome b Group / genetics*
Deoxyribonucleases, Type II Site-Specific / genetics,  metabolism
Granulomatous Disease, Chronic / genetics*
Interspersed Repetitive Sequences*
Molecular Sequence Data
NADPH Oxidase*
Polymorphism, Genetic
Recombination, Genetic*
Sequence Analysis, DNA
Sequence Deletion
Sequence Homology, Nucleic Acid
X Chromosome
Reg. No./Substance:
0/Cytochrome b Group; 9064-78-2/cytochrome b558; EC Oxidase; EC, Type II Site-Specific

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