Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1998-12-11
|
| pubmed:databankReference | |
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0888-7543
|
| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 1998 Academic Press.
|
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
53
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
123-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9790760-Base Sequence,
pubmed-meshheading:9790760-Blotting, Southern,
pubmed-meshheading:9790760-Cytochrome b Group,
pubmed-meshheading:9790760-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:9790760-Female,
pubmed-meshheading:9790760-Granulomatous Disease, Chronic,
pubmed-meshheading:9790760-Humans,
pubmed-meshheading:9790760-Interspersed Repetitive Sequences,
pubmed-meshheading:9790760-Male,
pubmed-meshheading:9790760-Molecular Sequence Data,
pubmed-meshheading:9790760-NADPH Oxidase,
pubmed-meshheading:9790760-Pedigree,
pubmed-meshheading:9790760-Polymorphism, Genetic,
pubmed-meshheading:9790760-Recombination, Genetic,
pubmed-meshheading:9790760-Sequence Analysis, DNA,
pubmed-meshheading:9790760-Sequence Deletion,
pubmed-meshheading:9790760-Sequence Homology, Nucleic Acid,
pubmed-meshheading:9790760-X Chromosome
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.
|
| pubmed:affiliation |
Institute of Tropical Medicine, Nagasaki University, Nagasaki, 852-8523, Japan. kumatori@net.nagasaki-u.ac.jp
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|