Source:http://linkedlifedata.com/resource/pubmed/id/20858522
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
12
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| pubmed:dateCreated |
2010-11-10
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| pubmed:abstractText |
An unusual haplotype without a detectable human leukocyte antigen (HLA)-A allele by serologic or molecular typing methods segregates in a Caucasian family. Microsatellite analysis and fluorescence in situ hybridization implicated that the deletion encompasses a narrow region. To identify the deleted region, five different fragments in close proximity to HLA-A, known to be highly polymorphic, were amplified and sequenced. The presence of heterozygous sequences in all five fragments of the individuals carrying the haplotype with the HLA-A deletion, indicates that the fragments are not involved in the deletion. Therefore, the 5' primer from the fragment closest to the centromeric side of HLA-A was combined with the 3' primer closest to the telomeric side encompassing an 11-kb region. Sequencing revealed that a deletion of 4089 bp was present, located upstream of HLA-A, including exons and introns 1-3 of the HLA gene. Sequence information of the 3' part of HLA-A, downstream the deletion, identified that the deleted allele originates from an A*24 allele. Although different repeat sequences are present in the region both inside and outside the deletion, no evidence points to a retrotransposon mechanism. The detected partial deletion of HLA-A turns this functional gene into a pseudogene.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Dec
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| pubmed:issn |
1879-1166
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright © 2010 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.
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| pubmed:issnType |
Electronic
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| pubmed:volume |
71
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
1197-202
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| pubmed:dateRevised |
2011-11-17
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| pubmed:meshHeading |
pubmed-meshheading:20858522-Adult,
pubmed-meshheading:20858522-Child,
pubmed-meshheading:20858522-European Continental Ancestry Group,
pubmed-meshheading:20858522-Exons,
pubmed-meshheading:20858522-Family,
pubmed-meshheading:20858522-Female,
pubmed-meshheading:20858522-HLA-A Antigens,
pubmed-meshheading:20858522-HLA-A24 Antigen,
pubmed-meshheading:20858522-Histocompatibility Antigens Class I,
pubmed-meshheading:20858522-Histocompatibility Testing,
pubmed-meshheading:20858522-Humans,
pubmed-meshheading:20858522-In Situ Hybridization, Fluorescence,
pubmed-meshheading:20858522-Male,
pubmed-meshheading:20858522-Microsatellite Repeats,
pubmed-meshheading:20858522-Pedigree,
pubmed-meshheading:20858522-Pseudogenes,
pubmed-meshheading:20858522-Sequence Analysis, DNA,
pubmed-meshheading:20858522-Sequence Deletion
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| pubmed:year |
2010
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| pubmed:articleTitle |
Inactivation of a functional HLA-A gene: a 4-kb deletion turns HLA-A*24 into a pseudogene.
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| pubmed:affiliation |
Transplantation Immunology, Tissue Typing Laboratory, Maastricht University, Medical Centre, Maastricht, the Netherlands. c.voorter@mumc.nl
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| pubmed:publicationType |
Journal Article
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