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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1-2
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pubmed:dateCreated |
1995-8-3
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pubmed:abstractText |
Polymorphism of the TAP2 gene locus, situated approximately 150 kb centromeric to the MHC class II loci HLA-DR, DQ was examined in 100 Australian patients with relapsing/remitting multiple sclerosis (MS), in 100 random controls and in 37 selected HLA-DRB1*1501-positive controls. The results were correlated with HLA class I and class II phenotypes. TAP2 encodes a protein involved in the transport and presentation of antigenic peptides by MHC class I molecules and hence is a candidate locus for a putative MS susceptibility gene either through functional interactions with class I alleles or as an explanation, via linkage disequilibrium (LD), for the known association between MS and the alleles DRB1*1501, DQA1*0102, DQB1*0602. Strong LD was found between the allele TAP2*01 and DRB1*1501 in both the MS and control populations. The MS-associated haplotype can therefore be extended to DRB1*1501, DQA1*0102, DQB1*0602, TAP2*01, and the putative gene locus could reside on the centromeric side of DQ. TAP2 typing, however, could not explain the DRB1*1501, DQA1*0102, DQB1*0602-negative patients in whom, interestingly, the frequency of TAP2*01 was decreased compared to controls. The results of this study exclude TAP2 as a locus for a necessary MS/MHC gene but indicate that an MS gene carried by the DRB1*1501, DQA1*0102, DQB1*0602 haplotype could reside centromeric of DQ.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/ATP-Binding Cassette Transporters,
http://linkedlifedata.com/resource/pubmed/chemical/HLA-DQ Antigens,
http://linkedlifedata.com/resource/pubmed/chemical/HLA-DQ alpha-Chains,
http://linkedlifedata.com/resource/pubmed/chemical/HLA-DQA1 antigen,
http://linkedlifedata.com/resource/pubmed/chemical/HLA-DR Antigens,
http://linkedlifedata.com/resource/pubmed/chemical/HLA-DRB1 Chains,
http://linkedlifedata.com/resource/pubmed/chemical/TAP2 protein, human
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0165-5728
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
113-21
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:7797612-ATP-Binding Cassette Transporters,
pubmed-meshheading:7797612-Alleles,
pubmed-meshheading:7797612-Amino Acid Sequence,
pubmed-meshheading:7797612-Base Sequence,
pubmed-meshheading:7797612-HLA-DQ Antigens,
pubmed-meshheading:7797612-HLA-DQ alpha-Chains,
pubmed-meshheading:7797612-HLA-DR Antigens,
pubmed-meshheading:7797612-HLA-DRB1 Chains,
pubmed-meshheading:7797612-Humans,
pubmed-meshheading:7797612-Linkage Disequilibrium,
pubmed-meshheading:7797612-Molecular Sequence Data,
pubmed-meshheading:7797612-Multiple Sclerosis,
pubmed-meshheading:7797612-Polymorphism, Genetic
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pubmed:year |
1995
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pubmed:articleTitle |
TAP2 polymorphisms in Australian multiple sclerosis patients.
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pubmed:affiliation |
Department of Immunology, Westmead Hospital, Sydney, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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