A new automated human leukocyte antigen genotyping strategy to identify DR-DQ risk alleles for celiac disease and type 1 diabetes mellitus

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A new automated human leukocyte antigen genotyping strategy to identify DR-DQ risk alleles for celiac disease and type 1 diabetes mellitus

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dc.contributor.author Lavant, Ewa
dc.contributor.author Carlson, Joyce
dc.date.accessioned 2009-12-11T10:04:28Z
dc.date.available 2009-12-11T10:04:28Z
dc.date.issued 2009
dc.identifier.issn 1434-6621 en
dc.identifier.uri http://hdl.handle.net/2043/9041
dc.description.abstract BACKGROUND: The risk for type 1 diabetes mellitus (T1DM) and celiac disease (CD) is related to human leukocyte antigen (HLA) DQA1, DQB1 and DRB1 loci. Unfortunately, HLA typing has been too difficult and costly for frequent use. Automated genotyping focused on risk alleles could provide access to HLA typing in diagnostic evaluations, epidemiological screening and contribute to preventive strategies. METHODS: A sequence specific primer amplification method requiring a total of four PCR reactions, one restriction enzyme digestion and a single electrophoretic step provides low to medium resolution typing of DQA1, DQB1 and DRB1 using Applied Biosystems 3730 DNA analyzer. The method was validated using 261 samples with genotypes determined using a reference method. RESULTS: Specific fluorescent DQA1, DQB1 and DRB1 amplicons were of expected size. Concordance with the reference method was 100% for DQA1 and DQB1 alleles and 99.8% for DRB1 alleles. CONCLUSIONS: We have developed a high throughput HLA typing method that accurately distinguishes risk alleles for T1DM and CD. This method allows screening of several thousand samples per week, consuming 32 ng of DNA template, low reagent volumes and minimal time for data review.
dc.format.extent 1
dc.language.iso eng en
dc.publisher Walter De Gruyter en
dc.subject HLA-DR-DQ-genotyping en
dc.subject celiac disease en
dc.subject type 1 diabetes mellitus en
dc.subject.classification Medicine en
dc.title A new automated human leukocyte antigen genotyping strategy to identify DR-DQ risk alleles for celiac disease and type 1 diabetes mellitus en
dc.type Article, peer reviewed scientific en
dc.contributor.department Malmö University. Faculty of Health and Society en
dc.identifier.doi 10.1515/CCLM.2009.346
dc.subject.srsc Research Subject Categories::MEDICINE en
dc.relation.ispartofpublication Clinical Chemistry and Laboratory Medicine;12 en
dc.relation.ispartofpublicationvolume 47 en
dc.format.ePage 1489
dc.format.sPage 1489
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