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A rapid and sensitive method to detect specific human lymphocyte antigen (HLA) class II alleles associated with celiac disease
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Francesca Megiorni
Published/Copyright:
December 13, 2007
Abstract
Background: Celiac disease (CD) is a complex disorder triggered by gluten affecting genetically predisposed individuals. More than 90% of patients carry human lymphocyte antigen (HLA)-DQ2 (DQA1*05, DQB1*02) and/or HLA-DQ8 (DQA1*03, DQB1*0302). We propose the use of the DQ-CD Typing kit that allows identification of the HLA class II alleles (DQA1*0201,*03,*05, DQB1*02,*0302, DRB1*03,*04,*07) selected to be informative in the CD risk evaluation and of a second kit, namely DQ-CD Zygosis, for DQB1*02 homozygosity determination.
Methods: The study was performed on a cohort of 100 individuals previously HLA typed with commercial kits. Fresh blood or previously extracted DNA was amplified in a unique PCR program using allele-specific primers and visualized on agarose gel.
Results: DNA amplification yielded strong and clear products without non specific signals or ghost bands. All the samples showed the expected alleles in accordance with the previous HLA typing.
Conclusions: The DQ-CD Typing and Zygosis kits are fast, simple, economical and accurate tools that can be used to determinate the HLA-DQ2/DQ8 status in laboratory practice addressed for the diagnosis of CD. Molecular HLA testing is considered a valid support in the confirmation/exclusion of CD, especially in high-risk groups, such as CD relatives, or when serological and histological data are ambiguous.
Clin Chem Lab Med 2008;46:193–6.
Keywords: celiac disease; DQ2/DQ8 molecules; human lymphocyte antigen (HLA) typing; sequence specific primer-polymerase chain reaction (SSP-PCR)
Received: 2007-8-1
Accepted: 2007-10-19
Published Online: 2007-12-13
Published in Print: 2008-02-01
©2008 by Walter de Gruyter Berlin New York
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Keywords for this article
celiac disease;
DQ2/DQ8 molecules;
human lymphocyte antigen (HLA) typing;
sequence specific primer-polymerase chain reaction (SSP-PCR)
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- Opinion Papers
- The double whammy of endogenous insulin antibodies in non-diabetic subjects
- ‘Likelihood-ratio’ and ‘odds’ applied to monitoring of patients as a supplement to ‘reference change value’ (RCV)
- Genetics and Molecular Diagnostics
- A family with multiple mutations and sequence variations in the α- and β-globin gene clusters
- CTLA-4 polymorphism 49A–G is associated with placental abruption and preeclampsia in Finnish women
- Rare TA repeats in promoter TATA box of the UDP glucuronosyltranferase (UGT1A1) gene in Croatian subjects
- Association of high sensitive C-reactive protein with apolipoprotein E polymorphism in children and young adults: The Cardiovascular Risk in Young Finns Study
- Relationship between thiolactonase activity and hyperhomocysteinemia according to MTHFR gene polymorphism in Tunisian Behçet's disease patients
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