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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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Volume 46, Issue 2 (Feb 2008)


A rapid and sensitive method to detect specific human lymphocyte antigen (HLA) class II alleles associated with celiac disease

Francesca Megiorni / Barbara Mora / Margherita Bonamico / Raffaella Nenna / Mariarosaria Di Pierro / Carlo Catassi / Sandro Drago / Maria Cristina Mazzilli
Published Online: 2007-12-13 | DOI: https://doi.org/10.1515/CCLM.2008.049


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)

About the article

Corresponding author: Maria Cristina Mazzilli, Department of Experimental Medicine, “Sapienza” University of Rome Viale Regina Elena, 324, 00161 Rome, Italy Phone: +39-06-4451286, Fax: +39-06-4454820

Received: 2007-08-01

Accepted: 2007-10-19

Published Online: 2007-12-13

Published in Print: 2008-02-01

Citation Information: Clinical Chemical Laboratory Medicine, ISSN (Online) 14374331, ISSN (Print) 14346621, DOI: https://doi.org/10.1515/CCLM.2008.049.

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©2008 by Walter de Gruyter Berlin New York. Copyright Clearance Center

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