A rapid and sensitive method to detect specific human lymphocyte antigen (HLA) class II alleles associated with celiac disease.
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.
Megiorni
Francesca
F
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Mora
Barbara
B
Bonamico
Margherita
M
Nenna
Raffaella
R
Di Pierro
Mariarosaria
M
Catassi
Carlo
C
Drago
Sandro
S
Mazzilli
Maria Cristina
MC
D000483:Alleles; D002446:Celiac Disease / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D012680:Sensitivity and Specificity
D006683:HLA-DQ Antigens