Abstract |
We genotyped celiac disease (CD)-associated haplotypes DQ2.5, DQ8, DQ2.2, and DQ7 in 1005 CD patients from North Eastern Italy using a Tag-single nucleotide polymorphism (SNPs) approach and real time PCR platform, checking the accuracy and reliability of the method and comparing it to traditional PCR-SSP. Only 14 of 2010 chromosomes analyzed (0.7%) showed discrepancies between the Tag-SNPs real-time polymerase chain reaction (PCR) method and the PCR-single-strand polymorphism (SSP) technique, indicating a high sensitivity and specificity (ranging from 0.987 to 1 and from 0.998 to 0.999, respectively) for tagging with respect to corresponding human leukocyte antigen (HLA) alleles identified by PCR-SSP. Moreover, the overall cost of the Tag-SNPs HLA typing method was low (3 to 4 €/sample instead of 35 to 70 €/sample with commercial kits), making it suitable for mass screenings. Hence, we believe that the Tag-SNPs HLA typing could be used to complement or replace classic HLA typing in at high-risk groups, for research purposes and eventually in population screening programs.
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Authors | Serena Vatta, Annalisa Fabris, Ludovica Segat, Tarcisio Not, Sergio Crovella |
Journal | Human immunology
(Hum Immunol)
Vol. 72
Issue 6
Pg. 499-502
(Jun 2011)
ISSN: 1879-1166 [Electronic] United States |
PMID | 21513759
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2011 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. |
Topics |
- Adolescent
- Adult
- Aged
- Celiac Disease
(diagnosis, genetics, immunology)
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Italy
- Male
- Mass Screening
- Middle Aged
- Polymerase Chain Reaction
(methods)
- Polymorphism, Single Nucleotide
- Reproducibility of Results
- Reverse Transcriptase Polymerase Chain Reaction
(methods)
- Sensitivity and Specificity
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