Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification
| Autor: | Ellen van der Zwan, Ellen de Baar, Raymon Vijzelaar, Ingrid M.W. van Hoogstraten, Wouter Kortlandt, Adriaan J. van Gammeren, Rizkat Yilmaz, Lianne Schrauwen, Alice Verheul |
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| Přispěvatelé: | Pathology, AGEM - Digestive immunity |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Genotype Biology 03 medical and health sciences 0302 clinical medicine Gene Frequency Risk Factors HLA-DQ Antigens Multiplex polymerase chain reaction Humans Genetic Predisposition to Disease Multiplex Multiplex ligation-dependent probe amplification Allele frequency Genotyping Alleles Genetics (clinical) Haplotype HLA-DQ2 nutritional and metabolic diseases General Medicine Molecular biology Celiac Disease 030104 developmental biology Haplotypes 030220 oncology & carcinogenesis Multiplex Polymerase Chain Reaction |
| Zdroj: | Genetic Testing and Molecular Biomarkers, 20(3), 158-161. Mary Ann Liebert Inc. Vijzelaar, R, van der Zwan, E, van Gammeren, A, Yilmaz, R, Verheul, A, van Hoogstraten, I, de Baar, E, Schrauwen, L & Kortlandt, W 2016, ' Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification ', Genetic Testing and Molecular Biomarkers, vol. 20, no. 3, pp. 158-161 . https://doi.org/10.1089/gtmb.2015.0233 |
| ISSN: | 1945-0257 1945-0265 |
| DOI: | 10.1089/gtmb.2015.0233 |
| Popis: | Background: Genotyping of HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 is important in celiac disease (CD). The absence of these three genotypes has a strong negative predictive value. Methods: We designed multiplex ligation-dependent probe amplification (MLPA) for the combined detection of HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8. The MLPA probe mix was validated against a set of 59 samples characterized by conventional techniques. Results: The MLPA assay genotyped all 59 samples correctly when compared to the results obtained by PCR-SSCP/HD or PCR-SSO and PCR-SSP. Conclusion: The MLPA assay provides a reliable single-reaction analysis of the CD risk genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 allowing for stratification or exclusion of disease risk. |
| Databáze: | OpenAIRE |
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