Evaluation of a new microarray method for genotyping of HLA-DQ2 and HLA-DQ8 for investigation of celiac disease
Independent thesis Basic level (degree of Bachelor), 10 credits / 15 HE creditsStudent thesis
Celiac disease (CD) is an autoimmune disease, induced by an immune mediated reaction in the small intestine after ingestion of gluten and related prolamines. There is a strong genetic linkage and most important are the genes that encodes for HLA-DQ2 and HLA-DQ8. The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) has developed new guidelines for investigation of CD in children and adolescents, which include genotyping for HLA-DQ2 and HLA-DQ8. Therefore, the clinical microbiological laboratory in Västmanland wants to introduce a method for analysis of these genes. Microarray is a newly developed method for determination of the alleles HLA-DQA1 and HLA-DQB1 that encodes for the α- and β-subunits of the HLA-molecules. The method was verified for accuracy and repeatability, and also two extraction methods were compared. Samples from blood donors and laboratory personnel were analysed for HLA-DQ and tissue transglutaminase antibodies (anti-tTG), and two families were investigated according to the ESPGHAN guidelines. 48.3 % of the blood donors were positive for HLA-DQ2 and/or HLA-DQ8 and 30.4 % of the laboratory personnel, were positive for HLA-DQ2 or HLA-DQ8. Those who were tested for anti-tTG had no antibody response. Genotyping for HLA-DQ2 and HLA-DQ8 is a simple way to exclude CD, but it can also be used to confirm diagnosis in patients with symptoms and high anti-tTG levels and thus avoiding a biopsy. The results in the accuracy and repeatability tests showed that the microarray is a reliable method for detection of the HLA-DQ2 and HLA-DQ8 genes associated with CD.
Place, publisher, year, edition, pages
2012. , 16 p.
Biomedical Laboratory Science/Technology
IdentifiersURN: urn:nbn:se:uu:diva-176139OAI: oai:DiVA.org:uu-176139DiVA: diva2:534355