Application Guide - QIAxcel Advanced

60 QIAxcel Advanced Application Guide 10/2016 Safe and rapid HLA typing using the QIAxcel® system Jean-Luc Sambucy Merck Serono SA, Geneva, Switzerland Using the QIAxcel system and data exchange with HLA genotyping software, PCR products from different HLA loci can be analyzed and typed in a few minutes. This method is simple and reliable and significantly reduces hands-on time compared to traditional methods in clinical research. Introduction Human leukocyte antigens (HLA) are proteins that are presenton each cell surface and allow the immune system to recognize “self” from “foreign” (1). Each individual human exhibits approximately 8 HLA types. Since each type comprises hundreds of subtypes, the chance that 2 unrelated individuals will have identical HLA patterns is very low (2). Although HLA typing is primarily used to match organ donors and recipients, it is also often used in biomedical research because HLA profiles are associated with a number of diseases. For example, the presence of HLA-DR4 and HLA-DRB1 increases the risk of rheumatoid arthritis 7-fold (3). A correlation between HLA type and the resistance or susceptibility to certain infectious diseases has also been observed (4). Epstein-Barr virus requires HLA Class II-Dr (in addition to CD21) to penetrate cells (5). Other diseases associated with HLA types include autoimmune diseases, post-infectious arthritis, type I diabetes, autoimmune hepatitis, and several others (see Table 1). Rapid and routine HLA typing of individual humans and populations will facilitate understanding of the role of HLA types with respect to disease. Disease HLA loci Reference Autoimmune diseases HLA-B27 6 Rheumatoid arthritis HLA-DR4, HLA-DRB1, HLA-DRB1*0404 3 Post-infectious arthritis HLA-B27 7 Type I diabetes HLA-DR3, HLA-DR4, HLA-DQ 8 Autoimmune hepatitis HLA-DRB1*1301, HLA-DR3 9 Infectious diseases HLA-DR2 10 Malaria HLA-B53 11 Cancer HLA-G 12 Breast cancer HLA DQB*03032, HLA DRB1*11 13 Epstein-Barr virus infection HLA Class II 5 Table 1. HLA types correlated with disease* * This list is not complete and includes only prominent examples of HLA genotypes that correlate with a disease or are suspected to play a role in a disease. Rheumatoid arthritis HLA-DR4, HLA-DRB1, HLA-DRB1*04043 Breast cancer HLA DQB*03032, HLA DRB1*1113

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