[HLA genotyping for molecular epidemiological analysis of humans]

The major histocompatibility complex (MHC) gene family in humans is termed the human leukocyte antigen (HLA) locus, and is one of the most polymorphic loci in the human genome. HLA and related genes play many important roles in the immune system. HLA matching is critical for the success of organ and hematopoietic stem cell transplantation. Additionally, HLA genes and proteins are associated with autoimmunity, immunity to infections, tumor development, and adverse drug reactions (ADR). For matching donor and recipient HLA types and to understand the role played by the HLA in disease development, lymphocyte cytotoxicity tests (LCT) were developed by Dr. Terasaki in the 1960s. This serological typing method, which was in use until recently, is now no longer used and has been replaced by DNA-based typing methods such as PCR-SSP (sequence-specific primers), PCR-rSSO(reverse sequence-specific oligonucleotide probes), and PCR-SBT (sequence-based typing). In the future, the current HLA-typing methods will be replaced by faster, more detailed and more cost-effective methods such as next-generation sequencing (NGS). In this review, we focus on the past and present methods of HLA typing, and the role of the HLA in various diseases.