PCR-SBT Characterization of A New HLA Allele: A*02:548

Abstract

The human Major Histocompatibility Complex (MHC) lies within the short arm of chromosome 6 and is responsible for the production of Human Leukocyte Antigens (HLA). The HLA genes are the most polymorphic genes in the human genome, encoding over 13000 allelic variants. Our laboratories are involved in HLA tissue typing of patients, their relatives and volunteer donors for the Italian Bone Marrow Register. During HLA-A high resolution typing of our Caucasian bone marrow volunteer donors, we found a sequence largely homologous to A*02:01 with a mutation at position 367 a C instead of a T. This mutation results in a coding change from Tyrosine to Histidine in exon 3 (codon 99 TAT→CAT). This allele was then submitted to the WHO Nomenclature Committee via the IMGT/HLA Database for naming and was assigned the official name A*02:548.