Ambiguous allele combinations in the HLA high resolution genotyping--review / 中国实验血液学杂志

ABSTRACT

Human lymphocyte antigen (HLA) is the most complicated human dominant polymorphic genetic system. Accurate HLA genotyping is clinically important for hematopoietic stem cell (HSC) transplantation, also important for research on many human diseases. Polymerase chain reaction-sequence based typing (PCR-SBT) provides the highest resolution level and defines new alleles, so it is widely used for HLA typing. One great disadvantage of PCR-SBT method is the fact that it cannot resolve sequences of heterozygous samples in diploid genomes, leading to ambiguous typing results which make much trouble to the accurate definition of HLA genotype. This article reviewed the occurring reasons and solution method of ambiguous allele combinations in the HLA high resolution genotyping as well as the research prospect in this field.