HLA Genotyping Techniques in Transplantation Immunology
Summary
Human leukocyte antigen (HLA) genotyping underpins the compatibility assessment between donor and recipient in both haematopoietic stem cell and solid-organ transplantation. Advances in sequencing technologies have transformed HLA typing from low-resolution serological assays to high-resolution molecular approaches. Contemporary workflows employ multiplex polymerase chain reaction (PCR) or target capture to isolate class I and II loci, followed by next-generation sequencing (NGS) on short-read platforms such as Illumina or long-read platforms such as Pacific Biosciences. These methods enable allele-level discrimination and the phasing of polymorphisms across exons, introns and untranslated regions, thereby reducing ambiguity and improving match accuracy. Microfluidic chips and sample barcoding facilitate high-throughput processing of thousands of samples per run, while bioinformatic pipelines integrate reference databases to assign alleles to four- to eight-digit resolution. The increasing number of novel alleles identified through deep sequencing necessitates robust curation resources and standardised nomenclature. Together, these technical refinements enhance graft survival rates, inform donor registry strategies and support equitable access to transplantation across diverse populations.
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HLA Genotyping Techniques in Transplantation Immunology publication trend
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Technical terms
HLA (Human leukocyte antigen): A group of highly polymorphic genes within the major histocompatibility complex that present peptide antigens to T cells and determine tissue compatibility in transplantation.
Allelic resolution: The level of detail in HLA typing, expressed as two-, four- or eight-digit allele codes indicating increasing specificity of nucleotide variation.
Next-generation sequencing (NGS): High-throughput DNA sequencing technologies that generate large volumes of short or long reads for comprehensive allele characterisation.
Amplicon-based NGS: A genotyping approach in which specific HLA exons or gene segments are PCR-amplified and pooled for simultaneous sequencing.
Phasing: The determination of which polymorphisms occur on the same chromosome, enabling unambiguous assignment of heterozygous alleles.
Haplotype: A combination of alleles at multiple HLA loci that are inherited together and used to assess linkage disequilibrium and population structure.
Bioinformatic pipeline: A software workflow that aligns sequencing reads to reference sequences, calls variants and assigns HLA alleles based on curated databases.
References
- HLA allele and haplotype frequencies of registered stem cell donors in Chile. Frontiers in Immunology (2023).
- IPD-IMGT/HLA Database. Nucleic Acids Research (2019).
- Common, intermediate and well‐documented HLA alleles in world populations: CIWD version 3.0.0. HLA (2020).
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