The HLA system is the most polymorphic genetic system known in man and plays an important role in many clinical settings such as disease susceptibility, blood transfusion, hematopoietic stem cell and solid organ transplantation.

The classical HLA genes can be subdivided into two major classes: HLA class I (HLA-A, B, C) and HLA class II (HLA-DR, DQ, DP) genes. Cell membrane products of these genes are expressed on most cells of the body and present either intra cellular derived peptides or extra cellular derived peptides to the immune system. The diversity of HLA molecules is the result of nucleotide substitutions at exon(s) and or intron(s) sequences. These substitutions can give rise to amino acid differences that may have impact on peptide presentation or interaction with the T-cell receptor.

Characterization and identification of the enormous diversity of HLA alleles at the DNA level is performed by means of high resolution typing techniques such as the 'conventional' Sanger Sequence Based Typing (SBT) technique and Next Generation Sequencing (NGS) technique. The use of these two HLA typing techniques enables the unraveling of nucleotide sequences of all relevant exons and introns giving rise to unambiguous allelic and genotypic typing results.

What can Sanquin can for you?

Sanquin offers low and high resolution typing of the different HLA genes. Sanquin is accredited by the European Federation of immunogenetics.


HLA typing by next-generation sequencing – getting closer to reality.
Gabriel C, Fürst D, Faé I, Wenda S, Zollikofer C, Mytilineos J, Fischer GF. Tissue Antigens 2014; 83 (2):65-75.

Extensive variation in gene copy number at the killer immunoglobulin-like receptor locus in humans.
Vendelbosch S, de Boer M, Gouw RA, Ho CK, Geissler J, Swelsen WT, Moorhouse MJ, Lardy NM, Roos D, van den Berg TK, Kuijpers TW. PLoS One 2013; 8(6):e67619.

Identification of two new HLA class II alleles: DRB1*01:50 and DQB1*05:18
Swelsen WT, Hartog KS, Lardy NM. Tissue Antigens 2013; 82(1):78-9.

The unusual DRB1*08:01 haplotype carrying DRB3*02:02 confirmed in a Dutch family.
Swelsen WT, Hartog KS, Ranzijn CM, Lardy NM. Tissue Antigens 2013; 82(2):122-4.

Characterization of three new HLA-B alleles: B*35:05:03, B*52:29 and B*57:01:13.
Swelsen WT, Hartog KS, Poell B, Varlack SV, Lardy NM. Tissue Antigens 2012; 80(3):270-1.

Characterization of a new allele: HLA-A*03:134.
Swelsen WT, Poell B, Hartog KS, Lardy NM. Tissue Antigens 2012; 79(4):309-10.


Need help?

Get in touch with Anja ten Brinke, PhD or Annelies Turksma, PhD
[email protected]