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HLA-C Group Type

Principle

HLA-C alleles are divided into two groups—HLA-C alleleC1 and C2—based on the amino acid present at position 80. C1 alleles contain asparagine (Asn), while C2 alleles contain lysine (Lys). Accordingly, individuals may carry one of three possible genotypes: C1C1, C1C2, or C2C2.

HLA-C1 and HLA-C2 function as ligands for specific activating or inhibitory KIR (Killer-cell Immunoglobulin-like Receptors) expressed on NK cells. Certain combinations of KIR and HLA-C genotypes are associated with susceptibility to infectious and autoimmune diseases.

Elevated frequencies of maternal KIR AA genotype paired with paternal HLA-C2 have been reported in patients with preeclampsia and recurrent pregnancy loss. Additionally, an individual’s HLA-C group genotype can influence NK cell function depending on which KIRs are co-expressed.

Specimen Requirements

Specimen

Whole blood

Collection

Lavender-top tubes (EDTA)

Storage and Transport

Send at room temperature

Minimum Volume

10 mL total (two 5 mL tubes)

Unacceptable Specimens

  • Specimens not collected in EDTA tubes
  • Clotted specimens
  • Frozen specimens

Stability

Deliver to the laboratory within 72 hours

Method

Next Generation Sequencing (NGS)

Turnaround Time

10 business days

References

  • Parham P. MHC class I molecules and KIRs in human history, health and survival. Nature Reviews Immunology 2005, 5:201.
  • Hiby S. et al. Combinations of maternal KIR and fetal HLA-C genes influence the risk of preeclampsia and reproductive success. J Exp Med 2004, 200:987.
  • Fauriat C. et al. Education of human natural killer cells by activating killer cell immunoglobulin-like receptors. Blood 2010, 115:1166.

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