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qKAT: a high-throughput qPCR method for KIR gene copy number and haplotype determination

Published version
Peer-reviewed

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Authors

Johnson, C 
Simecek, N 
López-Álvarez, MR 
Di, D 

Abstract

Killer cell immunoglobulin-like receptors (KIRs), expressed on natural killer cells and T cells, have considerable biomedical relevance playing significant roles in immunity, pregnancy and transplantation. The KIR  locus is one of the most complex and polymorphic regions of the human genome. Extensive sequence homology and copy number variation makes KIR s technically laborious and expensive to type. To aid the investigation of KIR s in human disease we developed a high-throughput, multiplex real-time polymerase chain reaction method to determine gene copy number for each KIR  locus. We used reference DNA samples to validate the accuracy and a cohort of 1698 individuals to evaluate capability for precise copy number discrimination. The method provides improved information and identifies KIR  haplotype alterations that were not previously visible using other approaches.

Description

Keywords

killer cell immunoglobulin-like receptor ($\textit{KIR}$), copy number variation, haplotype, real-time quantitative polymerase chain reaction

Journal Title

Genome Medicine

Conference Name

Journal ISSN

1756-994X
1756-994X

Volume Title

8

Publisher

BioMed Central
Sponsorship
This work was funded by the Medical Research Council (MRC) and the Wellcome Trust with partial funding from the National Institute of Health (NIH) Cambridge Biomedical Research Centre and NIH Research Blood and Transplant Research Unit (NIHR BTRU) in Organ Donation and Transplantation at the University of Cambridge in collaboration with Newcastle University and in partnership with NHS Blood and Transplant (NHSBT).