title: Killer-cell Immunoglobulin-like Receptor gene linkage and copy number variation analysis by droplet digital PCR.
abstract: The Killer-cell Immunoglobulin-like Receptor (KIR) gene complex has considerable biomedical importance. Patterns of polymorphism in the KIR region include variability in the gene content of haplotypes and diverse structural arrangements. Droplet digital PCR (ddPCR) was used to identify different haplotype motifs and to enumerate KIR copy number variants (CNVs). ddPCR detected a variety of KIR haplotype configurations in DNA from well-characterized cell lines. Mendelian segregation of ddPCR-estimated KIR2DL5 CNVs was observed in Gambian families and CNV typing of other KIRs was shown to be accurate when compared to an established quantitative PCR method.
authors.affiliation: London School of Hygiene and Tropical Medicine, Keppel St, London WC1E 7HT, UK.
authors.forename: Chrissy H
authors.initials: CH
authors.lastname: Roberts
authors.affiliation: Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 0XY, UK ; Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK.
authors.forename: Wei
authors.initials: W
authors.lastname: Jiang
authors.affiliation: Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 0XY, UK ; Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK.
authors.forename: Jyothi
authors.initials: J
authors.lastname: Jayaraman
authors.affiliation: Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 0XY, UK ; Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK.
authors.forename: John
authors.initials: J
authors.lastname: Trowsdale
authors.affiliation: London School of Hygiene and Tropical Medicine, Keppel St, London WC1E 7HT, UK.
authors.forename: Martin J
authors.initials: MJ
authors.lastname: Holland
authors.affiliation: Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 0XY, UK ; Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK.
authors.forename: James A
authors.initials: JA
authors.lastname: Traherne