Multiple copies of KIR 3DL/S1 and KIR 2DL4 genes identified in a number of individuals.
Multiple copies of the killer immunoglobulin-like receptor gene, 3DL/S1, have been identified in certain individuals. Additionally, allele determination of the killer immunoglobulin-like receptor gene (KIR), 2DL4, has identified three alleles of this gene present in these same individuals. This event has been confirmed by isolating three distinct KIR2DL4 allele clones in each individual, which sequenced as the alleles identified by the allele identification technique. It is our assumption that an unequal crossover event has occurred between differing KIR haplotypes resulting in the duplication of the 2DL4, 3DS1/3DL1 genes on the newly formed haplotype(s).
Williams
Fionnuala
F
Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, City Hospital, Belfast, Northern Ireland. fionnuala.williams@bll.n-i.nhs.uk
Maxwell
Lynn D
LD
Halfpenny
Iris A
IA
Meenagh
Ashley
A
Sleator
Carole
C
Curran
Martin D
MD
Middleton
Derek
D
D000483:Alleles; D018628:Gene Dosage; D020440:Gene Duplication; D015870:Gene Expression; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology*; D016133:Polymerase Chain Reaction; D011971:Receptors, Immunologic / Q000235:genetics*; D054340:Receptors, KIR; D054345:Receptors, KIR2DL4; D054341:Receptors, KIR3DL1; D054349:Receptors, KIR3DS1; D017421:Sequence Analysis
C515079:KIR2DL4 protein, human; D011971:Receptors, Immunologic; D054340:Receptors, KIR; D054345:Receptors, KIR2DL4; D054341:Receptors, KIR3DL1; D054349:Receptors, KIR3DS1