Figure 1
From: Molecular characterisation of KIR2DS2*005, a fusion gene associated with a shortened KIR haplotype
Segregation analysis and KIR-gene walking of KIR2DS2*005 show this allele being inherited within a shortened B haplotype. Parental haplotypes (labelled ‘a’, ‘b’, ‘c’, ‘d’) were deduced from the KIR genotypes of donor C180 and her sibling (shown at the bottom). Using a KIR-gene walking approach in genomic DNA of C180F2, KIR2DS2*005 was mapped downstream of KIR3DL3 and immediately upstream of KIR2DP1; physical linkage in haplotype d, as demonstrated by KIR-gene walking, is represented by triple lines. The KIR2DS2*005-carrying haplotype is compared with a common KIR-B haplotype to illustrate apparent deletion of three genes in the former. Such deletion is consistent with the likely origin of KIR2DS2*005 (Figure 5). KIR3DP1*003 and KIR2DS4*003 were not distinguished from other alleles carrying exon 2 and exon 5 deletions, respectively; and KIR2DS2*001 stands for any KIR2DS2 alleles carrying canonical transmembrane and Cyt regions.
