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Figure 1 | Genome Medicine

Figure 1

From: Killer-cell Immunoglobulin-like Receptor gene linkage and copy number variation analysis by droplet digital PCR

Figure 1

Organization of the KIR locus on the human chromosome region 19q13.4. KIR haplotypes are composed of different centromeric (cA01, cB01 and cB02) and telomeric motifs (tA01, tB01) [10]. Each motif has a different content and arrangement of genes. Framework genes, which are found at the ends and near the middle of the locus on nearly all haplotypes [11] are shaded grey. The KIR2DL5 gene can be located in either the centromeric or telomeric motif, adjacent to KIR2DL2 and KIR3DS1, respectively, or on both motifs of a single haplotype. Different centromeric motifs can be paired with different telomeric motifs through the central reciprocal recombination hotspot between KIR3DP1 and KIR2DL4, as indicated by different dashed lines. KIR haplotypes can be classified into two categories [12]: group A haplotypes (shaded grey), composed of cA01 and tA01 motifs only, have fixed gene-content with one activating gene (KIR2DS4); group B haplotypes (unshaded), comprising at least one motif of type cB01, cB02 or tB01, have variable gene content between framework genes and more than one activating KIR locus.

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