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. 2013 Jan 10;92(1):28–40. doi: 10.1016/j.ajhg.2012.11.013

Figure 3.

Figure 3

Swapping of Proximal and Distal Haplotype Blocks

Comparison of SNP patterns to candidate PSVs derived from the reference sequence shows that two haplotype blocks located at the outer boundaries of the breakpoint region (dashed boxes) appear to be swapped between proximal and distal region on a number of chromosomes.

(A) Paralogous sequence variation within swapped haplotype blocks. PSVs were derived by global alignment of proximal and distal region of paralogy. Only candidate PSVs within the two swapped blocks are shown with the color coding representing the PSV “allele” at the paralogous site.

(B) Allelic sequence variation within swapped haplotype blocks. SNPs were identified by sequencing of fosmid clones from six individuals (ABC7, ABC8, ABC10, ABC12, ABC13, ABC14) and hydatidiform mole BAC clones from one individual. SNP alleles at the respective positions are shown below for each individual (ABCx) and chromosome (A/B). Grey shading indicates missing haplotype information. High similarity between SNP and PSV patterns suggest that sequence between the two paralogous regions has been swapped.