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. Author manuscript; available in PMC: 2011 May 11.
Published in final edited form as: Nat Genet. 2010 Sep 5;42(10):859–863. doi: 10.1038/ng.658

Figure 5.

Figure 5

PRDM9 variation and de novo HNPP/CMT1A rearrangements in sperm DNA. (a) Detection of HNPP deletion junctions in sperm DNA from a PRDM9 A/A homozygote and a C/L14 heterozygote, with 40 ng DNA input per PCR reaction. (b) Rearrangement frequencies in A/A (black), A/N (blue) and N/N (red) men for HNPP deletions and CMT1A duplications, with CIs and median values per group shown as in Fig. 1. The same men were analysed for both rearrangements, but not all men were typed for duplications, which arise at a lower frequency than deletions6. Rearrangements in blood were rare6 (<2.2×10−6 for deletions, <1.3×10−6 for duplications, P > 0.95).