Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

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Figure 3.
Figure 3.

Southern hybridization analysis of CH98-18. (A) Restriction sites for NdeI that generate the expected 20.5 kb band in the LCR-E region are shown. The restriction site in LCR-D that would give rise to the ∼19 kb rearranged fragment is indicated along with the chromosomal coordinates (NCBI build 35). The location of probe DP2 used in Southern hybridization is also shown. (B) Autoradiograph showing the results of Southern hybridization of NdeI-digested genomic DNA using DP2 as a probe. (N) Normal control; (CH98-18) total genomic DNA from patient CH98-18; (H5 and H1) genomic DNA from hybrids H5 and H1, respectively. The normal 20.5 kb band is indicated by a filled arrowhead, and the ∼19 kb rearranged band is indicated by an unfilled arrowhead.

This Article

  1. Genome Res. 17: 482-491

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