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. Author manuscript; available in PMC: 2013 Oct 16.
Published in final edited form as: Am J Med Genet A. 2010 Oct;0(10):2493–2504. doi: 10.1002/ajmg.a.33618

Figure 3.

Figure 3

Restriction enzyme digestion of a 195-bp DISP1 exon 8 product with CviKI-1. Wild type product with CviKI-1 recognition site (GG ↓CT) is digested into fragments of 103-bp and 92-bp. The mutation [c.4412C>G (p.Ala1471Gly)] abolishes a CviKI-1 site (GG GT). The presence of the fragments of 195-bp, 103-bp and 92-bp indicates a heterozygous mutation. Samples are as follows: Promega 100-bp DNA ladder (M); undigested PCR product (lane 1); Patient 1’s lymphoblastoid cell line (lane 4), peripheral blood (lane 6), and saliva (lane 9); mother’s lymphoblastoid cell line (lane 2) and saliva (lane 7); father’s lymphoblastoid cell line (lane 3) and saliva (lane 8); healthy brother’s saliva DNA (lane 10); and wild type control (lane 5). Both lane 4 (lymphoblastoid cell line DNA) and lane 6 (peripheral blood DNA) show a heterozygous mutation in Patient 1. Note that the 195-bp mutant fragment is less intense in lane 6 compared to lane 4. There is no observed mutant fragment in the patient’s saliva DNA (lane 9).