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. 2013 Jan 10;92(1):157–161. doi: 10.1016/j.ajhg.2012.11.016

Figure 3.

Figure 3

Identification of Two Null Alleles in MEOX1

The location of the two mutations is shown above the schematic depiction of MEOX1 along with sequence chromatograms of the affected individual and normal control. An RT-PCR experiment for the mutation in family 1 and family 2 is also shown; Rxn1 refers to one segment of exon 1, Rxn2 refers to another segment of exon 1, and Rxn3 is the GAPDH control. Note the complete absence of the mutant transcript in the affected individuals compared to the control. The source of RNA was lymphoblasts from individual V:1 and whole blood from individual IV:2.