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. Author manuscript; available in PMC: 2009 Dec 30.
Published in final edited form as: Hum Mutat. 2006 Nov;27(11):1157. doi: 10.1002/humu.9461

Figure 2.

Figure 2

PKP2 genomic sequencing and pedigree analysis. A: PKP2 genomic sequence analysis of the end of exon 12 and the downstream 5’ intronic splice site for a control individual, the proband (II-1), and the proband’s parents (I-1 and I-2). The dotted line indicates the boundary between the exon (capital letters) and intron (lowercase). The c.2484C>T mutation (NM_004572.2) is indicated with an asterisk. The proband’s parents are each heterozygous (C/T) at position c.2484, and the proband (arrow) is homozygous (T/T) at this position. B: Pedigree of the proband’s family. Squares, male; circles, female; black shading, affected; white shading, unaffected; dots indicate heterozygous individuals as described in (A). For the proband, the lengths of the microsatellite markers D12S345 and D12S1692 are indicated below the pedigree.