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. 2003 Dec 18;74(1):153–159. doi: 10.1086/381054

Figure 1.

Figure 1

Family 1, with documented RCC, cardiac PGL, and the germline SDHB R27X mutation. A, Pedigree of family 1. Generation numbers are represented by Roman numerals. Individual numbers are in Arabic numerals. The index patient (proband) is III-1, indicated by the arrow. “Mut+” indicates mutation-positive individuals. B, Sequencing chromatogram representing part of SDHB exon 2. The sequences around codon 27 from a normal control is shown at the top (“Normal”). The germline of the proband showed a heterozygous R27X mutation with a wild-type C and a mutant T (N8168). The tumor DNA shows loss of the wild-type C allele, leaving only the mutant T (T8168). The proband’s mother’s germline (N8104) showed the heterozygous R27X mutation, whereas her tumor (T8104) showed loss of the remaining wild-type allele. (Note that, although the right panel was obtained in reverse sequence, the reverse complement chromatogram, which represents a computer-generated forward sequence, is shown for ease of viewing.)