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. Author manuscript; available in PMC: 2015 Jan 15.
Published in final edited form as: Pediatr Dev Pathol. 2014 Aug 18;17(6):421–430. doi: 10.2350/14-05-1488-OA.1

Figure 8.

Figure 8

Family HRAS sequencing report. Panel A identifies the nucleotide sequence around the c.35–36GC>AA mutation site (double arrow), while panel B represents the region surrounding rs41258054 (single arrow). In each panel, the top 3 chromatograms display PCR sequencing of the family members as indicated. The bottom 2 chromatograms represent allele specific (wild type or mutant) sequencing of the patient. Panel B shows that the patient and his father are G/A, while the mother is homozygous G, making the “A” allele a marker for the paternal germline allele. Allele specific amplification (ASA) used modified primers* targeting the G>A change at c.35. The asterisk denotes a mis-match purposely created in the ASA primer to increase allelic discrimination. The wild type allele carries the maternally inherited “G” SNP allele, while the “A” allele derived from the father is present in the mutant ASA product. This ASA also confirms that both substitutions (c.35 and c.36) are adjacent on the same allele and thus result in the Gly>Glu amino acid change.