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. Author manuscript; available in PMC: 2010 Feb 1.
Published in final edited form as: Am J Med Genet A. 2009 Mar;149A(3):315–321. doi: 10.1002/ajmg.a.32639

Figure 1. Genotyping status of HRAS in family members as detected by direct sequencing.

Figure 1

Buccal cell genomic DNA was collected from Patient 1 (A), Patient 2 (B and C, two independently collected samples) and Patient 1’s mother (D). Patient 1 shows a heterozygous c.34G>A change, causing a G12S mutation, while Patient 2 carries low levels of the mutated allele. Father (B) and child (A) are heterozygous C/T at the −10 SNP, while the mother (D) is homozygous C and carries a wild type c.34G base.