Fig. 1: Nucleotide sequence and semiquantitative analysis of the OTC gene.
From: Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
a The results of a direct sequencing analysis of the OTC gene using genomic DNA from lymphocytes of the patient and his mother. Upper figure: Direct sequencing analysis revealed two different types of alleles: the wild-type and the mutant alleles with a frameshift mutation (c.834_840delCCAGGCT). Lower figure: Only the wild-type allele was identified in his mother. b Semiquantitative analysis using the GeneMapper software for lymphocytes and oral mucosa. The mutant allele was in 60.38 and 65.19% of the lymphocytes and oral mucosa cells, respectively
