PMC6095930_01
Nucleotide sequence and semiquantitative analysis of the OTC gene.. 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
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Fig1
OTC gene (Fig. 1a), revealing two different types of alleles, including a wild type and mutant with a frameshift mutation (c.834_840delCCAGGCT), in the patient. Only the wild-type allele was identified in the patient's mother (Fig. 1a). Therefore, we performed semiquantitative analysis using GeneMapper software to determine the mosaic ratio in the lymphocytes and oral mucosa. The mosaic ratio was 60.38% in the lymphocytes and 65.19% in the oral mucosa (Fig. 1b).