Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient.</p><p><b>METHODS</b>Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.</p><p><b>RESULTS</b>A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.</p><p><b>CONCLUSION</b>The E122G mutation in human OTC gene may cause late onset OTC deficiency.</p>