[Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].

OBJECTIVE

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.

METHODS

Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.

RESULTS

A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.

CONCLUSION

The E122G mutation in human OTC gene may cause late onset OTC deficiency.