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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Feb;20(1):19-22.
[Article in Chinese]

Abstract

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Age of Onset
  • Base Sequence
  • Child, Preschool
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Fatal Outcome
  • Female
  • Humans
  • Male
  • Models, Molecular
  • Mutation, Missense
  • Ornithine Carbamoyltransferase / chemistry
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease / enzymology
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease / pathology
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Protein Structure, Secondary

Substances

  • DNA
  • Ornithine Carbamoyltransferase