Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene.
- Author:
Hua GAO
1
;
Wei LI
;
Zong-he YAN
;
Mei-hua JIANG
;
De-rong RUI
;
Yun-shao HE
Author Information
- Publication Type:Case Reports
- MeSH: Age of Onset; Base Sequence; Child, Preschool; DNA; chemistry; genetics; DNA Mutational Analysis; Family Health; Fatal Outcome; Female; Humans; Male; Models, Molecular; Mutation, Missense; Ornithine Carbamoyltransferase; chemistry; genetics; Ornithine Carbamoyltransferase Deficiency Disease; enzymology; genetics; pathology; Pedigree; Polymorphism, Single-Stranded Conformational; Protein Structure, Secondary
- From: Chinese Journal of Medical Genetics 2003;20(1):19-22
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSPolymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.
RESULTSA missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.
CONCLUSIONThe E122G mutation in human OTC gene may cause late onset OTC deficiency.
