[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.


CONCLUSIONS
The E122G mutation in human OTC gene may cause late onset OTC deficiency.
Gao
Hua
H
Da-An Gene Diagnostic Center, Sun Yat-Sen University, Guangzhou, Guangdong, PR China.
Li
Wei
W
Yan
Zong-he
ZH
Jiang
Mei-hua
MH
Rui
De-rong
DR
He
Yun-shao
YS
D017668:Age of Onset; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D009954:Ornithine Carbamoyltransferase / Q000737:chemistry / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017433:Protein Structure, Secondary
D004247:DNA; D009954:Ornithine Carbamoyltransferase