title: Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.
abstract: To define the molecular basis for the TaqI site alteration in the ornithine transcarbamylase (OTC) (E.C.2.1.3.3) gene of a female patient with mild OTC deficiency, we used a combination of genomic amplification followed by direct sequencing and oligodeoxyribonucleotide hybridization. We obtained evidence for a C-to-T substitution in exon 5 (codon 141) of this gene. This mutation generates a stop codon, in place of Arg, at amino acid 109 of the mature OTC protein. The mutation arose, de novo, in a germ cell of one of the parents.
authors.affiliation: Department of Biochemistry, Kumamoto University Medical School, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Hata
authors.forename: C
authors.initials: C
authors.lastname: Setoyama
authors.forename: K
authors.initials: K
authors.lastname: Shimada
authors.forename: E
authors.initials: E
authors.lastname: Takeda
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
authors.forename: I
authors.initials: I
authors.lastname: Akaboshi
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D015139:Blotting, Southern; D003596:Cytosine; D005091:Exons; D005260:Female; D005796:Genes; D006147:Guanine; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree
chemical_list: D006147:Guanine; D003596:Cytosine; D009954:Ornithine Carbamoyltransferase