Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.
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.
Hata
A
A
Department of Biochemistry, Kumamoto University Medical School, Japan.
Setoyama
C
C
Shimada
K
K
Takeda
E
E
Kuroda
Y
Y
Akaboshi
I
I
Matsuda
I
I
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
D006147:Guanine; D003596:Cytosine; D009954:Ornithine Carbamoyltransferase