title: Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency.
abstract: Complementary and genomic DNA clones corresponding to human ornithine transcarbamylase (OTC) have been isolated and analyzed. Restriction fragment length polymorphisms (RFCPs) on OTC gene locus were analyzed in Japanese female population. Based on these data, a prenatal diagnosis of OTC deficiency was carried out in a risk family. A C-to-T substitution was found in exon 5 of OTC gene is an another female patient.
authors.affiliation: Department of Pediatrics, Kumamoto University Medical School, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
authors.forename: A
authors.initials: A
authors.lastname: Hata
authors.forename: T
authors.initials: T
authors.lastname: Matsuura
authors.forename: T
authors.initials: T
authors.lastname: Tsuzuki
authors.forename: K
authors.initials: K
authors.lastname: Shimada
mesh_terms: D004247:DNA / Q000032:analysis*; D005260:Female; D006801:Humans; D007223:Infant; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015183:Restriction Mapping
chemical_list: D004247:DNA; D009954:Ornithine Carbamoyltransferase