title: Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.
abstract: We examined the DNA in two families with ornithine transcarbamoylase (OTC) deficiency. Two point mutations of the OTC gene, a C-to-T (codon 141) and a G-to-A (codon 141), were identified. This allowed prenatal monitoring to be made for two fetuses in each family, using polymerase chain reaction (PCR), followed by allele-specific oligonucleotide hybridization or TaqI digestion of amplified sequence. The diagnoses showed heterozygotes of a wild type gene and the corresponding mutant gene in these fetuses; each was confirmed postnatally.
authors: Department of Pediatrics, Kumamoto University School of Medicine, Japan.
authors: T
authors: T
authors: Matsuura
authors: R
authors: R
authors: Hoshide
authors: M
authors: M
authors: Fukushima
authors: T
authors: T
authors: Sakiyama
authors: M
authors: M
authors: Owada
authors: I
authors: I
authors: Matsuda
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis*; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D015151:Immunoblotting; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA