title: Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
abstract: Direct gene analysis was used in the prenatal exclusion of ornithine transcarbamylase (OTC) deficiency; karyotyping the family's previously affected child had already identified the defect as a small deletion. A cloned OTC gene and two other X chromosome-specific probes were mixed, and hybridised to fetal DNA obtained from cultured amniocytes; the fetus was shown to be a normal male.
authors.forename: J M
authors.initials: JM
authors.lastname: Old
authors.forename: P L
authors.initials: PL
authors.lastname: Briand
authors.forename: S
authors.initials: S
authors.lastname: Purvis-Smith
authors.forename: N J
authors.initials: NJ
authors.lastname: Howard
authors.forename: B
authors.initials: B
authors.lastname: Wilcken
authors.forename: J
authors.initials: J
authors.lastname: Hammond
authors.forename: P
authors.initials: P
authors.lastname: Pearson
authors.forename: L
authors.initials: L
authors.lastname: Cathelineau
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D000328:Adult; D000650:Amnion / Q000166:cytology; D002478:Cells, Cultured; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA; D009954:Ornithine Carbamoyltransferase; D004262:DNA Restriction Enzymes