title: Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.
abstract: We analyzed DNA from 13 males with ornithine transcarbamylase (OTC) deficiency for gene deletions and known point mutations using the polymerase chain reaction (PCR), allelle-specific oligonucleotide (ASO) hybridization, and Southern blotting with full-length OTC cDNA and exon-specific probes. Three patients were found to have deletions: one was missing the whole OTC gene; a second patient had a deletion of both exon 7 and 8; and the third had a deletion of exon 9. Only one of the remaining 10 patients had a known point mutation consisting of a G-to-A change in nucleotide 422 of the sense strand resulting in a glutamine substitution for arginine at amino acid 109 of the mature OTC protein. This study describes the integration of various molecular methods to screen OTC-deficient patients for deletions and points mutations. Two new deletions within the OTC gene are described.
authors.affiliation: Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455.
authors.forename: P J
authors.initials: PJ
authors.lastname: Suess
authors.forename: M Y
authors.initials: MY
authors.lastname: Tsai
authors.forename: R A
authors.initials: RA
authors.lastname: Holzknecht
authors.forename: M
authors.initials: M
authors.lastname: Horowitz
authors.forename: M
authors.initials: M
authors.lastname: Tuchman
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA; D009954:Ornithine Carbamoyltransferase