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.
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Authors | P J Suess, M Y Tsai, R A Holzknecht, M Horowitz, M Tuchman |
Journal | Biochemical medicine and metabolic biology
(Biochem Med Metab Biol)
Vol. 47
Issue 3
Pg. 250-9
(Jun 1992)
ISSN: 0885-4505 [Print] United States |
PMID | 1627356
(Publication Type: Journal Article)
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Chemical References |
- DNA
- Ornithine Carbamoyltransferase
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Topics |
- Base Sequence
- Blotting, Southern
- Child
- Chromosome Deletion
- DNA
(analysis)
- Humans
- Infant
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Ornithine Carbamoyltransferase
(genetics)
- Ornithine Carbamoyltransferase Deficiency Disease
- Polymerase Chain Reaction
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