DNA analysis of ornithine transcarbamylase deficiency
- PMID: 2899508
- DOI: 10.1007/BF00496412
DNA analysis of ornithine transcarbamylase deficiency
Abstract
By analysing the restriction fragment length polymorphism (RFLP) detected by an ornithinetranscarbamylase (OTC) gene specific DNA probe, we followed the segregation of the defective gene in two families with OTC deficiency (X-linked disease). We were able to exclude some female family members as carriers. In one case a doubtful result obtained in a biochemical carrier detection test (by examining the renal orotic acid excretion after a protein load) could be clarified by DNA analysis. In every family with OTC deficiency, carrier detection should be biochemical with additional DNA analysis. Previous results of the biochemical carrier test should be controlled by DNA analysis, especially when "normal" results were obtained.
Similar articles
-
Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.Hum Genet. 1993 May;91(4):321-5. doi: 10.1007/BF00217350. Hum Genet. 1993. PMID: 8099056
-
[Genetic counseling in ornithine carbamoyltransferase deficiency].Ann Biol Clin (Paris). 1988;46(7):455-9. Ann Biol Clin (Paris). 1988. PMID: 2903704 French.
-
Family studies in ornithine transcarbamylase deficiency.Arch Dis Child. 1988 Mar;63(3):297-302. doi: 10.1136/adc.63.3.297. Arch Dis Child. 1988. PMID: 3355210 Free PMC article.
-
[Congenital deficiency of ornithine transcarbamylase. Description of 2 clinical cases].Minerva Pediatr. 1983 Mar 15;35(5):219-24. Minerva Pediatr. 1983. PMID: 6343831 Review. Italian. No abstract available.
-
[Ornithine transcarbamylase deficiency. Biochemical studies in the diagnosis of 4 cases and the identification of carriers].An Esp Pediatr. 1991 May;34(5):360-4. An Esp Pediatr. 1991. PMID: 1883110 Review. Spanish.
Cited by
-
Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis.J Inherit Metab Dis. 1990;13(6):888-90. doi: 10.1007/BF01800215. J Inherit Metab Dis. 1990. PMID: 1981921 No abstract available.