Clinical application of DNA analysis in a family with OTC deficiency.
We describe the clinical application of DNA restriction fragment analysis to the genetic evaluation of a family with a child deficient in ornithine transcarbamylase (OTC). The results of protein loading studies and the interpretation of the DNA haplotype profiles for the human OTC gene are reported. DNA restriction fragment analysis may be a reliable technique for the prenatal diagnosis of OTC deficiency and identification of obligate carriers of this gene.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis; D011506:Proteins / Q000378:metabolism; D014960:X Chromosome
D011506:Proteins