title: Polymorphisms in the human ornithine transcarbamylase gene useful for allele tracking. Mutations in brief no. 193. Online.
abstract: Sequences of amplified DNA fragments from the ornithine transcarbamylase (OTC) genes were screened for 10 polymorphic single base substitutions in order to determine their frequency in the population. Six of the polymorphisms showed a frequency of 0.02 or less. The remaining four polymorphisms showed a range in frequency from 0.125 to 0.5. Based on the allele frequencies of the four common polymorphisms, we calculated that a female has an 87% chance of being heterozygous for at least one locus. These intragenic sequence variations can be used for tracking of deleterious OTC  alleles whenever the deleterious mutation cannot be found and should also prove useful for prenatal diagnosis.
authors.affiliation: Biochemical Genetics and Metabolism Laboratory, Departments of Pediatrics and Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
authors.forename: R J
authors.initials: RJ
authors.lastname: Plante
authors.forename: M
authors.initials: M
authors.lastname: Tuchman
mesh_terms: D000483:Alleles; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D009954:Ornithine Carbamoyltransferase