title: New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis.
abstract: Ornithine transcarbamylase (OTC) deficiency, transmitted as an X-linked trait, is the most common disorder of the urea cycle. At least 3.5% out of more than 230 mutations consist of large gene deletions, involving one or more exons. Only in 78% of OTC patients the diagnosis was confirmed on DNA level. We analysed OTC intragenic polymorphisms and haplotypes, in an attempt to contribute to the clarification of unresolved cases, in three populations (Czech, Portuguese, and Mozambican) and identified six novel nucleotide changes, all of them occurring with frequency higher than 12.5% in Europeans. Five of these polymorphisms occur with a significant frequency also in Africans. The number and frequency of haplotypes defined with the newly reported markers differ in individual populations.
authors.affiliation: IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Portugal.
authors.forename: Luísa
authors.initials: L
authors.lastname: Azevedo
authors.forename: Larisa
authors.initials: L
authors.lastname: Stolnaja
authors.forename: Evzenie
authors.initials: E
authors.lastname: Tietzeova
authors.forename: Martin
authors.initials: M
authors.lastname: Hrebicek
authors.forename: Eva
authors.initials: E
authors.lastname: Hruba
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Lenka
authors.initials: L
authors.lastname: Dvorakova
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005819:Genetic Markers; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D009954:Ornithine Carbamoyltransferase