Article
New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis.
Molecular genetics and metabolism - 1 Feb 2003
Azevedo Luísa, Stolnaja Larisa, Tietzeova Evzenie, Hrebicek Martin, Hruba Eva, Vilarinho Laura, Amorim António, Dvorakova Lenka
Abstract excerpt
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...
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