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Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria
Karolinska Institutet. (Molecular Structural Biology)
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2008 (English)In: Nucleosides, Nucleotides & Nucleic Acids, ISSN 1525-7770, E-ISSN 1532-2335, Vol. 27, no 6-7, 809-815 p.Article in journal (Refereed) Published
Abstract [en]

A patient with hematuria was shown to have thymine-uraciluria. The dihydropyrimidine dehydrogenase (DPD) activity in peripheral blood mononuclear cells was 0.16 nmol/mg/h; controls: 9.9 +/- 2.8 nmol/mg/h. Analysis of DPYD showed that the patient was compound heterozygous for the novel mutations 237C > A (C79X) in exon 4 and 704G > A (R235Q) in exon 7. The nonsense mutation (C79X) leads to premature termination of translation and thus to a non-functional protein. Analysis of the crystal structure of pig DPD suggested that the R235Q mutation might interfere with the binding of FAD and the electron flow between the NADPH and the pyrimidine substrate site of DPD.

Place, publisher, year, edition, pages
2008. Vol. 27, no 6-7, 809-815 p.
National Category
Medical Genetics
URN: urn:nbn:se:uu:diva-214423DOI: 10.1080/15257770802146247ISI: 000257338600044PubMedID: 18600544OAI: oai:DiVA.org:uu-214423DiVA: diva2:684912
12th International Symposium on Purine and Pyrimidine Metabolism; 24-28 June 2007; Chicago, IL, USA
Available from: 2014-01-08 Created: 2014-01-08 Last updated: 2014-01-15Bibliographically approved

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