Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression
| Autor: | A. H. van Gennip, R.A. de Abreu, A. B. P. Van Kuilenburg, Peter Vreken, Rutger Meinsma |
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| Přispěvatelé: | Faculteit der Geneeskunde, Other departments |
| Rok vydání: | 1997 |
| Předmět: |
Male
Central Nervous System Purine-Pyrimidine Metabolism Inborn Errors medicine.disease_cause Cardiovascular Polymerase Chain Reaction Genotype-phenotype distinction Neural Tube Defects Metabolic Processes (Non MeSH) Frameshift Mutation GeneralLiterature_REFERENCE(e.g. dictionaries encyclopedias glossaries) Genetics (clinical) Hereditary Diseases Netherlands Sequence Deletion Genetics Mutation Inborn Errors Mental Disorders Homozygote Mitochondrial Myopathies Skeletal Neuromuscular Diseases Phenotype Mitochondria Chemistry Child Preschool Muscle Female Homocystinuria Oxidoreductases Adult DNA Complementary Sequence analysis Pregnancy Complications Cardiovascular Inborn errors of metabolism Biology Biochemical Frameshift mutation Clinical Metabolic Diseases Seizures medicine Dihydropyrimidine dehydrogenase Humans Genetics Biochemical Vascular Diseases Uracil Muscle Skeletal Erfelijke stofwisselingsziekten Gene Dihydrouracil Dehydrogenase (NADP) Repetitive Sequences Nucleic Acid Models Genetic Fibroblasts Purine/pyrimidine metabolism Pregnancy Complications Metabolism Protein Biosynthesis Chemistry Clinical sense organs Energy Metabolism Metabolism Inborn Errors |
| Zdroj: | Human Genetics, 100, pp. 263-265 Human Genetics, 100, 2, pp. 263-265 Human Genetics, 100, 263-265 Human Genetics, 100, 263-265. Springer Verlag Human genetics, 100(2), 263-265. Springer Verlag |
| ISSN: | 0340-6717 |
| Popis: | Dihydropyrimidine dehydrogenase catalyzes the first and rate-limiting step in the breakdown of thymine, uracil, and the widely used antineoplastic drug, 5-fluorouracil. Sequence analysis of the dihydropyrimidine dehydrogenase cDNA in a Dutch consanguineous family identified a novel four-base deletion (delTCAT296–299) leading to premature termination of translation. The deletion is located in a TCAT tandem-repeat sequence and most likely results from unequal crossing-over or slipped mispairing. In this family we identified three homozygous individuals for this mutation. Two of these showed convulsive disorders but one was clinically normal. This observation suggests that, at least in this family, there is no clear correlation between the dihydropyrimidine dehydrogenase genotype and phenotype. |
| Databáze: | OpenAIRE |
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