A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency
| ISSN: | 1573-2665 0141-8955 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ed951602759fe47858248000143df9 https://doi.org/10.1007/bf01799841 |
| Rights: | RESTRICTED |
| Přírůstkové číslo: | edsair.doi.dedup.....82ed951602759fe47858248000143df9 |
| Autor: | Gerrit Smit, Henk D. Bakker, A. B. P. Van Kuilenburg, Rutger Meinsma, A. H. van Gennip, Peter Vreken, R.A. de Abreu |
| Přispěvatelé: | Other departments |
| Rok vydání: | 1996 |
| Předmět: |
Male
Central Nervous System Purine-Pyrimidine Metabolism Inborn Errors BLOOD LIVER Lymphoma Antimetabolites Nervous System Neoplasms Child Behavior Cardiovascular Polymerase Chain Reaction 5-FLUOROURACIL TOXICITY Dihydropyrimidine dehydrogenase deficiency Exon Neural Tube Defects Metabolic Processes (Non MeSH) Hereditary Diseases Genetics (clinical) Netherlands Ultrasonography Genetics Splice site mutation Inborn Errors Mental Disorders Homozygote Mitochondrial Myopathies Peripheral Nervous System Diseases JUNCTIONS Skeletal Exons Neuromuscular Diseases THYMINE-URACILURIA Antineoplastic Pedigree Mitochondria Chemistry Restriction site Pharmacology Clinical Muscle Female Homocystinuria Kidney Diseases Pediatric Oncology. Treatment of children with cancer Oxidoreductases Polymorphism Restriction Fragment Length Antimetabolites Antineoplastic Hypothalamo-Hypophyseal System DNA Complementary RNA Splicing Molecular Sequence Data Pregnancy Complications Cardiovascular Inborn errors of metabolism Biology Child Nutrition Disorders Biochemical Clinical Metabolic Diseases medicine Dihydropyrimidine dehydrogenase Humans Point Mutation Clinical Trials Genetics Biochemical Amino Acid Sequence RNA Messenger Vascular Diseases Kinderoncologie. Behandeling van kinderen met kanker Erfelijke stofwisselingsziekten Muscle Skeletal Vinca Alkaloids Dihydrouracil Dehydrogenase (NADP) DNA Primers MONONUCLEAR-CELLS Pharmacology IDENTIFICATION Base Sequence Point mutation DEGRADATION Fibroblasts medicine.disease GENE Myocardial Contraction Introns Exon skipping Pregnancy Complications Restriction enzyme Metabolism Chemistry Clinical Mutation Energy Metabolism Metabolism Inborn Errors |
| Zdroj: | Journal of Inherited Metabolic Disease, 19, 645-654 Journal of Inherited Metabolic Disease, 19, pp. 645-654 Journal of inherited metabolic disease, 19(5), 645-654. Springer Netherlands Journal of Inherited Metabolic Disease, 19(5), 645-654. SPRINGER |
| ISSN: | 1573-2665 0141-8955 |
| Popis: | Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterized by thymine-uraciluria and associated with a variable clinical phenotype. In order to identify the molecular defect underlying complete DPD deficiency in a Dutch patient previously shown to have a 165 base pair deletion in the mature DPD mRNA, we cloned the genomic region encompassing the skipped exon and its flanking intron sequences. Sequence analysis revealed that the patient was homozygous for a single G --> A point mutation in the invariant GT dinucleotide splice donor site downstream of the skipped exon. The same mutation was identified in another, unrelated, Dutch patient. Because this mutation destroys a unique MaeII restriction site, rapid screening using restriction enzyme cleavage of the amplified genomic region encompassing this mutation is possible. Analysis of 50 controls revealed no individuals heterozygous for this mutation |
| Databáze: | OpenAIRE |
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