Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency
| Autor: | Ingeborg Liebaers, D. Chaigne, L. De Meirleir, Wim Ruitenbeek, Sara Seneca, Willy Lissens, O. P. van Diggelen, B. T. Poll-The, Vincent Ramaekers, C Benelli, Cécile Marsac, Paz Briones |
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| Přispěvatelé: | Department of Embryology and Genetics, Pediatrics, Other departments |
| Rok vydání: | 1996 |
| Předmět: |
Genetics
Energy metabolism in human skeletal muscle Point mutation Pyruvate Dehydrogenase (Lipoamide) Single-strand conformation polymorphism Biology Pyruvate dehydrogenase complex Molecular biology Reverse transcriptase chemistry.chemical_compound Real-time polymerase chain reaction chemistry Energievoorziening in de menselijke spier onder fysiologische en pathologische condities PHDc E1 alpha gene Gene GeneralLiterature_REFERENCE(e.g. dictionaries encyclopedias glossaries) DNA Genetics (clinical) |
| Zdroj: | Human Mutation, 7, 46-51 Human mutation, 7(1), 46-51. Wiley-Liss Inc. Vrije Universiteit Brussel Human Mutation, 7, 1, pp. 46-51 Human Mutation, 7, pp. 46-51 |
| ISSN: | 1098-1004 1059-7794 |
| DOI: | 10.1002/(sici)1098-1004(1996)7:1<46::aid-humu6>3.3.co;2-2 |
| Popis: | Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E ^ gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of the gene and single-strand conformation polymorphism (SSCP) analysis. With this method, we studied eight patients with a PDH complex deficiency, using cultured fibroblasts. In all patients, aberrant SSCP patterns were found and, after sequencing of the corresponding fragments, we were able to identify six new mutations and two mutations already described previously. The mutations are point mutations leading to amino acid substitutions (5) and direct repeat insertions (3). The presence of the mutations was confirmed in genomic fibroblast DNA* The 4 female patients were shown to carry both a normal and a mutated Exa gene. © 1996 Wiley^Liss, Inc, k e y w o r d s : Pyruvate dehydrogenase Eta, RT-PCR, SSCP, Mutation analysis |
| Databáze: | OpenAIRE |
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