Finger prick blood testing in Leber hereditary optic neuropathy
| Autor: | Susan M. Forrest, David A. Mackey, S Nasioulas |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Mitochondrial DNA
Pathology medicine.medical_specialty LEBER HEREDITARY OPTIC NEUROPATHY genetic structures DNA Mutational Analysis Molecular Sequence Data medicine.disease_cause DNA Mitochondrial Polymerase Chain Reaction law.invention Cellular and Molecular Neuroscience Atrophy Optic Atrophies Hereditary law medicine Humans Genetic Testing Polymerase chain reaction Finger prick Genetic testing Family Health Mutation Base Sequence medicine.diagnostic_test business.industry medicine.disease eye diseases Sensory Systems Ophthalmology Optic nerve business Research Article |
| Zdroj: | British Journal of Ophthalmology. 77:311-312 |
| ISSN: | 0007-1161 |
| DOI: | 10.1136/bjo.77.5.311 |
| Popis: | Individuals from 33 unrelated Australian families with optic atrophy were screened for 10 different single base alterations in mitochondrial DNA (mtDNA) associated with Leber hereditary optic neuropathy (LHON) using direct polymerase chain reaction amplification of blood spots collected on Guthrie cards. This method using blood spots allows easily accessible screening for LHON mtDNA mutations with minimal biohazard risk and reduced expense in the storage and transport of specimens. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|