title: Finger prick blood testing in Leber hereditary optic neuropathy.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Mackey
authors.forename: S
authors.initials: S
authors.lastname: Nasioulas
authors.forename: S
authors.initials: S
authors.lastname: Forrest
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial; D005192:Family Health; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial