Finger prick blood testing in Leber hereditary optic neuropathy.
作者： D Mackey , S Nasioulas , S Forrest
DOI: 10.1136/BJO.77.5.311
关键词:
摘要: Individuals from 33 unrelated Australian families with optic atrophy were screened for 10 different single base alterations in mitochondrial DNA (mtDNA) associated Leber hereditary neuropathy (LHON) using direct polymerase chain reaction amplification of blood spots collected on Guthrie cards. This method allows easily accessible screening LHON mtDNA mutations minimal biohazard risk and reduced expense the storage transport specimens.
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