Journal article

A false-positive diagnosis for the common MELAS (A3243G) mutation caused by a novel variant (A3426G) in the ND1 gene of mitochondria DNA

DM Kirby, T Milovac, DR Thorburn

MOLECULAR DIAGNOSIS | CHURCHILL LIVINGSTONE INC MEDICAL PUBLISHERS | Published : 1998

Abstract

Background: Several mutations in mitochondrial DNA (mtDNA) are associated with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). The 'common' MELAS mutation, A3243G in the tRNA leucine (UUR) gene, affects approximately 80% of cases and is associated with respiratory chain complex I deficiency. Methods and Results: The A3243G mutation creates an ApaI restriction endonuclease site and can be detected by polymerase chain reaction (PCR) amplification of a region of mtDNA containing nt 3243, followed by ApaI digestion and electrophoretic analysis of the resulting fragments. Analysis of mtDNA from a child with complex I deficiency indicated ..

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