Open AccessDetection and Quantification of Heteroplasmic Mutant Mitochondrial DNA by Real-Time Amplification Refractory Mutation System Quantitative PCR Analysis: A Single-Step Approach
Author(s) -
Renkui Bai,
LeeJun C. Wong
Publication year - 2004
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2004.031153
Subject(s) - heteroplasmy , mitochondrial dna , biology , melas syndrome , microbiology and biotechnology , mutant , mitochondrial myopathy , mutation , point mutation , polymerase chain reaction , genetics , restriction fragment length polymorphism , gene
The A3243G mitochondrial tRNA leu(UUR) point mutation causes mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the most common mitochondrial DNA (mtDNA) disorder, and is also found in patients with maternally inherited diabetes and deafness syndrome (MIDD). To correlate disease manifestation with mutation loads, it is necessary to measure the percentage of the A3243G mtDNA mutation.
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