Rare instances of non-random dropout with the monochrome multiplex qPCR assay for mitochondrial DNA copy number
bioRxiv(2021)
摘要
Mitochondrial DNA copy number (mtDNA-CN) is a proxy for mitochondrial function and has been of increasing interest to the mitochondrial research community. There are a number of ways to measure mtDNA-CN, ranging from qPCR to whole genome sequencing [[1][1]]. A recent article in the Journal of Molecular Diagnostics [[2][2]] described a novel method for measuring mtDNA-CN that is both inexpensive and reproducible. After adapting the assay for use in our lab, we have found it to be reproducible and well-correlated with mtDNA-CN derived from whole genome sequencing. However, certain individuals show poor concordance between the two measures, particularly individuals with qPCR mtDNA-CN measurements >3 standard deviations below the sample mean, which corresponds to roughly 1% of assayed individuals ([Figure 1][3]). After examining whole genome sequencing data, this seems to be due to specific polymorphisms within the D-loop primer region, at positions MT 338, 340, 452, 457, 458, 460, 461, 466, and 467. All individuals with a variant in at least one of these positions have non-concordant mtDNA-CN measurements. Meanwhile, variants observed at other positions within the primer region do not appear to cause dropout.
### Competing Interest Statement
The authors have declared no competing interest.
[1]: #ref-1
[2]: #ref-2
[3]: #F1
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关键词
mitochondrial,monochrome multiplex,rare instances,dna,non-random
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