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Molecules. 2018 Feb 3;23(2). pii: E323. doi: 10.3390/molecules23020323.

Recent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations.

Author information

1
State Key Lab of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China. 220163884@seu.edu.cn.
2
State Key Lab of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China. jtu@seu.edu.cn.
3
State Key Lab of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China. zhlu@seu.edu.cn.

Abstract

The co-existence of wild-type and mutated mitochondrial DNA (mtDNA) molecules termed heteroplasmy becomes a research hot point of mitochondria. In this review, we listed several methods of mtDNA heteroplasmy research, including the enrichment of mtDNA and the way of calling heteroplasmic variations. At the present, while calling the novel ultra-low level heteroplasmy, high-throughput sequencing method is dominant while the detection limit of recorded mutations is accurate to 0.01% using the other quantitative approaches. In the future, the studies of mtDNA heteroplasmy may pay more attention to the single-cell level and focus on the linkage of mutations.

KEYWORDS:

heteroplasmy; mitochondria; mtDNA; next generation sequencing

PMID:
29401641
PMCID:
PMC6017848
DOI:
10.3390/molecules23020323
[Indexed for MEDLINE]
Free PMC Article

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