Differentiating between monozygotic twins through next-generation mitochondrial genome sequencing

Analytical Biochemistry
Zheng WangChengtao Li

Abstract

Monozygotic (MZ) twins, considered to be genetically identical, cannot be distinguished from one another by standard forensic DNA testing. A recent study employed whole genome sequencing to identify extremely rare mutations and reported that mutation analysis could be used to differentiate between MZ twins. Compared with nuclear DNA, mitochondrial DNA (mtDNA) has higher mutation rates; therefore, minor differences theoretically exist in MZ twins' mitochondrial genome (mtGenome). However, conventional Sanger-type sequencing (STS) is neither amenable to, nor feasible for, the detection of low-level sequence variants. The recent introduction of massively parallel sequencing (MPS) has the capability to sequence many targeted regions of multiple samples simultaneously with desirable depth of coverage. Thus, the aim of this study was to assess whether full mtGenome sequencing analysis can be used to differentiate between MZ twins. Ten sets of MZ twins provided blood samples that underwent extraction, quantification, mtDNA enrichment, library preparation, and ultra-deep sequencing. Point heteroplasmies were observed in eight sets of MZ twins, and a single nucleotide variant (nt15301) was detected in five sets of MZ twins. Thus, this s...Continue Reading

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Citations

Jun 28, 2016·Molecular Neurobiology·Hong LiYong-Gang Yao
Dec 21, 2018·PLoS Genetics·Michael KrawczakBurkhard Rolf
Dec 31, 2020·Diagnostics·Anna RocchiIsabella Spinetti
Oct 13, 2019·Forensic Science International. Genetics·Lijuan YuanYuanming Wu

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