The prominent properties of mtDNA such as maternal inheritance, absence of recombination and the high mutation rate make this molecule widely used in population genetics, forensics and medical genetics. Meanwhile, the assignment of mtDNA into haplogroups has become a routine analysis (even a critical prerequisite in the forensic field), which helps researchers to (i) conduct an a posteriori quality control of data, as this recommended analysis is beneficial for detecting five major types of errors in mtDNA data, including base shifts, reference bias, phantom mutations, base misscoring and artefactual recombination ( Bandelt et al., 2001); and (ii) avoid potential pitfalls in mtDNA disease studies ( Yao et al., 2006 and Yao et al., 2009). However, traditional manual haplogroup determination is a daunting task, especially when MitoChip (Maitra et al., 2004) and high throughput next-generation sequencing technologies (Gunnarsdottir et al., 2011) are employed, as these produce a huge amount of mtDNA data. Furthermore, with the aim to provide the most up-to-date version of the mtDNA classification system and avoid some possible conflicts, the mtDNA tree at www.phylotree.org (van Oven and Kayser, 2009) is revised regularly. For the beginner who is not familiar with manual haplogroup determination, the continually expanding mtDNA tree and size of datasets make haplogroup determination ever more challenging.
- Fan, L., & Yao, Y. G. (2013). An update to MitoTool: using a new scoring system for faster mtDNA haplogroup determination. Mitochondrion, 13(4), 360-363.
Peoples: | Places: | Topics: | DNA Type: mtDNA