Abstract
BackgroundProfiling of mitochondrial DNA is surely to provide valuable investigative clues for forensic cases involving highly degraded specimens or complex maternal lineage kinship determination. But traditionally used hypervariable region sequencing of mitochondrial DNA is less frequently suggested by the forensic community for insufficient informativeness. Genome‐wide sequencing of mitochondrial DNA can provide considerable amount of variant information but can be high cost at the same time.MethodsEfficiency of the 60 mitochondrial DNA polymorphic sites dispersing across the control region and coding region of mitochondrial DNA genome was evaluated with 106 Mongolians recruited from the Xinjiang Uyghur Autonomous Region, China, and allele‐specific PCR technique was employed for mitochondrial DNA typing.ResultsAltogether 58 haplotypes were observed and the haplotypic diversity, discrimination power and random match probability were calculated to be 0.981, 0.972, and 0.028, respectively. Mitochondrial DNA haplogroup affiliation exhibited an exceeding percentage (12.26%) of west Eurasian lineage (H haplogroup) in the studied Mongolian group, which needed to be further verified with more samples. Furthermore, the genetic relationships between the Xinjiang Mongolian group and the comparison populations were also investigated and the genetic affinity was discovered between the Xinjiang Mongolian group and the Xinjiang Kazak group in this study.ConclusionIt was indicated that the panel was potentially enough to be used as a supplementary tool for forensic applications. And the matrilineal genetic structure analyses based on mitochondrial DNA variants in the Xinjiang Mongolian group could be helpful for subsequent anthropological studies.
Highlights
Well‐known properties like small genome size, maternal inheritance, high mutation rate and free from recombination (Cavalli‐Sforza & Feldman, 2003) make mitochondrial DNA being the research hotspot in widespread scientific fields, which include evolutionary anthropology (Blau et al, 2014; Torroni, Achilli, Macaulay, Richards, & Bandelt, 2006; Underhill & Kivisild, 2007), archaeology (Ko et al, 2014; Rothhammer, Fehren‐Schmitz, Puddu, & Capriles, 2017), medical genetics (Howlett et al, 2017; Taylor & Turnbull, 2005) and forensic science (Poletto, Malaghini, Silva, Bicalho, & Braun‐Prado, 2018; Woerner et al, 2018)
The variant of each polymorphic site was determined by referring to the Revised Cambridge Reference Sequence (Andrews et al, 1999) and each of the genotyping result was manually checked, and the haplogroup affiliation of the studied Xinjiang Mongolian group was assigned by the online software HaploGrep version 2.0 (Weissensteiner et al, 2016) and a phylogenetic tree was simultaneously generated by PhyloTree Built 17
In this study, we focused on the panel composed of 60 mitochondrial DNA (mtDNA) polymorphic sites dispersed across the control region (CR) and coding region of the mtDNA genome to investigate the population diversity and to further evaluate the applicable potency of this panel in the Xinjiang Mongolian group as a supplementary tool for traditional short tandem repeat (STR) loci
Summary
Well‐known properties like small genome size, maternal inheritance, high mutation rate and free from recombination (Cavalli‐Sforza & Feldman, 2003) make mitochondrial DNA (mtDNA) being the research hotspot in widespread scientific fields, which include evolutionary anthropology (Blau et al, 2014; Torroni, Achilli, Macaulay, Richards, & Bandelt, 2006; Underhill & Kivisild, 2007), archaeology (Ko et al, 2014; Rothhammer, Fehren‐Schmitz, Puddu, & Capriles, 2017), medical genetics (Howlett et al, 2017; Taylor & Turnbull, 2005) and forensic science (Poletto, Malaghini, Silva, Bicalho, & Braun‐Prado, 2018; Woerner et al, 2018). Numerous studies have demonstrated that mtDNA sequence variations accumulated sequentially are unquestionably capable of providing worthy information on genetic structure and phylogenetic relationship of populations (Fagundes et al, 2008; Schaan et al, 2017; Torroni et al, 1993). With the development of sequencing technique methods, the profiling of mtDNA has been transformed from traditionally used Sanger sequencing technology of the control region (CR) to gradually prevalent massively parallel sequencing (MPS) of the complete mtDNA genome in order to get more adequate haplogroup assignment of studied populations (King et al, 2014; Lyons, Scheible, Sturk‐Andreaggi, Irwin, & Just, 2013). Forensic scientists devoted to the exploitation of mtDNA‐based panels capable of satisfying the demand of high polymorphisms and platform compacity to contribute to the mtDNA genetic diversity studies. The haplogroup distribution of the Xinjiang Mongolian group as well as the interpopulation genetic relationships between the Mongolian group and the other comparison populations was investigated based on the genotyping results of the 60 polymorphic sites. Datasets of the comparison populations African American (King et al, 2014), Caucasian (King et al, 2014), Dane (Lopopolo, Borsting, Pereira, & Morling, 2016), Estonian (Stoljarova, King, Takahashi, Aaspollu, & Budowle, 2016), Iranian (Derenko et al, 2013), Japanese (Zheng et al, 2011), Denver Han (Zheng et al, 2011), Beijing Han (Zheng et al, 2011), Southern Han (Zheng et al, 2011), Sherpa (Kang et al, 2013), Hakka (Ko et al, 2014), Minnan Han (Ko et al, 2014), Xinjiang Kazak (Xie et al, 2019) were collected from previously published literatures
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