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Updated: Jun 25, 2026
07:24
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[Mitochondrial DNA coding region 3954-4506 polymorphism in Korean Chinese population]
Yong-ji Zhang1, Jing-nan Xu, Mei-hua Zhang
1Department of Forensic Medicine, School of Medicine, Yanbian University, Yanji, Jilin, 133000 PR China. zhangyj@ybu.edu.cn
Summary
Mitochondrial DNA (mtDNA) coding region polymorphisms in Korean Chinese individuals reveal valuable genetic markers. These findings support forensic applications for personal identification in this population.
Area of Science:
- Genetics
- Forensic Science
Background:
- Mitochondrial DNA (mtDNA) is crucial for human identification due to its high copy number and maternal inheritance.
- Understanding population-specific mtDNA variations is essential for accurate forensic analysis.
Purpose of the Study:
- To investigate sequence polymorphisms in the mtDNA coding region (nt3954-4506) within the Yanbian Korean Chinese population.
- To assess the utility of these polymorphisms as genetic markers for forensic identification.
Main Methods:
- Polymerase chain reaction (PCR) amplification and direct sequencing were employed.
- Analysis was conducted on 198 unrelated Korean Chinese individuals from the Yanbian area.
Main Results:
- Twenty-one distinct haplotypes were identified among the 198 individuals.
- Genetic diversity was calculated at 0.5906, with a random match probability of 0.4124.
- Nineteen nucleotide variants were detected compared to the Andersonos sequence, including 5 novel variants and 14 previously registered in MITOMAP.
Conclusions:
- The identified sequence polymorphisms in the mtDNA coding region serve as effective genetic markers.
- These markers, when combined with mtDNA control region data, enhance personal identification capabilities.
- The study provides foundational data for forensic applications in the Korean Chinese population.
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