Mitochondrial DNA analysis technologies and their forensic applications
10.13618/j.issn.1001-5728.2025.02.016
- VernacularTitle:人类mtDNA分析技术及其法医学应用探讨
- Author:
Jing LIU
1
;
Lirong JIANG
1
;
Yiping HOU
1
;
Zheng WANG
1
Author Information
1. 四川大学华西基础医学与法医学院,四川 成都 610041
- Publication Type:Journal Article
- Keywords:
Forensic genetics;
Mitochondrial genomics;
DNA sequencing technologies;
Haplotype;
Heterogeneity
- From:
Chinese Journal of Forensic Medicine
2025;40(2):220-225
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondrial DNA(mtDNA)is a critical target in forensic genetic analysis,playing a pivotal role in deciphering population genetic structures,tracing maternal lineages,identifying complex kinship relationships,and deconvoluting mixed biological samples.For aged or severely degraded biological specimens where nuclear DNA profiling is impossible,mtDNA may emerge as the sole detectable DNA source due to its unique circular structure and multi-copy characteristics.With the continuous advancement of DNA sequencing technologies,mtDNA analysis has evolved from first-generation sequencing focusing on the control region to whole-genome approaches in second-generation sequencing,simultaneously enhancing haplotype resolution and promoting forensic mtDNA applications.Recently,long-read third-generation sequencing technologies have introduced a novel methodological paradigm for mtDNA analysis,enabling non-spliced acquisition of mtDNA control regions or full sequences.This approach not only mitigates the potential interference from nuclear-mitochondrial DNA sequences but also significantly improves heterogeneity recognition rates.This review will elucidate the principles of various sequencing technologies and comprehensively examine the research progress and applications of mtDNA in forensic science,including individual identification,kinship verification,mixed sample detection,and biogeographic ancestry inference,with the aim of providing valuable insights for future research and practical implementations.
