Mitochondrial DNA analysis of Swedish population samples

Area of Science:

• Forensic genetics
• Population genetics
• Human genomics

Background:

• The EMPOP (European Mitochondrial DNA Polymorphism) database is a crucial resource for forensic investigations.
• Expanding the geographic coverage of EMPOP is essential for accurate forensic analysis across diverse populations.
• Mitochondrial DNA (mtDNA) analysis is widely used in forensics due to its high copy number and maternal inheritance.

Purpose of the Study:

• To characterize the mitochondrial DNA (mtDNA) haplogroup distribution in a Swedish population sample.
• To contribute novel genetic data from Sweden to the EMPOP database.
• To assess the genetic diversity and random match probability within the Swedish population for forensic applications.

Main Methods:

• Sequencing of the first and second hypervariable regions of the mitochondrial DNA (mtDNA) genome.
• Analysis of 299 individuals from Sweden.
• Haplotype and haplogroup frequency calculations.

Main Results:

• A total of 179 distinct mitochondrial DNA (mtDNA) haplotypes were identified in the 299 individuals.
• High genetic diversity was observed, with an estimated value of 0.9895 (±0.0023).
• The most prevalent haplogroups were HV (46.5%), U (27.8%), T (10.0%), and J (7.0%), consistent with other European populations.

Conclusions:

• The genetic profile of the Swedish population, based on mtDNA, aligns with broader European patterns.
• The data provides valuable forensic information, enhancing the geographic representation of the EMPOP database.
• This study supports the utility of mtDNA analysis for individual identification and population studies in forensic contexts.