Determining lineages between individuals with high-density mitochondrial and Y-chromosomal single-nucleotide...

Area of Science:

• Forensic Science
• Genetics
• Population Genetics

Background:

• Genetic genealogy is increasingly used in forensic investigations.
• Current methods often overlook Y and mitochondrial DNA (mtDNA) lineage markers.
• Lack of established methods for using lineage markers in genetic genealogy.

Purpose of the Study:

• To develop a method for determining paternal and maternal lineages using genetic markers.
• To assess the accuracy and efficiency of lineage marker analysis in forensic genetic genealogy.
• To provide a framework for applying Y and mtDNA SNPs in investigations.

Main Methods:

• Developed a method analyzing single-nucleotide polymorphism (SNP) mismatch frequencies in Y-DNA and mtDNA.
• Applied kinship coefficient filtering using autosomal SNPs to refine lineage determination.
• Validated the method's accuracy with known lineage profiles.

Main Results:

• High accuracy achieved in distinguishing same/different paternal and maternal lineages using Y-DNA and mtDNA SNPs.
• Error rates were 0.380% for Y-DNA and 0.157% for mtDNA.
• Further accuracy improvements (0.120% for Y-DNA, 0.057% for mtDNA) were observed with kinship coefficient filtering.

Conclusions:

• Lineage markers (Y-DNA and mtDNA) are powerful tools for accurate lineage determination in genetic genealogy.
• The developed method significantly improves accuracy in forensic investigations.
• This approach can aid in solving cases and reducing investigation costs.