Forensic Biology by Richard Li Chapter 21: Mitochondrial DNA Profiling Forensic Biology by Richard Li

Basics mtDNA Useful tool for human identification Maternally inherited Number of copies of MtDNA genome per cell is higher than nuclear Hair shaft, bones, decomposed samples Forensic Biology by Richard Li

Human Mitochondrial Genome Subcellular organelles which are energy-generating Mitotype 10x higher mutation rate Revised Cambridge Reference Sequence (rCRS) 16,569 nucleotides and 37 genes Control region (D-Loop) H-Strand and L-Strand Forensic Biology by Richard Li

mtDNA Polymorphic Regions Located in D-Loop Hypervariable regions: HV1 HV2 HV3 Most commonly region in forensics: Forensic Biology by Richard Li

mtDNA Polymorphic Regions Heteroplasmy Sequence Heteroplasmy Length Heteroplasmy Forensic Biology by Richard Li

Forensic mtDNA Testing Decomposed or skeletal remains MtDNA screen assay Allele-specific oligonucleotide (ASO) assay LINEAR ARRAY kit mtDNA Sequencing PCR amplification DNA sequencing reactions Separation using electrophoresis Data collection and sequence analysis Forensic Biology by Richard Li

Interpretation of MtDNA Results SWGDAN & ISFG Inclusion (match) Exclusion Inconclusive Forensic Biology by Richard Li