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

2. 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

3. 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

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

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

6. 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

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