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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. Human Mitochondrial Genome.
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Chapter 21: Mitochondrial DNA Profiling Forensic Biologyby 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: • HV1 • HV2 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
