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mtDNA Testing

Mitochondrial DNA Sequencing

  • Utilises Next Generation Sequencing (NGS) for Mitochondrial DNA analysis
  • Options for control region or whole genome sequencing
  • Effective in circumstances where nuclear DNA analysis has failed

Why choose mitochondrial DNA analysis?

Mitochondria contains an independent, circular genome, 16,569 base pairs in length, including a non-coding control region of approximately 1160 base pairs.

Each eukaryotic cell contains 100-10,000 copies of mitochondrial DNA (mtDNA), a much higher copy number in comparison to nuclear DNA; this high copy number means that mtDNA is abundant even in limited or degraded samples meaning mtDNA analysis is often successful in cases where nuclear DNA analysis has failed.

Due to its circular structure mtDNA is less prone to both environmental and enzymatic degradation than nuclear DNA and is therefore more stable over time so can be utilised in ancient samples. Furthermore, mtDNA is maternally inherited so can be used to determine matrilineal ancestry.

All testing performed in an award-winning UK laboratory

mtDNA Research applications

  • Anthropology
  • Phylogenetics
  • Evolutionary Biology
  • Clinical/disease research
  • Forensic Genomics
  • Ancient DNA Studies

Samples

mtDNA is often abundant in challenging samples including, but not limited to:

  • Aged or damaged bones and teeth
  • Chemically damaged or charred remains
  • Low concentration samples
  • Aged body fluid stains
  • Hair shafts

We require 20 µl of sample at a concentration of 8.33 pg/µ. Lower concentrations can be tested but may not produce full DNA profiles.

Control region vs whole genome

Control Region Whole Genome
Size in Base Pairs 1160 16,569
Number of Amplicons 18 245
Average Amplicon Size 118 131
Maximum Amplicon Size 150 209
Advantages Contains mutation hotspots Yields more variation and could be useful for haplotype resolution
Control Region Whole Genome
Size in Base Pairs
1160 16,569
Number of Amplicons
18 245
Average Amplicon Size
118 131
Maximum Amplicon Size
150 209
Advantages
Contains mutation hotspots Yields more variation and could be useful for haplotype resolution

Why choose the ForenSeq mtDNA kits?

  • 3bp minimum primer overall allows high quality results throughout entire amplicon.
  • Small amplicon size has been designed to target degraded samples.
  • Sequence alignment is relative to the revised Cambridge Reference Sequence (rCRS).
  • Reports will be provided to you detailing all variants observed including single nucleotide variants, insertions, and deletions.
  • Data can be provided in the correct format for importing into CODIS or EMPOP, if required.

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