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What is Mitochondrial DNA (mtDNA)? Maternally inherited Every individual in the same maternal lineage should have the same mtDNA sequence More sensitive than nuclear DNA Each cell contains 1000’s of copies of mtDNA vs. 1 copy of nuclear DNA mtDNA is analyzed by sequencing Hypervariable I (HV1) and Hypervariable II (HV2) regions - look for actual A,G,T,C sequence

What is Mitochondrial DNA (mtDNA)?

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What is Mitochondrial DNA (mtDNA)?. Maternally inherited Every individual in the same maternal lineage should have the same mtDNA sequence More sensitive than nuclear DNA Each cell contains 1000’s of copies of mtDNA vs. 1 copy of nuclear DNA mtDNA is analyzed by sequencing - PowerPoint PPT Presentation

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Page 1: What is Mitochondrial DNA (mtDNA)?

What is Mitochondrial DNA (mtDNA)?

• Maternally inherited– Every individual in the same maternal lineage should have

the same mtDNA sequence• More sensitive than nuclear DNA– Each cell contains 1000’s of copies of mtDNA vs. 1 copy

of nuclear DNA• mtDNA is analyzed by sequencing– Hypervariable I (HV1) and Hypervariable II (HV2) regions

- look for actual A,G,T,C sequence

Page 2: What is Mitochondrial DNA (mtDNA)?

When to use mtDNA testing

Hair samples with no or insufficient roots Cases where nuclear DNA analysis does not

result in sufficient information for a conclusion

Identity situations where there the only reference available is a maternal relative

**mtDNA is not good in cases of mixtures

Page 3: What is Mitochondrial DNA (mtDNA)?

mtDNA Report

Page 4: What is Mitochondrial DNA (mtDNA)?

Why would a Public Defender pursue DNA testing?

• Results don’t have to be incriminating They can also corroborate a story

• Questions about “no results” from evidence that you think should yield a result

• Questions about mixtures

Page 5: What is Mitochondrial DNA (mtDNA)?

When to seek a DNA test vs. DNA review

• Re-test– Results of first test

inconsistent with what is expected• No results were obtained

– Mixture• Lab can’t include or

exclude your client

• Review– No results (no chart) listed

in report-only conclusions–Mixture- Is your client

really included?– If you are confused by the

results

Listen to your client

Page 6: What is Mitochondrial DNA (mtDNA)?

What to ask for Re: Discovery

• Copy of complete case file (Including all raw data)– Serology– DNA

• Copy of Protocols– Standard Operating Procedures (SOP)– Quality Assurance/Quality Control (QA/QC)

• Database information (Frequency tables)

At a Minimum

Page 7: What is Mitochondrial DNA (mtDNA)?

Additional Items

What to ask for Re: Discovery

• Quality control records– Kits used– Critical Reagents

• Records of Proficiency Tests (each analyst)• Copies of Audit documents• Validation Information • Accreditation Information

Page 8: What is Mitochondrial DNA (mtDNA)?

What to look for in an expert

• Aspects to consider when picking an expert and/or laboratory

– Price– Turn-around time– Accredited laboratory– Experts who provide service both Defense

and those other guys (more credibility)

Page 9: What is Mitochondrial DNA (mtDNA)?

Thank You

Meghan E. Clement

LabCorp Forensic Identity Department

[email protected]