Molecular Autopsies Flashcards

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1
Q

Where do we get reference DNA?

A
  • Get DNA from person of interest (hair, toothbrush, razors)
  • DNA from blood relatives
  • Combined DNA Index System (CODIS)
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2
Q

Historical method: Restriction Fragment Length Polymorphism analysis (RFLP)

A
  1. Cut DNA in a sample using a restriction enzyme
  2. RUn resulting DNA fragments on a DNA gel
  3. Southern blot-look for specific DNA segments using a complementary probe
  4. Usually probed for regions known to have variable repeat lengths.
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3
Q

Modern method

A

Polymerase chain reaction (PCR) to amplify regions with known short tandem repeats

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4
Q

What are the two components of genetics-based forensic medicine

A
  1. Molecular autopsies

2. Post-mortem pharmacogenetics

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5
Q

What are molecular autopsies used for?

A
  • investigate sudden, unexplained deaths (SIDS, SCD)

- complement traditional autopsies

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6
Q

Ethics of molecular autopsies

A
  • can investigate without family consent and may be subject to public disclosure
  • Should tissue from autopsies be held onto to test when we know more?
  • Should medical examiner share information with family?
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7
Q

What is post-mortem pharmacogenetics?

A
  • Why did someone die? Given this medicine/drug?

- certain cytochrome P450 alleles increase risk of oxymoron toxicity

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8
Q

Case study: infanticide?

A
  • neonate died at 13 days of age of morphine toxicity
  • mom prescribed codeine for pain post-episiotomy
  • mom had duplication of CYP2D6 gene, making her a fast codeine to morhpine metabolizer
  • passed through breast milk, lethal to baby
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9
Q

Case study: suicide

A
  • individuals with two or more copies of CYP2D6 more common in individuals who committed suicide than in those who died natural deaths
  • unresponsiveness to antidepressants?
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10
Q

Case study: another infanticide?

A
  • mother unex[ectedly lost 4 infants
  • 1st 2 deaths SIDS
  • 3rd pneumonia due to aspiration of amniotic fluid
  • 4th revealed plastic bad with baby DNA in kitchen waste
  • mother admitted to placing bag over baby face
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