module 16 session 2 - university of washington...module 16 –session 2 •mutations o slipped...
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Module 16 – Session 2
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• Mutationso Slipped Strand Mispairing
• PCR-CE Analysis and Anomalies
• Peak Height Variabilityo Template
o Degradation
o Locus Specific Amplification Efficiency
o Stutter
• Mixtureso Heterozygous Balance
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Considering the SSM mechanism, which one is most likely to occur?
• Increase in repeat length
• Decrease in repeat length
• Both equally likely
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What is the third step of the PCR process?
• Annealing
• Elongation
• Denaturation
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High molecular weight alleles are ……. to drop out than low molecular weight alleles?
• More likely
• Less likely
• Equally likely
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Which allele is expected to stutter most?
• [ATAC]8
• [ATAC]12
• [AT]12
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The characteristics shared by mutations and stutter are considerable:
• Rates increase with number of repeat units
• Rates are inversely correlated with repeat unit length
• Stutter usually involves insertion or deletion of a complete repeat unit
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Most forensic stains contain DNA from different individuals. The number of contributors (NoC) is usually unknown.
Source: The interpretation of low level DNA mixtures (Kelley et al., 2012)
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Mixing proportions can range over contributors.
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The NoC can technically be any number. Some guidelines:
o Use maximum allele counts (MAC) method: NoC ≥ MAC/2
o Use stutter rates
o Use the heterozygote balance
These may need modification when multiple effects play a role.
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Two peaks of heterozygous alleles will show variability resulting from stochastic variations.
Understanding this variability can help the interpretation of mixtures and low template DNA:
o To classify combinations of alleles as possible or impossible for mixtures
o For LTDNA, if imbalanced peaks may have led to alleles not exceeding thresholds
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Suppose there is a crime committed on a remote island with a population of size 101. A suspect Q is found to match the crime scene profile. What is the probability that Q is the source of the profile?
Individuals: 101
Source: Not source:
Matching:
Source: Weight-of-Evidence for Forensic DNA Profiles (Balding & Steele, 2015)
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Suppose there is a crime committed on a remote island with a population of size 101. A suspect Q is found to match the crime scene profile. What is the probability that Q is the source of the profile?
Individuals: 101
Source: 1 Not source: 100
Matching:
Source: Weight-of-Evidence for Forensic DNA Profiles (Balding & Steele, 2015)
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Suppose there is a crime committed on a remote island with a population of size 101. A suspect Q is found to match the crime scene profile. What is the probability that Q is the source of the profile?
Individuals: 101
Source: 1 Not source: 100
100% TP 1% FP
Matching:
Source: Weight-of-Evidence for Forensic DNA Profiles (Balding & Steele, 2015)
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In addition to Q, we expect one other individual on the island to match. So, even though the profile is rare, there is only a 50% chance that Q is the source. So, even though the profile is rare, there is only a 50
Individuals: 101
Source: 1 Not source: 100
100% TP 1% FP
Matching: 2
Source: Weight-of-Evidence for Forensic DNA Profiles (Balding & Steele, 2015)
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How does knowledge about Q being identified through a search affect the probability of being the source?
• It decreases
• It increases
• It stays the same
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