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DNA analysis. DNA typing (genotyping) – History A marker is any polymorphic Mendelian character that can be used to follow a chromosomal segment through a pedigree. Phenotypical markers: E.g. blood groups Restriction Fragment Length Polymorphism
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DNA analysis • DNA typing (genotyping) – History • A marker is any polymorphic Mendelian character that can be used to follow a chromosomal segment through a pedigree. • Phenotypical markers: E.g. blood groups • Restriction Fragment Length Polymorphism (RFLP) markers – The discovery of restriction enzymes not only provided a way to engineer the DNA, but for the first time, provided a marker that encompassed entire chromosome.
Forensics – DNA analysis • RFLP • History • Southern analysis • Fragment length analysis • Frequency • Pattern used to identify individuals
Minisatellite Variable Repeat Polymorphism (Analysis) First locus identified: D1S8 1990, Alec Jeffrey 19 bp for each repeat containing highly variable 1 bp in the HaeIII site Hundreds markers give sifficient polymorphism
Forensics – DNA analysis • Polymerase Chain Reaction (PCR) • Discovery • Principles • Application examples • The case of the Russian Czar • The case of English Royals • Crime scene identification
Short Tandem Repeats
Forensics – DNA analysis Forensics – DNA analysis • Single Nucleotide Polymorphism - SNP • Sequence Polymorphism – DQa1
RFLP DQa1 STR (VNTR) SNP Restriction enzymes Blot PCR DNA micro array Consideration of Markers • Length • Hybridization • Length • Hybridization Better Polymorphism Increased Density Less Sample Amounts Easier Test More Expensive
Finding Common Characteristics of elements---Can you find common characters in the following figures? 1. These are “jollos”. 2. These are “plotz”. 3. Which are jollos and which are plotz? D E C A B
“The bungled burglary” or “The burglar that couldn’t”
The “missing person” case: Using PCR based polymarker loci GYPA, HBGG, D7S8, GC DQA1, STR TRIPLET. Gender identification locus: amelogenin Suspect & roommate excluded from blood on carpet and shoes. Roommate excluded. Suspect pled to first degree murder.
The gender ID marker
The case of disappearing sperm: DQa was the only locus validated for PCR testing in forensics at the time. No conclusion can be drawn from the test results
This was a few years ago. Now SNP typing marker concentration = one million / genome
RFLP results 5 and 6; 7 and 9 are indistinguishable
3 5 13 Lane 3: Victim control Lane 5: Vaginal swab Lane 13: Andrew The first RFLP case (State v. Tommy Lee Andrews)