2. 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.

3. Forensics – DNA analysis RFLP –History –Southern analysis –Fragment length analysis –Frequency –Pattern used to identify individuals

8. 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

11. 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

12. 12 24 38 416 532 664 7128 8256 9512 101024 112048 124096 138192 1416384 1532768 1665536 17131072 18262144 19524288 201048576 212097152 224194304 238388608 2416777216 2533554432 2667108864 271.34E+08 282.68E+08 295.37E+08 301.07E+09

13. Short Tandem Repeats

15. Forensics – DNA analysis Single Nucleotide Polymorphism - SNP Sequence Polymorphism – DQ  1 Forensics – DNA analysis

19. Sequence Polymorphism

24. Consideration of Markers RFLP DQ  1 STR (VNTR) SNP Restriction enzymes Blot PCR DNA micro array Better Polymorphism Increased Density Less Sample Amounts Easier Test More Expensive Length Hybridization Length Hybridization

25. 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? AB C DE

26. “The bungled burglary” or “The burglar that couldn’t”

28. 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.

30. The gender ID marker

31. The case of disappearing sperm: DQ  was the only locus validated for PCR testing in forensics at the time. No conclusion can be drawn from the test results

32. The OJ Simpson case

33. This was a few years ago. Now SNP typing marker concentration = one million / genome

34. RFLP results 5 and 6; 7 and 9 are indistinguishable

35. The first RFLP case (State v. Tommy Lee Andrews) 13 53 Lane 3: Victim control Lane 5: Vaginal swab Lane 13: Andrew