Human Identity Testing Purpose Match a person to

Human Identity Testing Purpose: Match a person to a DNA sample. Examples: • Paternity Test • Genetic History • Historical (Thomas Jefferson, Sally Hemings) • Genealogical • Forensic • Missing Persons • Identifying body parts

Forensic DNA Source: Any biological material containing cells Examples: • Blood • Hair (must have root) • Bone / teeth • Saliva • Urine • Semen • Vaginal secretions • Futuristic: discarded epidermal cells

CODIS (Combined DNA Index System) Purpose: Allow participating laboratories to exchange and compare profiles at a national level in electronic form. Factoids: • 1990: pilot launched by FBI • 1994: DNA Identification Act passed (authorized FBI to implement a national forensic data base) • 1998: became operational • 2000: added missing persons

CODIS: 13 STR Loci and AMEL TPOX D 3 S 1358 D 8 S 1179 D 5 S 818 FGA CSF 1 PO TH 01 VWA D 7 S 820 AMEL D 13 S 317 D 16 S 539 D 18 S 51 D 21 S 11 AMEL

STR (Short Tandem Repeat) TH 01: TCAT repeat in the first intron of the tyrosine hydroxylase gene TCATTCATTCAT 1 2 3 4 5 6 TCATTCATTCATTCAT 1 2 3 4 5 6 7 8

STR Allele Frequencies 45 40 TH 01 Marker Frequency 35 30 Caucasians (N=427) Blacks (N=414) Hispanics (N=414) 25 20 15 10 5 *Proc. Int. Sym. Hum. ID 0 (Promega) 1997, p. 34 6 7 8 9 9. 3 Number of repeats 10

Genotyping at the TH 01 Locus: Moe: 7/9 Larry: 9. 3/9. 3 Curly: 6/9 Reference 10 6 7 8 9 9. 3

Moe: 7/9 Larry: 9. 3/9. 3 Curly: 6/9 Crime Scene DNA

AMEL (amelogenin locus) • quick, inexpensive sex determination • AMEL gene on X chromosome has 6 fewer base pairs than the gene on the Y chromosome • XX give one “short” peak • XY give two peaks, one “short” and one “long”

Human Identity Testing with Multiplex STRs Amp. Fl. STR® SGM Plus™ kit amelogenin D 19 D 3 D 8 TH 01 VWA D 21 D 16 D 18 D 2 FGA first person amelogenin D 3 D 19 second person D 8 VWA TH 01 D 16 D 21 FGA D 18 Simultaneous Analysis of 10 STRs and Gender ID D 2