Forensic DNA Phenotyping for Investigative Leads Hwan Young Lee, - - PDF document

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Forensic DNA Phenotyping for Investigative Leads Hwan Young Lee, - - PDF document

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Forensic DNA Phenotyping for Investigative Leads Hwan Young Lee, Ph.D. Yonsei University College of Medicine This picture is the property of the Genetic Science Learning Center at the University of Utah Conventional Forensic DNA Typing o

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Forensic DNA Phenotyping for Investigative Leads

This picture is the property of the Genetic Science Learning Center at the University of Utah

Hwan Young Lee, Ph.D. Yonsei University College of Medicine

Involves generation of DNA profiles usually with the same genetic markers and then MATCHING TO REFERENCE SAMPLE

  • Forensic cases -- matching suspect with evidence
  • Paternity testing -- identifying father

Conventional Forensic DNA Typing

Picture from www.cstl.nist.gov/strbase/NISTpub.htm

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Advanced Forensic DNA analysis

  • Human identification

testing

  • DNA database search
  • DNA mass screening

Forensic DNA phenotyping (FDP)

  • Ancestry inference
  • Externally visible characteristics
  • Forensic age estimation

Identification markers Intelligence markers

Slide from the ISFG 2015 workshop presentation by W. Branicki

  • Autosomal STRs: multiplex HID kits available
  • Y-STRs: HID kits available
  • X-STR: HID kits available
  • mtDNA: published protocols for CR and complete genomes
  • SNPs, INDELs: published protocols

Forensic Human Identification

Slide from the ISFG 2015 workshop presentation by W. Branicki

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  • Matching DNA profiles – evidence in favor of hypothesis that two

samples come from the same individual

  • Reference DNA samples needed to perform human ID testing
  • In many cases suspect is unknown to the investigation

Human Identification Testing

Slide from the ISFG 2015 workshop presentation by W. Branicki

DNA Database Search

Slide from the ISFG 2015 workshop presentation by W. Branicki

12,14 28, 30 9 10 16, 17 6 11, 14 11, 13 22, 23 X, Y 12,14 28, 30 9 10 16, 17 6 11, 14 11, 13 22, 23 X, Y

DNA profiling Matching DNA profiles Evidence DNA profiles Reference DNA profiles

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DNA Mass Screening

Slide from the ISFG 2015 workshop presentation by W. Branicki

  • ENFSI report: 439 finished mass screens – 315 successful
  • 1998 Germany: rape and murder – 11200 males investigated
  • 2001 Poland: 14 rapes and murder – 421 males investigated

Source: Internet

Intelligence Markers

Picture from snapshot.parabon-nanolabs.com

DNA test

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Ancestry Inference

  • Lineage markers (mtDNA andY-STR)
  • Ancestry Informative Markers (AIMs)
  • Single Nucleotide Polymorphisms, INDELs
  • Several to several hundreds markers analyzed
  • Usually “continental” resolution (EastAsia – Europe – Africa)

https://www.sott.net/

Bomber from Morocco (2004)

Madrid Bomber: 34Plex AIM-SNP Assay

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Global AIMs panel v2

Slide from the ISFG 2017 presentation by D. Runa

Pigmentation Stature Facial morphology Hair shape Myopia Hair greying Hair distribution

Source: National Portrait Gallery in Canberra

Externally Visible Characteristics

Slide from the ICGSK2016 presentation by W. Branicki

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Eye Color DNA Phenotyping

http://www.erasmusmc.nl/47743/3604975/HIris?lang=en

TT TC CC

Single Nucleotide Polymorphism (SNP) Ind1: CATTTCGCGAT Ind2: CATTTTGCGAT

Eye and Hair Color DNA Phenotyping

http://www.erasmusmc.nl/47743/3604975/HIris?lang=en

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Forensic Age Estimation

Slide from the ISFG 2015 workshop presentation by W. Branicki

  • Information about chronological age of an offender
  • Predicted age can be used to narrow down the search range
  • Information about biological age of an offender
  • Predicted age can improve forensic DNA phenotyping

https://internetmedicine.com/aging-and-nanomedicine/

Age Prediction with DNA Methylation

Hannum et al. Mol Cell (2013)

71 CpGs GGACAGGGGCGTGGCGCCTGCT

Met Met

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Age Prediction in Blood

MAD (Mean Absolute Deviation) from chronological age = 3.9 years

Zbieć-Piekarska et al. Forensic Sci Int Genet (2015)

  • 5 CpGs in the genes ELOVL2, C1orf132, TRIM59, KLF14 and FHL2

Regression function: Age = a + b×CpG1 + c×CpG2 + d×CpG3 + …

Age Prediction in Saliva

Hong et al. Forensic Sci Int Genet (2017) cg18384097 cg00481951 cg19671120 cg14361627 cg08928145cg12757011 cg07547549

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Age Prediction in Semen

  • Age correlation of the 3 CpGs and predicted versus chronological

ages of 125 semen samples

Rho = 0.882 MAD = 5.2 years Lee et al. Forensic Sci Int Genet (2015) cg06304190 (TTC7B) cg06979108(NOX4) cg12837463 cg06304190 cg06979108 cg12837463

Analysis of a Casework Example

  • A stain preliminary positive for semen and saliva
  • Two men’s mixed STR profile
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Semen age prediction (ppt) Saliva age prediction (supernatant)

cg06304190 cg06979108 cg12837463 cg18384097 cg00481951 cg19671120 cg14361627 cg08928145 cg12757011 cg07547549

Male 1 Male 2

60s 30s

Analysis of a Casework Example

Ethical and Legal Issues in FDP

  • FDP is prediction of appearance from forensic samples
  • FDP is developed to guide police investigations in cases

without known suspects

  • FDP includes forensic use of DNA for investigation, not

in the courtroom

  • Benefit and risk analysis will be needed
  • Law: Netherlands, Texas..
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Thank you for your attention!

hylee192@yuhs.ac http://forensic.yonsei.ac.kr

Picture from internet