DNA Analysis of Hair. Hannah Kennedy. April 18, 2014
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1 DNA Analysis of Hair Hannah Kennedy April 18, 2014
2 Overview Anatomy of hair Hair as evidence Microscopic evaluation of hair Telogen vs. anagen hair Nuclear vs. mitochondrial DNA analysis Lack of nuclear DNA from hair cells Discussion of study regarding nuclear DNA in hair
3 Anatomy of Hair
4 Locard s Principle Every contact leaves a trace
5 Hair as evidence Common form of evidence Can link an individual to a crime or crime scene The amount of hair submitted can vary greatly
6 Microscopic Evaluation of Hair Screening method Determine hair donor Include/exclude for DNA analysis
7 Microscopic Evaluation of Hair Probative evidence aside from DNA Ethnic characteristics Origin of hair Hair color Artificial treatment Damage
8 Microscopic Root Evaluation Root tissue? Yes. Analysis of nuclear DNA Root tissue? No. Analysis of mitochondrial DNA
9 Root Tissue Vs. No Root Tissue
10 Phases of Hair Growth
11 Anagen Phase Hair Anagen phase= active growth phase Involves living cells Plucked/shed during traumatic events Likely contains root tissue Nuclear DNA analysis
12 Nuclear DNA Analysis Unique to each individual (excluding identical twins) Highly discriminating Compatible with national databases
13 Telogen Phase Hair Telogen phase= resting phase Lacks living cells Naturally shed Likely does not contain root tissue Nuclear DNA analysis is inconsistent Mitochondrial DNA analysis
14 Mitochondrial DNA Analysis Does not require root tissue- hair shaft only Present in many copies within a cell Maternally inherited Can exclude individuals Combination of mitochondrial DNA with microscopic comparison is probative
15 Maternal Inheritance
16 Nuclear VS. Mitochondrial DNA Analysis Mitochondrial DNA profiles Are not compatible with databases Do not distinguish between maternal relatives Require the hair shaft only Nuclear DNA profiles Are compatible with databases Specific to an individual Require root tissue for a full profile
17 Why Isn t There Nuclear DNA in Hair? Cornification process in hair Activity of keratinocyte specific enzyme, DNase 1 Like 2 (DNase1L2), that degrades nuclear DNA
18 Cornification of Hair Cells move out of the zone of the hair follicle where cells are multiplying Cornification begins Accumulation of keratin in cytoplasm Leads to the stability of hair Breakdown of organelles and nucleus These cells die and become the dead building blocks of hair
19 DNase1L2 Activity DNase1L2 enzyme has been found to degrade nuclear DNA during cornification of hair Mice studies
20 Study of Nuclear DNA in Hair- Overview Hair cells contain nuclear remnants that contain degraded nuclear DNA Degraded DNA was labeled with fluorescence and viewed under a fluorescent microscope Nuclear DNA analysis was performed
21 Experiment Setup Root tissue not included Hair washed so no tissue remained Labeled with DNA specific fluorescent dye Viewed under a fluorescent microscope
22 Results Nuclear remnants containing DNA varies between individuals: low, high, or none Nuclear remnants varied even between hair cells within the same individual s hair
23 Variation of Labeled Nuclear DNA Remnants
24 Variations in the Number of Nuclear Remnants Observed DNA positive nuclear remnants had no correlation with: Hair color Age of hair donor Distance from the site of proliferation
25 Why Does the Amount of Nuclear DNA in Hair Vary? Attributed to degree of completion of DNA degradation by DNase1L2 Only small portion of total hair cells contained remnants, indicating nuclear DNA is typically degraded to completion
26 Correlation Between Nuclear Remnants and Nuclear DNA Profile High correlation, whether individual hairs or pooled hair from an individual were analyzed All hair that lacked remnants also lacked a nuclear DNA profile No correlation between remnants and mitochondrial DNA analyzed- different mechanism of degradation
27 So, can we get nuclear DNA profiles from hair? Approximately 75% of hairs that contained stainable DNA had at least one locus successfully typed The amount of labeled nuclear DNA varies greatly from individual to individual
28 Conclusions Mitochondrial and microscopic analysis remain primary analysis types for hair Nuclear DNA analysis of hair would change forensic science More studies needed
29 Acknowledgements Dr. Pamela Staton Season Seferyn Darcie Winkler AJ Montanez Corinne Byrdsong
30 References Fischer H, Szabo S, Scherz J, Jaeger K, Rossiter H, Buchberger M, Ghannadan M, Hermann M, Theussl HC, Tomin DJ, Wagner EF, Tschachler E, and Eckhart L. Essential Role of the Keratinocyte-Specific Endonuclease DNase1L2 in the Removal of Nuclear DNA from Hair and Nails. Journal Of Investigative Dermatology 2011;131(6): Lanning KA, Michaud AL, Bisbing RE, Springer FA, and Tridico SR. Scientific Working Group on Materials Analysis Position on Hair Evidence. Journal of Forensic Sciences 2009;54(5): McNevin D, Wilson-Wilde L, Robertson J, Kyd J, and Lennard C. Short tandem repeat (STR) genotyping of keratinised hair. Forensic Science International 2005;153(2): Szabo S, Jaeger K, Fischer H, Tschachler E, Parson W, and Eckhart L. In situ labeling of DNA reveals interindividual variation in nuclear DNA breakdown in hair and may be useful to predict success of forensic genotyping of hair. International Journal of Legal Medicine 2012;126:
31 Picture References
32 Questions?
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