BIOLOGICAL PROFILING

• Human identification of the living

• Human identification of the dead

• DNA fingerprinting/ Profiling

 BIOLOGICAL PROFILING
• Biological profiling/ DNA profiling (also called DNA
testing, DNA typing, or genetic fingerprinting etc) is a
technique employed by forensic scientists to assist in
the identification of individuals by their respective
DNA profiles.
• DNA profiles are encrypted sets of numbers that
reflect a person's DNA makeup, which can also be
used as the person's identifier.
• Although 99.9% of human DNA sequences are the
same in every person, enough of the DNA is different
to distinguish one individual from another, unless
they are monozygotic twins.
 BIOLOGICAL PROFILING
• A forensic DNA profile is constructed by measuring
highly polymorphic sequences of DNA in order to
compare biological samples (especially blood,
semen, skin cells, saliva, vaginal and nasal
secretions, sweat and other human tissue) found at
a crime scene with samples taken from known
individuals and those found at other crime scenes.
 BIOLOGICAL PROFILING
• DNA profiling uses repetitive ("repeat") sequences
that are highly variable, called variable number
tandem repeats (VNTR).
• VNTRs loci are very similar between closely related
humans, but so variable that unrelated individuals are
extremely unlikely to have the same VNTRs.
• DNA profiling technique was first reported in 1984 by
Sir Alec Jeffreys at the University of Leicester in
England, and is now the basis of several national
DNA databases.
 Objectives of Forensic DNA Testing

• To link an individual to a crime scene/criminal act

• To exonerate suspects

• To identify victims of mass disasters

• Paternity disputes

• Others
 Law Judicial
Enforcement

Laboratory
 Examples of DNA in the News

• Saddam Hussein Identification

• Source of Cow with “Mad cow” Disease
• Scott Lee Peterson Murder Trial
• Identification of WTC Victims
• “Thomas Jefferson fathered slave’s children”
 “A Forensic Paternity Test”
Captured December 13, 2003

Y-chromosome tests were also

used to verify male lineage…

Portion of DNA Profile

Suspected
Saddam

From Son #1
Killed
July 22, 2003 From Son #2

DNA Used as the Ultimate Biometric

for Confirming Saddam’s Identity
Source: www.cnn.com Uday and Qusay Hussein
 Historical Investigation DNA Study
(Matching Relatives to Remains or Relatives to Relatives)
Thomas Jefferson II Failure
Failure to
to Exclude
Exclude
Jefferson
Jefferson as
as Eston
Eston
Hemings’
Hemings’ Father
Father
Field Jefferson Peter Jefferson

President Thomas Woodson

Thomas Jefferson
?
Eston Hemings

Genetic Genealogy Companies

Different Y
Haplotype
Same Y
Jefferson Haplotype
Y Haplotype
Jefferson Nature article (Nov 1998)
Y Haplotype

Butler, J.M. (2001) Forensic DNA Typing, Figure 17.4, ©Academic Press
 Other Applications
• Forensic cases -- matching suspect with evidence
• Exonerate persons wrongly accused of crimes--freeing the
innocent
• Establish paternity/ other family relationships—Paternity testing
• Historical investigations–DNA testing of human remains
• Missing persons investigations
• Mass disasters -- putting pieces back together
• Military DNA “dog tag”– Missing soldier ID
• Identify endangered and protected species as an aid to wildlife
officials - Wildlife forensics
• Authenticating consumables- e.g. caviar or wine
• Detect bacteria and other organisms that may pollute air, water,
soil, and food or that may be used in bioterrorism- Homeland
security
• Convicted felon DNA databases
Roles of Biological Evidence in Criminal
Investigation

• Identify a person
• Exclude a suspect
• Link suspect, victim and crime scene
• Link weapon to victim
• Link witness to scene
• Prove or disprove an alibi Post-conviction DNA testing is
used to exonerate falsely
• Reconstruct the scene incarcerated individuals
(143 so far)
• Provide investigative leads
 Hierarchies of propositions
• Any statement on the strength of the DNA evidence must be
considered in the context of the case.
• DNA evidence should not be considered in isolation as it is
affected by many factors like the type of biological material,
method and time of deposition and the substrate on
which it was deposited.
• There are three hierarchies of propositions in relation to
biological material that can be considered in a criminal trial:
(1) Source level: from which individual did the biological
material originate?
(2) Activity level: what activity led to the deposition of the
biological material?
(3) Offence level: did the suspect commit the offence?
 Sources of Biological Evidence

• Blood
• Semen
• Saliva
• Buccal swab
• Urine
• Hair
• Teeth
• Bone Blood stain
• Tissues
• Others Only a very small
amount of blood is
needed to obtain a
DNA profile
 DNA profiling
• DNA is unique between individuals and can be used as a
means of identification.
• Repetitive sections of DNA, called short tandem repeats
(STRs), vary between individuals.
• A DNA profile is created by analysing the number of STRs that
occur at specific points in an individual’s DNA.
• DNA profiling uses ‘non-coding’ regions of the human genome
that do not provide any information about the individual beyond
identification.
• DNA profiles are a series of numbers that can be used for
identification.
• DNA profiling uses non-coding regions of DNA rather than
coding regions that directly influence human traits
 DNA profiling
• Aside from gender, these profiles provide no
biological information about the individual, such as
their physical appearance.
• A complete match between a DNA profile from a crime
scene sample and a DNA profile from a suspect
sample provides probabilistic support for inferring that
the samples are from the same person. This process
is known as direct matching.
• A non-match provides evidence that the samples are
not from the same person
 DNA in the Cell
chromosome 22 pairs + XX or XY

cell nucleus

Double stranded
DNA molecule Target Region for PCR

~3 billion total base pairs

Individual
nucleotides
 Short Tandem Repeats (STRs)
Fluorescent
Fluorescentdye
dyecreates
creates
Fluorescent
aalabeled
labeledPCR
PCRproduct
product
dye label AATG AATG
primer1

primer2
primer1 7 repeats

primer2
8 repeats
the repeat region is variable between samples while the
flanking regions where PCR primers bind are constant
Homozygote = both alleles are the same length
Heterozygote = alleles differ and can be resolved from one another

Primer positions define PCR product size

 DNA profiling
• There are alternative hypotheses that could account for a
match, such as sample contamination in the laboratory or at
the crime scene
• DNA evidence must always be considered in the context of the
other available evidence in a case.
• The consequences of laboratory error are illustrated by the
2009 Australian case R v Jama, in which the contamination of
DNA evidence resulted in an individual being wrongly convicted
and imprisoned
• DNA profiling is now routinely used in criminal investigations for
example, in sexual assault cases where the offender deposits
DNA on the victim’s clothing, a burglary where the offender
leaves DNA at the scene or a homicide where the victim’s hair
is found on the clothing of a suspect
 Familial searching
• A DNA profile can demonstrate genetic relationships
when the profiles are matched on the basis of the
number of STR markers that are shared.
• For example, a parent would be expected to share half
of their STR markers with their child, because half of a
child’s genetic code is received from each parent.
• This is the basis of familial searching—a new
application of DNA profiling that is increasingly being
used in criminal investigations around the world
 Familial searching
• Is used in criminal investigations where DNA evidence is found
at a crime scene and a match cannot be established with any
of the DNA profiles held on the databases available to police
• While complete DNA profile matches may not be found on the
database, these searches may identify partial matches.
• Partial matches may indicate the DNA profiles of genetic
relatives in the database.
• Where a partial match is identified, this can provide new
investigative leads and a greater chance of identifying
suspects
• The English case R v Harman provides an example of how
familial searching is able to provide police with additional
options where they are not otherwise able to progress with an
investigation
 Kinship matching
• Kinship matching is based on the same principles as familial
matching.
• It commonly refers to the use of this technique in civil
investigations, such as an airline crash involving multiple
fatalities where unidentified bodies are found, or in isolated
cases of unidentified bodies.
• In kinship matching, family members voluntarily submit samples
of their DNA to investigators.
• Where a partial match is found, this can reduce the time
required to identify bodies in natural disaster and missing
person cases.
• Used in the forensic identification process associated with the
2014 Malaysia Airlines Flight 17 disaster in the Ukraine to
identify victims from all over the world
 “Specialized” PCR-based systems
• mtDNA
• Y-STRs
• Low copy number analysis
• DNA phenotyping
• SNPs
 mtDNA profiling

• Mitochondrial DNA (mtDNA) is maternally inherited,

and is identical between siblings and maternal
relatives.
• Mitochondrial DNA profiling can be used to provide
greater specificity in familial searches where a number
of partial matches are obtained.
• As there are multiple copies of mtDNA per cell, it can
be used in the identification of degraded samples such
as skeletal remains, where there may be insufficient
nuclear DNA to create a profile
 mtDNA profiling
• mtDNA profile can be traced back maternally for
generations, and can also be used to trace an
individual’s geographic ancestry back to specific
continents or countries
• Their likely ethnic background can be used to obtain a
likely physical description of a suspect.
• It has been used on a number of occasions —most
notably, in the case Aytugrul v The Queen in Australia
 Y-STR DNA profiling
• The Y chromosome is a paternally inherited sex-determining
chromosome.
• Y-STR profiling can also be used to narrow familial searches
where a number of partial matches are obtained.
• It has forensic application in distinguishing male and female
DNA (or distinguishing multiple male offenders) in sexual
assault cases where samples taken from the victim are mixed
and it is difficult to obtain an accurate profile of the suspect
• Y-STR profiling was used in the Australian case R v Priestley
to separate male and female DNA and identify the DNA profile
of the offender
 Low copy number analysis
• The amount of DNA left on an object after contact is
influenced by a range of factors, such as the duration
or type of contact.
• Low copy number (LCN) analysis involves the use of
techniques to multiply small amounts of DNA,
obtained from only a few cells.
• This technique was applied in the high-profile
Murdoch v The Queen case in the NT Supreme
Court.
• However, it has the potential to create erroneous
results due to a high potential for contamination
 DNA phenotyping
• DNA phenotyping uses coding regions of the genome.
• It has been less widely used than other techniques
and has been more controversial.
• This is because DNA phenotyping can determine
whether an individual has specific genes that are
relevant to physical features such as hair and eye
colour, height, ethnic background, facial features, or
predisposition to specific psychological conditions
 DNA phenotyping
• Could be used in cases where a DNA match cannot be found
on a database, and provides the option of obtaining
information about a suspect where there is little evidence.
• This technique is legal and regulated in parts of the United
States and Germany, as well as the Netherlands, where it is
limited to external visible traits.
• However, in most jurisdictions around the world it is not
regulated.
• While there do not appear to be privacy concerns about
externally visible traits such as eye and hair colour, there could
be with respect to the analysis of coding that would reveal
medical conditions
• The English case R v Delroy Grant provides an example of
how DNA phenotyping was used to establish the racial
background and likely physical appearance of a suspect
 Our DNA Comes from our Parents

Father’s Mother’s
Sperm Egg

Child’s Cell
Genetic Inheritance Pattern of DNA
Profiles

DAD

CHILD

MOM
 Paternity Testing
Family Inheritance of STR Alleles (D13S317)
PCR product size (bp)

11 14
Results Father
Me
Resultsof
ofDNA
DNATests
Tests
Impact
ImpactFamilies
Families
12 14
Child #1

8 14
Child #2

11 12
Child #3

8 12
Mother
 Paternity Testing
Family Inheritance of STR Alleles (D13S317)
PCR product size (bp)

11 14
Father
Father

12 14
Amanda
Child #1

8 14
Child
Marshall
#2

11 12
Child
Katy#3

8 12
Mother
Mother
 Steps in DNA Analysis
Slot Blot
1 ng
0.3 ng
Collection No DNA
0.5 ng
0.5 ng

Specimen Storage 0.7 ng

1 ng
Blood Stain Buccal swab 1 ng

Extraction Sample Collection DNA DNA

& Storage Extraction Quantitation
Quantitation

Genotyping Multiplex PCR Amplification

Interpretation
of Results
STR Typing
Database Male: 13,14-15,16-12,13-10,13-15,16
Storage & Searching
Interpretation of Results DNA Database
 International DNA Database’s
• The UK National DNA database (NDNAD) The UK
NDNAD was established in 1995, shortly after STR
profiling using six STR loci (the SGM) was introduced
into criminal casework
• The Australian National Criminal Investigation DNA
Database (NCIDD), managed by CrimTrac, has been
in operation since 2001.
• The NCIDD continues to expand and holds more
than 830,000 DNA profiles and conducts 68,000
matches from crime scenes to individuals, and more
than 72,000 matches from crime scene to crime
scene each year
 The Combined DNA Index System
(CoDIS)
• A database of DNA profiles from violent felons and
crime scene samples in the USA
• Laws concerning who is eligible for the database vary
from state to state
• Database currently contains about 2,038,470 felons
and 93,956 crime scene profiles (19,00 hits so far)
 CODIS DNA Database

Combined DNA Index System

• A database of DNA profiles from violent felons and crime scene
samples in the USA
• Used for linking serial crimes and unsolved cases with repeat
offenders
• Convicted offender and forensic case samples
• Launched October 1998 and links all 50 states
• Requires 13 core STR markers
• Current backlog of >750,000 samples (millions of dollars are
spent each year to reduce backlog)