DNA PROFILING (also called
DNA TESTING, or DNA
TYPING) is a forensic technique used to identify individuals by
characteristics of their
DNA . A
DNA PROFILE is a small set of DNA
variations that is very likely to be different in all unrelated
individuals, thereby being as unique to individuals as are
fingerprints (hence the alternative name for the technique). DNA
profiling should not be confused with full genome sequencing . First
developed and used in 1984,
DNA profiling is used in, for example,
parentage testing and criminal investigation , to identify a person or
to place a person at a crime scene, techniques which are now employed
globally in forensic science to facilitate police detective work and
help clarify paternity and immigration disputes.
has also been widely used in the study of animal and floral
populations and has revolutionized the fields of zoology, botany, and
Although 99.9% of human
DNA sequences are the same in every person,
enough of the
DNA is different that it is possible to distinguish one
individual from another, unless they are monozygotic ("identical")
DNA profiling uses repetitive ("repeat") sequences that are
highly variable, called variable number tandem repeats (VNTRs), in
particular short tandem repeats (STRs), also known as microsatellites
, and minisatellites .
VNTR loci are very similar between closely
related individuals, but are so variable that unrelated individuals
are extremely unlikely to have the same VNTRs.
The modern process of
DNA profiling was developed in 1984 by Sir Alec
Jeffreys while working in the Department of Genetics at the
University of Leicester
University of Leicester .
DNA profiling process
* 1.2 Polymerase Chain Reaction(PCR) analysis
* 1.4 AmpFLP
DNA family relationship analysis
* 1.6 Y-chromosome analysis
* 1.7 Mitochondrial analysis
* 3 Considerations when evaluating
* 3.1 Evidence of genetic relationship
* 4 Fake
DNA evidence as evidence in criminal trials
* 5.1 Familial
* 5.2 Partial matches
* 5.3 Surreptitious
* 5.4 England and Wales
* 5.4.1 Presentation and evaluation of evidence of partial or
DNA testing in the
* 5.6 Development of artificial
* 6 Cases
* 7 See also
* 8 References
* 9 Further reading
* 10 External links
DNA PROFILING PROCESS
VNTR allele lengths in 6 individuals. Alec
Jeffreys , the pioneer of
Developed by Professor of Genetics Sir
Alec Jeffreys , the process
begins with a sample of an individual's
DNA (typically called a
"reference sample"). A common method of collecting a reference sample
is the use of a buccal swab , which is easy, non-invasive and cheap.
When this is not available (e.g. because a court order is needed but
not obtainable) other methods may need to be used to collect a sample
of blood , saliva , semen , vaginal lubrication , or other appropriate
fluid or tissue from personal items (e.g. a toothbrush, razor) or from
stored samples (e.g. banked sperm or biopsy tissue). Samples obtained
from blood relatives (related by birth, not marriage) can provide an
indication of an individual's profile, as could human remains that had
been previously profiled.
A reference sample is then analyzed to create the individual's DNA
profile using one of a number of techniques, discussed below. The DNA
profile is then compared against another sample to determine whether
there is a genetic match.
Restriction fragment length polymorphism
Restriction fragment length polymorphism
The first methods for finding out genetics used for
DNA is collected from cells, such as a blood
sample, and cut into small pieces using a restriction enzyme (a
restriction digest). This generates thousands of
DNA fragments of
differing sizes as a consequence of variations between
of different individuals. The fragments are then separated on the
basis of size using gel electrophoresis .
The separated fragments are then transferred to a nitrocellulose or
nylon filter; this procedure is called a
Southern blot . The DNA
fragments within the blot are permanently fixed to the filter, and the
DNA strands are denatured .
Radiolabeled probe molecules are then
added that are complementary to sequences in the genome that contain
repeat sequences. These repeat sequences tend to vary in length among
different individuals and are called variable number tandem repeat
sequences or VNTRs. The probe molecules hybridize to
containing the repeat sequences and excess probe molecules are washed
away. The blot is then exposed to an X-ray film. Fragments of
have bound to the probe molecules appear as dark bands on the film.
Southern blot technique is laborious, and requires large amounts
of undegraded sample DNA. Also, Karl Brown's original technique looked
at many minisatellite loci at the same time, increasing the observed
variability, but making it hard to discern individual alleles (and
thereby precluding paternity testing ). These early techniques have
been supplanted by
PCR -based assays .
POLYMERASE CHAIN REACTION(PCR) ANALYSIS
Polymerase chain reaction
Polymerase chain reaction
Kary Mullis in 1983, a process was reported by which
specific portions of the sample
DNA can be amplified almost
indefinitely (Saiki et al. 1985, 1988). This has revolutionized the
whole field of
DNA study. The process, the polymerase chain reaction
(PCR), mimics the biological process of
DNA replication , but confines
it to specific
DNA sequences of interest. With the invention of the
DNA profiling took huge strides forward in both
discriminating power and the ability to recover information from very
small (or degraded) starting samples.
PCR greatly amplifies the amounts of a specific region of DNA. In the
PCR process, the
DNA sample is denatured into the separate individual
polynucleotide strands through heating. Two oligonucleotide DNA
primers are used to hybridize to two corresponding nearby sites on
DNA strands in such a fashion that the normal enzymatic
extension of the active terminal of each primer (that is, the 3’
end) leads toward the other primer.
PCR uses replication enzymes that
are tolerant of high temperatures, such as the thermostable Taq
polymerase . In this fashion, two new copies of the sequence of
interest are generated. Repeated denaturation, hybridization, and
extension in this fashion produce an exponentially growing number of
copies of the
DNA of interest. Instruments that perform thermal
cycling are readily available from commercial sources. This process
can produce a million-fold or greater amplification of the desired
region in 2 hours or less.
Early assays such as the HLA -DQ alpha reverse dot blot strips grew
to be very popular due to their ease of use, and the speed with which
a result could be obtained. However, they were not as discriminating
RFLP analysis. It was also difficult to determine a
DNA profile for
mixed samples, such as a vaginal swab from a sexual assault victim.
PCR method was readily adaptable for analyzing
VNTR , in
particular STR loci. In recent years, research in human DNA
quantitation has focused on new "real-time" quantitative
PCR methods enable automated, precise, and
high-throughput measurements. Inter-laboratory studies have
demonstrated the importance of human
DNA quantitation on achieving
reliable interpretation of STR typing and obtaining consistent results
Short tandem repeats
The system of
DNA profiling used today is based on
PCR and uses
simple sequences or short tandem repeats (STR). This method uses
highly polymorphic regions that have short repeated sequences of DNA
(the most common is 4 bases repeated, but there are other lengths in
use, including 3 and 5 bases). Because unrelated people almost
certainly have different numbers of repeat units, STRs can be used to
discriminate between unrelated individuals. These STR loci (locations
on a chromosome) are targeted with sequence-specific primers and
PCR . The
DNA fragments that result are then separated
and detected using electrophoresis . There are two common methods of
separation and detection, capillary electrophoresis (CE) and gel
Each STR is polymorphic, but the number of alleles is very small.
Typically each STR allele will be shared by around 5 - 20% of
individuals. The power of
STR analysis comes from looking at multiple
STR loci simultaneously. The pattern of alleles can identify an
individual quite accurately. Thus
STR analysis provides an excellent
identification tool. The more STR regions that are tested in an
individual the more discriminating the test becomes.
From country to country, different STR-based DNA-profiling systems
are in use. In North America, systems that amplify the
CODIS 20 core
loci are almost universal, whereas in the
United Kingdom the DNA-17 17
loci system (which is compatible with The National
DNA Database ) is
in use. Whichever system is used, many of the STR regions used are the
same. These DNA-profiling systems are based on multiplex reactions,
whereby many STR regions will be tested at the same time.
The true power of
STR analysis is in its statistical power of
discrimination. Because the 20 loci that are currently used for
CODIS are independently assorted (having a certain
number of repeats at one locus does not change the likelihood of
having any number of repeats at any other locus), the product rule for
probabilities can be applied. This means that, if someone has the DNA
type of ABC, where the three loci were independent, we can say that
the probability of having that
DNA type is the probability of having
type A times the probability of having type B times the probability of
having type C. This has resulted in the ability to generate match
probabilities of 1 in a quintillion (1x1018) or more. However, DNA
database searches showed much more frequent than expected false DNA
profile matches. Moreover, since there are about 12 million
monozygotic twins on Earth, the theoretical probability is not
In practice, the risk of contaminated-matching is much greater than
matching a distant relative, such as contamination of a sample from
nearby objects, or from left-over cells transferred from a prior test.
The risk is greater for matching the most common person in the
samples: Everything collected from, or in contact with, a victim is a
major source of contamination for any other samples brought into a
lab. For that reason, multiple control-samples are typically tested in
order to ensure that they stayed clean, when prepared during the same
period as the actual test samples. Unexpected matches (or variations)
in several control-samples indicates a high probability of
contamination for the actual test samples. In a relationship test, the
DNA profiles should differ (except for twins), to prove that a
person was not actually matched as being related to their own
Amplified fragment length polymorphism
Another technique, AmpFLP, or amplified fragment length polymorphism
was also put into practice during the early 1990s. This technique was
also faster than
RFLP analysis and used
PCR to amplify
DNA samples. It
relied on variable number tandem repeat (VNTR) polymorphisms to
distinguish various alleles, which were separated on a polyacrylamide
gel using an allelic ladder (as opposed to a molecular weight ladder).
Bands could be visualized by silver staining the gel. One popular
focus for fingerprinting was the D1S80 locus. As with all
methods, highly degraded
DNA or very small amounts of
DNA may cause
allelic dropout (causing a mistake in thinking a heterozygote is a
homozygote) or other stochastic effects. In addition, because the
analysis is done on a gel, very high number repeats may bunch together
at the top of the gel, making it difficult to resolve. AmpFLP analysis
can be highly automated, and allows for easy creation of phylogenetic
trees based on comparing individual samples of DNA. Due to its
relatively low cost and ease of set-up and operation, AmpFLP remains
popular in lower income countries.
DNA FAMILY RELATIONSHIP ANALYSIS
1: A cell sample is taken- usually a cheek swab or blood test
DNA is extracted from sample
3: Cleavage of
DNA by restriction enzyme- the
DNA is broken into
4: Small fragments are amplified by the Polymerase Chain Reaction-
results in many more fragments
DNA fragments are separated by electrophoresis
6: The fragments are transferred to an agar plate
7: On the Agar Plate specific
DNA fragments are bound to a
8: The Agar Plate is washed free of excess probe
9: An x-ray film is used to detect a radioactive pattern
DNA is compared to other
DNA analysis is widely applied to determine
genetic family relationships such as paternity, maternity, siblingship
and other kinships.
During conception, the father’s sperm cell and the mother’s egg
cell, each containing half the amount of
DNA found in other body
cells, meet and fuse to form a fertilized egg, called a zygote . The
zygote contains a complete set of
DNA molecules, a unique combination
DNA from both parents. This zygote divides and multiplies into an
embryo and later, a full human being.
At each stage of development, all the cells forming the body contain
the same DNA—half from the father and half from the mother. This
fact allows the relationship testing to use all types of all samples
including loose cells from the cheeks collected using buccal swabs,
blood or other types of samples.
There are predictable inheritance patterns at certain locations
(called loci) in the human genome, which have been found to be useful
in determining identity and biological relationships. These loci
DNA markers that scientists use to identify
individuals. In a routine
DNA paternity test, the markers used are
Short Tandem Repeats (STRs), short pieces of
DNA that occur in highly
differential repeat patterns among individuals.
DNA contains two copies of these markers—one copy
inherited from the father and one from the mother. Within a
population, the markers at each person’s
DNA location could differ
in length and sometimes sequence, depending on the markers inherited
from the parents.
The combination of marker sizes found in each person makes up his/her
unique genetic profile. When determining the relationship between two
individuals, their genetic profiles are compared to see if they share
the same inheritance patterns at a statistically conclusive rate.
For example, the following sample report from this commercial DNA
paternity testing laboratory Universal Genetics signifies how
relatedness between parents and child is identified on those special
The partial results indicate that the child and the alleged
DNA match among these five markers. The complete test
results show this correlation on 16 markers between the child and the
tested man to enable a conclusion to be drawn as to whether or not the
man is the biological father.
Each marker is assigned with a Paternity Index (PI), which is a
statistical measure of how powerfully a match at a particular marker
indicates paternity. The PI of each marker is multiplied with each
other to generate the Combined Paternity Index (CPI), which indicates
the overall probability of an individual being the biological father
of the tested child relative to a randomly selected man from the
entire population of the same race. The CPI is then converted into a
Probability of Paternity showing the degree of relatedness between the
alleged father and child.
DNA test report in other family relationship tests, such as
grandparentage and siblingship tests, is similar to a paternity test
report. Instead of the Combined Paternity Index, a different value,
such as a Siblingship Index, is reported.
The report shows the genetic profiles of each tested person. If there
are markers shared among the tested individuals, the probability of
biological relationship is calculated to determine how likely the
tested individuals share the same markers due to a blood relationship.
Recent innovations have included the creation of primers targeting
polymorphic regions on the Y-chromosome (
Y-STR ), which allows
resolution of a mixed
DNA sample from a male and female or cases in
which a differential extraction is not possible. Y-chromosomes are
paternally inherited, so Y-
STR analysis can help in the identification
of paternally related males. Y-
STR analysis was performed in the Sally
Hemings controversy to determine if
Thomas Jefferson had sired a son
with one of his slaves. The analysis of the Y-chromosome yields weaker
results than autosomal chromosome analysis. The Y male sex-determining
chromosome, as it is inherited only by males from their fathers, is
almost identical along the patrilineal line. This leads to a less
precise analysis than if autosomal chromosomes were testing, because
of the random matching that occurs between pairs of chromosomes as
zygotes are being made.
Main article: Mitochondrial
For highly degraded samples, it is sometimes impossible to get a
complete profile of the 13
CODIS STRs. In these situations,
DNA (mtDNA) is sometimes typed due to there being many
copies of mt
DNA in a cell, while there may only be 1-2 copies of the
nuclear DNA. Forensic scientists amplify the HV1 and HV2 regions of
the mtDNA, and then sequence each region and compare single-nucleotide
differences to a reference. Because mt
DNA is maternally inherited,
directly linked maternal relatives can be used as match references,
such as one's maternal grandmother's daughter's son. In general, a
difference of two or more nucleotides is considered to be an
Heteroplasmy and poly-C differences may throw off straight
sequence comparisons, so some expertise on the part of the analyst is
DNA is useful in determining clear identities, such as
those of missing people when a maternally linked relative can be
DNA testing was used in determining that
Anna Anderson was
not the Russian princess she had claimed to be,
Anastasia Romanov .
DNA can be obtained from such material as hair shafts and old
bones/teeth. Control mechanism based on interaction point with data.
This can be determined by tooled placement in sample.
Main article: National
An early application of a
DNA database was the compilation of A
DNA Concordance, prepared by Kevin W. P. Miller and
John L. Dawson at the
University of Cambridge
University of Cambridge from 1996 to 1998 from
data collected as part of Miller's PhD thesis. There are now several
DNA databases in existence around the world. Some are private, but
most of the largest databases are government controlled. The United
States maintains the largest
DNA database , with the Combined DNA
Index System (CODIS) holding over 5 million records as of 2007. The
United Kingdom maintains the National
DNA Database (NDNAD), which is
of similar size, despite the UK's smaller population. The size of this
database, and its rate of growth, are giving concern to civil
liberties groups in the UK, where police have wide-ranging powers to
take samples and retain them even in the event of acquittal.
The U.S. Patriot Act of the
United States provides a means for the
U.S. government to get
DNA samples from other countries if they are
either a division of or a head office of a company operating in the
U.S. Under the act; the American offices of the company may not
divulge to their subsidiaries/offices in other countries the reasons
DNA samples are sought or by whom.
When a match is made from a National
DNA Databank to link a crime
scene to an offender having provided a
DNA Sample to a databank that
link is often referred to as a cold hit. A cold hit is of value in
referring the police agency to a specific suspect but is of less
evidential value than a
DNA match made from outside the
FBI agents cannot legally store
DNA of a person not convicted of a
DNA collected from a suspect not later convicted must be
disposed of and not entered into the database. In 1998, a man residing
in the UK was arrested on accusation of burglary. His
DNA was taken
and tested, and he was later released. Nine months later, this man’s
DNA was accidentally and illegally entered in the
DNA database. New
DNA is automatically compared to the
DNA found at cold cases and, in
this case, this man was found to be a match to
DNA found at a rape and
assault case one year earlier. The government then prosecuted him for
these crimes. During the trial the
DNA match was requested to be
removed from the evidence because it had been illegally entered into
the database. The request was carried out.
DNA collected from victims of rape are often stored for years
until matched with the perpetrator's, usually when committing another
crime. In 2014, Congress extended a bill that helps states deal with
"a backlog" of unexamined evidence.
CONSIDERATIONS WHEN EVALUATING
In the early days of the use of genetic fingerprinting as criminal
evidence, juries were often swayed by spurious statistical arguments
by defense lawyers along these lines: Given a match that had a 1 in 5
million probability of occurring by chance, the lawyer would argue
that this meant that in a country of say 60 million people there were
12 people who would also match the profile. This was then translated
to a 1 in 12 chance of the suspect's being the guilty one. This
argument is not sound unless the suspect was drawn at random from the
population of the country. In fact, a jury should consider how likely
it is that an individual matching the genetic profile would also have
been a suspect in the case for other reasons. Also, different DNA
analysis processes can reduce the amount of
DNA recovery if the
procedures are not properly done. Therefore, the number of times a
piece of evidence is sampled can diminish the
efficiency. Another spurious statistical argument is based on the
false assumption that a 1 in 5 million probability of a match
automatically translates into a 1 in 5 million probability of
innocence and is known as the prosecutor\'s fallacy .
RFLP , the theoretical risk of a coincidental match is 1
in 100 billion (100,000,000,000), although the practical risk is
actually 1 in 1000 because monozygotic twins are 0.2% of the human
population. Moreover, the rate of laboratory error is almost certainly
higher than this, and often actual laboratory procedures do not
reflect the theory under which the coincidence probabilities were
computed. For example, the coincidence probabilities may be calculated
based on the probabilities that markers in two samples have bands in
precisely the same location, but a laboratory worker may conclude that
similar—but not precisely identical—band patterns result from
identical genetic samples with some imperfection in the agarose gel.
However, in this case, the laboratory worker increases the coincidence
risk by expanding the criteria for declaring a match. Recent studies
have quoted relatively high error rates, which may be cause for
concern. In the early days of genetic fingerprinting, the necessary
population data to accurately compute a match probability was
sometimes unavailable. Between 1992 and 1996, arbitrary low ceilings
were controversially put on match probabilities used in
rather than the higher theoretically computed ones. Today,
become widely disused due to the advent of more discriminating,
sensitive and easier technologies.
Since 1998, the
DNA profiling system supported by The National DNA
Database in the UK is the
DNA profiling system that includes 10
STR regions and a sex-indicating test. STRs do not suffer from such
subjectivity and provide similar power of discrimination (1 in 1013
for unrelated individuals if using a full
SGM+ profile). Figures of
this magnitude are not considered to be statistically supportable by
scientists in the UK; for unrelated individuals with full matching DNA
profiles a match probability of 1 in a billion is considered
statistically supportable. However, with any
DNA technique, the
cautious juror should not convict on genetic fingerprint evidence
alone if other factors raise doubt. Contamination with other evidence
(secondary transfer) is a key source of incorrect
DNA profiles and
raising doubts as to whether a sample has been adulterated is a
favorite defense technique. More rarely, chimerism is one such
instance where the lack of a genetic match may unfairly exclude a
EVIDENCE OF GENETIC RELATIONSHIP
It is possible to use
DNA profiling as evidence of genetic
relationship, although such evidence varies in strength from weak to
positive. Testing that shows no relationship is absolutely certain.
Further, while almost all individuals have a single and distinct set
of genes, ultra-rare individuals, known as "chimeras ", have at least
two different sets of genes. There have been two cases of DNA
profiling that falsely suggested that a mother was unrelated to her
children. This happens when two eggs are fertilized at the same time
and fuse together to create one individual instead of twins.
In one case, a criminal planted fake
DNA evidence in his own body:
John Schneeberger raped one of his sedated patients in 1992 and left
semen on her underwear. Police drew what they believed to be
Schneeberger's blood and compared its
DNA against the crime scene
DNA on three occasions, never showing a match. It turned out
that he had surgically inserted a
Penrose drain into his arm and
filled it with foreign blood and anticoagulants .
The functional analysis of genes and their coding sequences (open
reading frames ) typically requires that each ORF be expressed, the
encoded protein purified, antibodies produced, phenotypes examined,
intracellular localization determined, and interactions with other
proteins sought. In a study conducted by the life science company
Nucleix and published in the journal Forensic Science International,
scientists found that an
In vitro synthesized sample of
any desired genetic profile can be constructed using standard
molecular biology techniques without obtaining any actual tissue from
that person. Nucleix claims they can also prove the difference between
DNA and any that was synthesized.
In the case of the
Phantom of Heilbronn , police detectives found DNA
traces from the same woman on various crime scenes in Austria,
Germany, and France—among them murders, burglaries and robberies.
Only after the
DNA of the "woman" matched the
DNA sampled from the
burned body of a male asylum seeker in France did detectives begin to
have serious doubts about the
DNA evidence. It was eventually
DNA traces were already present on the cotton swabs
used to collect the samples at the crime scene, and the swabs had all
been produced at the same factory in Austria. The company's product
specification said that the swabs were guaranteed to be sterile , but
DNA EVIDENCE AS EVIDENCE IN CRIMINAL TRIALS
Part of the common law series
TYPES OF EVIDENCE
* Real (physical)
* Genetic (DNA)
* Burden of proof
* Laying a foundation
* Public policy exclusions
* Similar fact
Chain of custody
Best evidence rule
Hague Evidence Convention
Hague Evidence Convention
* Dead Man\'s Statute
HEARSAY AND EXCEPTIONS
* in English law
United States law
* Business records
Declaration against interest
Present sense impression
OTHER COMMON LAW AREAS
* Wills , trusts and estates
DNA searching (sometimes referred to as “Familial DNA”
DNA Database Searching”) is the practice of creating
new investigative leads in cases where
DNA evidence found at the scene
of a crime (forensic profile) strongly resembles that of an existing
DNA profile (offender profile) in a state
DNA database but there is
not an exact match. After all other leads have been exhausted,
investigators may use specially developed software to compare the
forensic profile to all profiles taken from a state’s
to generate a list of those offenders already in the database who are
most likely to be a very close relative of the individual whose
in the forensic profile. To eliminate the majority of this list when
DNA is a man's, crime lab technicians conduct Y-STR
analysis. Using standard investigative techniques, authorities are
then able to build a family tree. The family tree is populated from
information gathered from public records and criminal justice records.
Investigators rule out family members’ involvement in the crime by
finding excluding factors such as sex, living out of state or being
incarcerated when the crime was committed. They may also use other
leads from the case, such as witness or victim statements, to identify
a suspect. Once a suspect has been identified, investigators seek to
legally obtain a
DNA sample from the suspect. This suspect
is then compared to the sample found at the crime scene to
definitively identify the suspect as the source of the crime scene
DNA database searching was first used in an investigation
leading to the conviction of Craig Harman of manslaughter in the
United Kingdom on April 19, 2004. Craig Harman was convicted using
DNA because of the partial matches from Harman's brother.
When the police questioned Harman's brother, the police noticed Harman
lived very close to the original crime scene. Harman confessed when
DNA isolated from the
DNA found on the brick, matched. Currently,
DNA database searching is not conducted on a national level
in the United States, where states determine how and when to conduct
familial searches. The first familial
DNA search with a subsequent
conviction in the
United States was conducted in Denver , Colorado, in
2008, using software developed under the leadership of Denver District
Mitch Morrissey and Denver Police Department Crime Lab
Director Gregg LaBerge. California was the first state to implement a
policy for familial searching under then Attorney General, now
Jerry Brown . In his role as consultant to the Familial
Search Working Group of the
California Department of Justice , former
Alameda County Prosecutor Rock Harmon is widely considered to have
been the catalyst in the adoption of familial search technology in
California. The technique was used to catch the Los Angeles serial
killer known as the “
Grim Sleeper ” in 2010. It wasn't a witness
or informant that tipped off law enforcement to the identity of the
"Grim Sleeper" serial killer, who had eluded police for more than two
DNA from the suspect's own son. The suspect's son was
arrested and convicted in a felony weapons charge and swabbed for DNA
last year. When his
DNA was entered into the database of convicted
felons, detectives were alerted to a partial match to evidence found
at the "Grim Sleeper" crime scenes. David Franklin Jr., also known as
the Grim Sleeper, was charged with ten counts of murder and one count
of attempted murder. More recently, familial DNA, led to the arrest
of 21-year-old Elvis Garcia on charges of sexual assault and false
imprisonment of a woman in Santa Cruz in 2008. In March 2011 Virginia
Bob McDonnell announced that
Virginia would begin using
DNA searches. Other states are expected to follow.
At a press conference in
Virginia on March 7, 2011, regarding the
East Coast Rapist , Prince William County prosecutor Paul Ebert and
Fairfax County Police Detective John Kelly said the case would have
been solved years ago if
Virginia had used familial
Aaron Thomas, the suspected East Coast Rapist, was arrested in
connection with the rape of 17 women from
Virginia to Rhode Island,
DNA was not used in the case.
Critics of familial
DNA database searches argue that the technique is
an invasion of an individual’s 4th Amendment rights. Privacy
advocates are petitioning for
DNA database restrictions, arguing that
the only fair way to search for possible
DNA matches to relatives of
offenders or arrestees would be to have a population-wide DNA
database. Some scholars have pointed out that the privacy concerns
surrounding familial searching are similar in some respects to other
police search techniques, and most have concluded that the practice
is constitutional. The
Ninth Circuit Court of Appeals
Ninth Circuit Court of Appeals in United
States v. Pool (vacated as moot) suggested that this practice is
somewhat analogous to a witness looking at a photograph of one person
and stating that it looked like the perpetrator, which leads law
enforcement to show the witness photos of similar looking individuals,
one of whom is identified as the perpetrator. Regardless of whether
DNA searching was the method used to identify the suspect,
authorities always conduct a normal
DNA test to match the suspect’s
DNA with that of the
DNA left at the crime scene.
Critics also claim that racial profiling could occur on account of
DNA testing. In the United States, the conviction rates of
racial minorities are much higher than that of the overall population.
It is unclear whether this is due to discrimination from police
officers and the courts, as opposed to a simple higher rate of offence
among minorities. Arrest-based databases, which are found in the
majority of the United States, lead to an even greater level of racial
discrimination. An arrest, as opposed to conviction, relies much more
heavily on police discretion.
For instance, investigators with Denver District Attorney’s Office
successfully identified a suspect in a property theft case using a
DNA search. In this example, the suspect’s blood left at
the scene of the crime strongly resembled that of a current Colorado
Department of Corrections prisoner. Using publicly available records,
the investigators created a family tree. They then eliminated all the
family members who were incarcerated at the time of the offense, as
well as all of the females (the crime scene
DNA profile was that of a
male). Investigators obtained a court order to collect the suspect’s
DNA, but the suspect actually volunteered to come to a police station
and give a
DNA sample. After providing the sample, the suspect walked
free without further interrogation or detainment. Later confronted
with an exact match to the forensic profile, the suspect pleaded
guilty to criminal trespass at the first court date and was sentenced
to two years probation.
Italy a familiar
DNA search has been done to solve the case of the
murder of Yara Gambirasio whose body was found in the bush three
months after her disappearance. A
DNA trace was found on the underwear
of the murdered teenage near and a
DNA sample was requested from a
person who lived near the municipality of
Brembate di Sopra and a
common male ancestor was found in the
DNA sample of a young man not
involved in the murder. After a long investigation the father of the
supposed killer was identified in Giuseppe Guerinoni a deceased man
but his two sons born from his wife were not related with the DNA
samples found on the body of Yara. After 3 and a half years the DNA
found on the underwear of the deceased girl was matched with Massimo
Giuseppe Bosetti who was arrested and accused of the murder of the
13-year-old girl.In the summer of 2016 Bosetti was found guilty and
sentenced to life by the Corte d\'assise of Bergamo.
DNA matches are not searches themselves, but are the result
of moderate stringency
CODIS searches that produce a potential match
that shares at least one allele at every locus . Partial matching
does not involve the use of familial search software, such as those
used in the UK and United States, or additional
Y-STR analysis, and
therefore often misses sibling relationships. Partial matching has
been used to identify suspects in several cases in the UK and United
States, and has also been used as a tool to exonerate the falsely
Darryl Hunt was wrongly convicted in connection with the rape
and murder of a young woman in 1984 in North Carolina. Hunt was
exonerated in 2004 when a
DNA database search produced a remarkably
close match between a convicted felon and the forensic profile from
the case. The partial match led investigators to the felon’s
brother, Willard E. Brown, who confessed to the crime when confronted
by police. A judge then signed an order to dismiss the case against
Police forces may collect
DNA samples without the suspects'
knowledge, and use it as evidence. Legality of this mode of proceeding
has been questioned in
In the United States, it has been accepted, courts often claiming
that there was no expectation of privacy , citing California v.
Greenwood (1985), in which the Supreme Court held that the Fourth
Amendment does not prohibit the warrantless search and seizure of
garbage left for collection outside the curtilage of a home . Critics
of this practice underline that this analogy ignores that "most people
have no idea that they risk surrendering their genetic identity to the
police by, for instance, failing to destroy a used coffee cup.
Moreover, even if they do realize it, there is no way to avoid
DNA in public."
In the UK , the
Human Tissue Act 2004 prohibited private individuals
from covertly collecting biological samples (hair, fingernails, etc.)
DNA analysis, but excluded medical and criminal investigations
from the offence.
The U.S. Supreme Court ruled 5–4 on June 3, 2013, in the case of
Maryland v. King , that
DNA sampling of prisoners arrested for serious
crimes is constitutional.
ENGLAND AND WALES
Evidence from an expert who has compared
DNA samples must be
accompanied by evidence as to the sources of the samples and the
procedures for obtaining the
DNA profiles. The judge must ensure that
the jury must understand the significance of
DNA matches and
mismatches in the profiles. The judge must also ensure that the jury
does not confuse the 'match probability' (the probability that a
person that is chosen at random has a matching
DNA profile to the
sample from the scene) with the probability that a person with
DNA committed the crime. In 1996 R v. Doheny Phillips LJ
gave this example of a summing up, which should be carefully tailored
to the particular facts in each case:
Members of the Jury, if you accept the scientific evidence called by
the Crown, this indicates that there are probably only four or five
white males in the
United Kingdom from whom that semen stain could
have come. The Defendant is one of them. If that is the position, the
decision you have to reach, on all the evidence, is whether you are
sure that it was the Defendant who left that stain or whether it is
possible that it was one of that other small group of men who share
Juries should weigh up conflicting and corroborative evidence, using
their own common sense and not by using mathematical formulae, such as
Bayes\' theorem , so as to avoid "confusion, misunderstanding and
Presentation And Evaluation Of Evidence Of Partial Or Incomplete DNA
In R v Bates, Moore-Bick LJ said:
We can see no reason why partial profile
DNA evidence should not be
admissible provided that the jury are made aware of its inherent
limitations and are given a sufficient explanation to enable them to
evaluate it. There may be cases where the match probability in
relation to all the samples tested is so great that the judge would
consider its probative value to be minimal and decide to exclude the
evidence in the exercise of his discretion, but this gives rise to no
new question of principle and can be left for decision on a case by
case basis. However, the fact that there exists in the case of all
partial profile evidence the possibility that a "missing" allele might
exculpate the accused altogether does not provide sufficient grounds
for rejecting such evidence. In many there is a possibility (at least
in theory) that evidence that would assist the accused and perhaps
even exculpate him altogether exists, but that does not provide
grounds for excluding relevant evidence that is available and
otherwise admissible, though it does make it important to ensure that
the jury are given sufficient information to enable them to evaluate
that evidence properly
DNA TESTING IN THE UNITED STATES
CBP chemist reads a
DNA profile to determine the origin of a
There are state laws on
DNA profiling in all 50 states of the United
States . Detailed information on database laws in each state can be
found at the
National Conference of State Legislatures website.
DEVELOPMENT OF ARTIFICIAL DNA
In August 2009, scientists in
Israel raised serious doubts concerning
the use of
DNA by law enforcement as the ultimate method of
identification. In a paper published in the journal Forensic Science
International: Genetics, the Israeli researchers demonstrated that it
is possible to manufacture
DNA in a laboratory, thus falsifying DNA
evidence. The scientists fabricated saliva and blood samples, which
DNA from a person other than the supposed donor
of the blood and saliva.
The researchers also showed that, using a
DNA database, it is
possible to take information from a profile and manufacture
match it, and that this can be done without access to any actual DNA
from the person whose
DNA they are duplicating. The synthetic DNA
oligos required for the procedure are common in molecular
The New York Times
The New York Times quoted the lead author, Daniel Frumkin, saying,
"You can just engineer a crime scene...any biology undergraduate could
perform this". Frumkin perfected a test that can differentiate real
DNA samples from fake ones. His test detects epigenetic modifications,
DNA methylation . Seventy percent of the
DNA in any
human genome is methylated, meaning it contains methyl group
modifications within a
CpG dinucleotide context. Methylation at the
promoter region is associated with gene silencing. The synthetic DNA
lacks this epigenetic modification, which allows the test to
DNA from genuine DNA.
It is unknown how many police departments, if any, currently use the
test. No police lab has publicly announced that it is using the new
test to verify
* In 1986, Richard Buckland was exonerated, despite having admitted
to the rape and murder of a teenager near
Leicester , the city where
DNA profiling was first developed. This was the first use of DNA
fingerprinting in a criminal investigation, and the first to prove a
suspect's innocence. The following year
Colin Pitchfork was
identified as the perpetrator of the same murder, in addition to
another, using the same techniques that had cleared Buckland.
* In 1987, genetic fingerprinting was used in criminal court for the
first time in the trial of a man accused of unlawful intercourse with
a mentally handicapped 14-year-old female who gave birth to a baby.
* In 1987,
Florida rapist Tommie Lee Andrews was the first person in
United States to be convicted as a result of
DNA evidence, for
raping a woman during a burglary; he was convicted on November 6,
1987, and sentenced to 22 years in prison.
* In 1988,
Timothy Wilson Spencer was the first man in
be sentenced to death through
DNA testing, for several rape and murder
charges. He was dubbed "The South Side Strangler" because he killed
victims on the south side of Richmond, Virginia. He was later charged
with rape and first-degree murder and was sentenced to death. He was
executed on April 27, 1994. David Vasquez, initially convicted of one
of Spencer's crimes, became the first man in America exonerated based
* In 1989,
Gary Dotson was the first person whose
conviction was overturned using
* In 1991,
Allan Legere was the first Canadian to be convicted as a
DNA evidence, for four murders he had committed while an
escaped prisoner in 1989. During his trial, his defense argued that
the relatively shallow gene pool of the region could lead to false
* In 1992,
DNA evidence was used to prove that Nazi doctor Josef
Mengele was buried in
Brazil under the name Wolfgang Gerhard.
* In 1992,
DNA from a palo verde tree was used to convict Mark Alan
Bogan of murder.
DNA from seed pods of a tree at the crime scene was
found to match that of seed pods found in Bogan's truck. This is the
first instance of plant
DNA admitted in a criminal case.
* In 1993,
Kirk Bloodsworth was the first person to have been
convicted of murder and sentenced to death , whose conviction was
* The 1993 rape and murder of
Mia Zapata , lead singer for the
Seattle punk band
The Gits was unsolved nine years after the murder. A
database search in 2001 failed, but the killer's
DNA was collected
when he was arrested in
Florida for burglary and domestic abuse in
* The science was made famous in the
United States in 1994 when
prosecutors heavily relied on
DNA evidence allegedly linking O. J.
Simpson to a double murder . The case also brought to light the
laboratory difficulties and handling procedure mishaps that can cause
such evidence to be significantly doubted.
* In 1994,
Royal Canadian Mounted Police
Royal Canadian Mounted Police (RCMP) detectives
successfully tested hairs from a cat known as Snowball , and used the
test to link a man to the murder of his wife, thus marking for the
first time in forensic history the use of non-human animal
identify a criminal (Plant
DNA was used in 1992, see above).
* In 1994, the claim that
Anna Anderson was Grand Duchess Anastasia
Nikolaevna of Russia was tested after her death using samples of her
tissue that had been stored at a Charlottesville,
following a medical procedure. The tissue was tested using DNA
fingerprinting, and showed that she bore no relation to the
* In 1994,
Earl Washington, Jr. , of
Virginia had his death sentence
commuted to life imprisonment a week before his scheduled execution
date based on
DNA evidence. He received a full pardon in 2000 based on
more advanced testing. His case is often cited by opponents of the
death penalty .
* In 1995, the British
Forensic Science Service carried out its
first mass intelligence
DNA screening in the investigation of the
Naomi Smith murder case.
* In 1998,
Richard J. Schmidt was convicted of attempted
second-degree murder when it was shown that there was a link between
DNA of the human immunodeficiency virus (HIV) he had been
accused of injecting in his girlfriend and viral
DNA from one of his
patients with AIDS. This was the first time viral
had been used as evidence in a criminal trial.
* In 1999, Raymond Easton, a disabled man from
Swindon , England,
was arrested and detained for seven hours in connection with a
burglary. He was released due to an inaccurate
DNA match. His
been retained on file after an unrelated domestic incident some time
* In 2000 Frank Lee Smith was proved innocent by
DNA profiling of
the murder of an eight-year-old girl after spending 14 years on death
row in Florida, USA. However he had died of cancer just before his
innocence was proven. In view of this the
Florida state governor
ordered that in future any death row inmate claiming innocence should
* In May 2000 Gordon Graham murdered Paul Gault at his home in
Lisburn , Northern Ireland. Graham was convicted of the murder when
DNA was found on a sports bag left in the house as part of an
elaborate ploy to suggest the murder occurred after a burglary had
gone wrong. Graham was having an affair with the victim's wife at the
time of the murder. It was the first time Low Copy Number
DNA was used
in Northern Ireland.
* In 2001, Wayne Butler was convicted for the murder of Celia Douty
. It was the first murder in
Australia to be solved using DNA
* In 2002, the body of
James Hanratty , hanged in 1962 for the "A6
murder", was exhumed and
DNA samples from the body and members of his
family were analysed. The results convinced Court of Appeal judges
that Hanratty's guilt, which had been strenuously disputed by
campaigners, was proved "beyond doubt". Paul Foot and some other
campaigners continued to believe in Hanratty's innocence and argued
DNA evidence could have been contaminated, noting that the
DNA samples from items of clothing, kept in a police laboratory
for over 40 years "in conditions that do not satisfy modern evidential
standards", had had to be subjected to very new amplification
techniques in order to yield any genetic profile. However, no DNA
other than Hanratty's was found on the evidence tested, contrary to
what would have been expected had the evidence indeed been
* In 2002,
DNA testing was used to exonerate
Douglas Echols , a man
who was wrongfully convicted in a 1986 rape case. Echols was the 114th
person to be exonerated through post-conviction
* In August 2002, Annalisa Vincenzi was shot dead in
Bartender Peter Hamkin, 23, was arrested, in
Merseyside , in March
2003 on an extradition warrant heard at Bow Street Magistrates\' Court
London to establish whether he should be taken to
Italy to face a
DNA "proved" he shot her, but he was cleared on other
* In 2003, Welshman Jeffrey Gafoor was convicted of the 1988 murder
of Lynette White , when crime scene evidence collected 12 years
earlier was re-examined using STR techniques, resulting in a match
with his nephew. This may be the first known example of the
DNA of an
innocent yet related individual being used to identify the actual
criminal, via "familial searching".
* In March 2003, Josiah Sutton was released from prison after
serving four years of a twelve-year sentence for a sexual assault
DNA samples taken from Sutton were retested in
the wake of the
Houston Police Department
Houston Police Department 's crime lab scandal of
* In June 2003, because of new
DNA evidence, Dennis Halstead, John
Kogut and John Restivo won a re-trial on their murder conviction,
their convictions were struck down and they were released. The three
men had already served eighteen years of their thirty-plus-year
* The trial of
Robert Pickton (convicted in December 2003) is
notable in that
DNA evidence is being used primarily to identify the
victims, and in many cases to prove their existence.
* In 2004,
DNA testing shed new light into the mysterious 1912
Bobby Dunbar , a four-year-old boy who vanished
during a fishing trip. He was allegedly found alive eight months later
in the custody of William Cantwell Walters, but another woman claimed
that the boy was her son, Bruce Anderson, whom she had entrusted in
Walters' custody. The courts disbelieved her claim and convicted
Walters for the kidnapping. The boy was raised and known as Bobby
Dunbar throughout the rest of his life. However,
DNA tests on Dunbar's
son and nephew revealed the two were not related, thus establishing
that the boy found in 1912 was not Bobby Dunbar, whose real fate
* In 2005, Gary Leiterman was convicted of the 1969 murder of Jane
Mixer, a law student at the
University of Michigan
University of Michigan , after
on Mixer's pantyhose was matched to Leiterman.
DNA in a drop of blood
on Mixer's hand was matched to John Ruelas, who was only four years
old in 1969 and was never successfully connected to the case in any
other way. Leiterman's defense unsuccessfully argued that the
unexplained match of the blood spot to Ruelas pointed to
cross-contamination and raised doubts about the reliability of the
lab's identification of Leiterman.
* In December 2005, Evan Simmons was proven innocent of a 1981
attack on an Atlanta woman after serving twenty-four years in prison.
Mr. Clark is the 164th person in the
United States and the fifth in
Georgia to be freed using post-conviction
* In November 2008,
Anthony Curcio was arrested for masterminding
one of the most elaborately planned armored car heists in history. DNA
evidence linked Curcio to the crime.
* In March 2009,
Sean Hodgson —convicted of 1979 killing of Teresa
De Simone, 22, in her car in
Southampton —was released after tests
DNA from the scene was not his. It was later matched to DNA
retrieved from the exhumed body of David Lace. Lace had previously
confessed to the crime but was not believed by the detectives. He
served time in prison for other crimes committed at the same time as
the murder and then committed suicide in 1988.
DNA paternity testing
Capillary electrophoresis (CE)
Full genome sequencing
Harvey v. Horan
Maryland v. King
Phantom of Heilbronn
Restriction fragment length polymorphism
Restriction fragment length polymorphism (RFLP)
Short tandem repeat (STR)
International Society for Forensic Genetics
International Society of Genetic Genealogy
* Biology portal
* Statistics portal
* Criminal justice portal
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Australian Broadcasting Corporation