How does forensic identification work?

Any type of organism can be identified by examination of DNA sequences unique to that
species. Identifying individuals within a species is less precise at this time, although when DNA
sequencing technologies progress farther, direct comparison of very large DNA segments, and
possibly even whole genomes, will become feasible and practical and will allow precise
individual identification.

To identify individuals, forensic scientists scan 13 DNA regions, or loci, that vary from person to
person and use the data to create a DNA profile of that individual (sometimes called a DNA
fingerprint). There is an extremely small chance that another person has the same DNA profile
for a particular set of 13 regions.

Some Examples of DNA Uses for Forensic Identification

 Identify potential suspects whose DNA may match evidence left at crime scenes
 Exonerate persons wrongly accused of crimes
 Identify crime and catastrophe victims
 Establish paternity and other family relationships
 Identify endangered and protected species as an aid to wildlife officials (could be used for
prosecuting poachers)
 Detect bacteria and other organisms that may pollute air, water, soil, and food
 Match organ donors with recipients in transplant programs
 Determine pedigree for seed or livestock breeds
 Authenticate consumables such as caviar and wine

Is DNA effective in identifying persons?

[answer provided by Daniel Drell of the U.S. DOE Human Genome Program]

DNA identification can be quite effective if used intelligently. Portions of the DNA sequence
that vary the most among humans must be used; also, portions must be large enough to overcome
the fact that human mating is not absolutely random.

Consider the scenario of a crime scene investigation . . .

Assume that type O blood is found at the crime scene. Type O occurs in about 45% of
Americans. If investigators type only for ABO, finding that the "suspect" in a crime is type O
really doesn't reveal very much.

If, in addition to being type O, the suspect is a blond, and blond hair is found at the crime scene,
you now have two bits of evidence to suggest who really did it. However, there are a lot of Type
O blonds out there.
If you find that the crime scene has footprints from a pair of Nike Air Jordans (with a distinctive
tread design) and the suspect, in addition to being type O and blond, is also wearing Air Jordans
with the same tread design, you are much closer to linking the suspect with the crime scene.

In this way, by accumulating bits of linking evidence in a chain, where each bit by itself isn't
very strong but the set of all of them together is very strong, you can argue that your suspect
really is the right person.

With DNA, the same kind of thinking is used; you can look for matches (based on sequence or
on numbers of small repeating units of DNA sequence) at many different locations on the
person's genome; one or two (even three) aren't enough to be confident that the suspect is the
right one, but thirteen sites are used. A match at all thirteen is rare enough that you (or a
prosecutor or a jury) can be very confident ("beyond a reasonable doubt") that the right person is
accused.

See some recent articles about statistical analysis on this topic:

 NY Times Freakonomics Blog, Aug.19, 2008

 Los Angeles Times, July 20, 2008

How is DNA typing done?

Only one-tenth of a single percent of DNA (about 3 million bases) differs from one person to the
next. Scientists can use these variable regions to generate a DNA profile of an individual, using
samples from blood, bone, hair, and other body tissues and products.

In criminal cases, this generally involves obtaining samples from crime-scene evidence and a
suspect, extracting the DNA, and analyzing it for the presence of a set of specific DNA regions
(markers).

Scientists find the markers in a DNA sample by designing small pieces of DNA (probes) that
will each seek out and bind to a complementary DNA sequence in the sample. A series of probes
bound to a DNA sample creates a distinctive pattern for an individual. Forensic scientists
compare these DNA profiles to determine whether the suspect's sample matches the evidence
sample. A marker by itself usually is not unique to an individual; if, however, two DNA samples
are alike at four or five regions, odds are great that the samples are from the same person.

If the sample profiles don't match, the person did not contribute the DNA at the crime scene.

If the patterns match, the suspect may have contributed the evidence sample. While there is a
chance that someone else has the same DNA profile for a particular probe set, the odds are
exceedingly slim. The question is, How small do the odds have to be when conviction of the
guilty or acquittal of the innocent lies in the balance? Many judges consider this a matter for a
jury to take into consideration along with other evidence in the case. Experts point out that using
DNA forensic technology is far superior to eyewitness accounts, where the odds for correct
identification are about 50:50.

The more probes used in DNA analysis, the greater the odds for a unique pattern and against a
coincidental match, but each additional probe adds greatly to the time and expense of testing.
Four to six probes are recommended. Testing with several more probes will become routine,
observed John Hicks (Alabama State Department of Forensic Services). He predicted that DNA
chip technology (in which thousands of short DNA sequences are embedded in a tiny chip) will
enable much more rapid, inexpensive analyses using many more probes and raising the odds
against coincidental matches.

What are some of the DNA technologies used in forensic investigations?

Restriction Fragment Length Polymorphism (RFLP)

RFLP is a technique for analyzing the variable lengths of DNA fragments that result from
digesting a DNA sample with a special kind of enzyme. This enzyme, a restriction endonuclease,
cuts DNA at a specific sequence pattern know as a restriction endonuclease recognition site. The
presence or absence of certain recognition sites in a DNA sample generates variable lengths of
DNA fragments, which are separated using gel electrophoresis. They are then hybridized with
DNA probes that bind to a complementary DNA sequence in the sample.

RFLP was one of the first applications of DNA analysis to forensic investigation. With the
development of newer, more efficient DNA-analysis techniques, RFLP is not used as much as it
once was because it requires relatively large amounts of DNA. In addition, samples degraded by
environmental factors, such as dirt or mold, do not work well with RFLP.

PCR Analysis
Polymerase chain reaction (PCR) is used to make millions of exact copies of DNA from a
biological sample. DNA amplification with PCR allows DNA analysis on biological samples as
small as a few skin cells. With RFLP, DNA samples would have to be about the size of a quarter.
The ability of PCR to amplify such tiny quantities of DNA enables even highly degraded
samples to be analyzed. Great care, however, must be taken to prevent contamination with other
biological materials during the identifying, collecting, and preserving of a sample.

STR Analysis
Short tandem repeat (STR) technology is used to evaluate specific regions (loci) within nuclear
DNA. Variability in STR regions can be used to distinguish one DNA profile from another. The
Federal Bureau of Investigation (FBI) uses a standard set of 13 specific STR regions for CODIS.
CODIS is a software program that operates local, state, and national databases of DNA profiles
from convicted offenders, unsolved crime scene evidence, and missing persons. The odds that
two individuals will have the same 13-loci DNA profile is about one in a billion.

Mitochondrial DNA Analysis

Mitochondrial DNA analysis (mtDNA) can be used to examine the DNA from samples that
cannot be analyzed by RFLP or STR. Nuclear DNA must be extracted from samples for use in
RFLP, PCR, and STR; however, mtDNA analysis uses DNA extracted from another cellular
organelle called a mitochondrion. While older biological samples that lack nucleated cellular
material, such as hair, bones, and teeth, cannot be analyzed with STR and RFLP, they can be
analyzed with mtDNA. In the investigation of cases that have gone unsolved for many years,
mtDNA is extremely valuable.

All mothers have the same mitochondrial DNA as their offspring. This is because the
mitochondria of each new embryo comes from the mother's egg cell. The father's sperm
contributes only nuclear DNA. Comparing the mtDNA profile of unidentified remains with the
profile of a potential maternal relative can be an important technique in missing-person
investigations.

Y-Chromosome Analysis
The Y chromosome is passed directly from father to son, so analysis of genetic markers on the Y
chromosome is especially useful for tracing relationships among males or for analyzing
biological evidence involving multiple male contributors.

Some Interesting Uses of DNA Forensic Identification

 Identifying September 11th Victims

Identifying the victims of the September 11, 2001, World Trade Center attack presented a
unique forensic challenge because the number and identity of the victims were unknown
and many victims were represented only by bone and tissue fragments. At the time of the
attack, no systems were in place for rapidly identifying victims in disasters with more
than 500 fatalities. The National Institutes of Justice assembled a panel of experts from
the National Institutes of Health and other institutions to develop processes to identify
victims using DNA collected at the site. Panel members produced forms and kits needed
to enable the medical examiner’s office to collect reference DNA from victims’
previously stored medical specimens. These specimens were collected and entered into a
database. The medical examiner's office also received about 20,000 pieces of human
remains from the World Trade Center site, and a database of the victims’ DNA profiles
was created. New information technology infrastructure was developed for data transfer
between the state police and medical examiner’s office and to interconnect the databases
and analytical tools used by panel members. In 2005 the search was declared at an end
because many of the unidentified remains were too small or too damaged to be identified
by the DNA extraction methods available at that time. Remains of only 1585, of the 2792
people known to have died had been identified. In 2007, the medical examiner's office
reopened the search after the Bode Technology Group developed a new methodology of
DNA extraction that required much less sample material than previously necessary. The
victim DNA database and the new methods have allowed more victims to be identified,
and further identifications will be possible as forensic DNA technology improves.
 The DNA Shoah Project
The DNA Shoah Project is a genetic database of people who lost family during the
 Holocaust. The database will serve to reunite families separated during wartime and aid
in identifying victims who remain buried anonymously throughout Europe.
 Disappeared Children in Argentina
Numerous people (known as "the Disappeared") were kidnapped and murdered in
Argentina in the 1970s. Many were pregnant. Their children were taken at birth and,
along with other kidnapped children, were raised by their kidnappers. The grandparents
of these children have been looking for them for many years. Read an article about a
DNA researcher who has been helping them.
 Tomb of the Unknowns
 Son of Louis XVI and Marie Antionette
PARIS, Apr 19, 2000 (Reuters) -- Scientists cracked one of the great mysteries of
European history by using DNA tests to prove that the son of executed French King
Louis XVI and Marie-Antoinette died in prison as a child. Royalists have argued for 205
years over whether Louis-Charles de France perished in 1795 in a grim Paris prison or
managed to escape the clutches of the French Revolution. In December 1999, the
presumed heart of the child king was removed from its resting place to enable scientists
to compare its DNA makeup with samples from living and dead members of the royal
family -- including a lock of his mother Marie-Antoinette's hair.
 The Murdered Nicholas Romanov, the Last Czar of Russia, and His Family
 Peruvian Ice Maiden
The Ice Maiden was a 12-to-14-year old girl sacrificed by Inca priests 500 years ago to
satisfy the mountain gods of the Inca people. She was discovered in 1995 by climbers on
Mt. Ampato in the Peruvian Andes. She is perhaps the best preserved mummy found in
the Andes because she was in a frozen state. Analysis of the Ice Maiden's DNA offers a
wonderful opportunity for understanding her genetic origin. If we could extract
mitochondrial DNA from the Ice Maiden's tissue and successfully amplify and sequence
it, then we could begin to trace her maternal line of descent and possibly locate past and
current relatives.
 African Lemba Tribesmen
In southern Africa, a people known as the Lemba heed the call of the shofar. They have
believed for generations that they are Jews, direct descendants of the biblical patriarchs
Abraham, Isaac, and Jacob. However unlikely the Lemba's claims may seem, modern
science is finding ways to test them. The ever-growing understanding of human genetics
is revealing connections between peoples that have never been seen before.
 Super Bowl XXXIV Footballs and 2000 Summer Olympic Souvenirs
The NFL used DNA technology to tag all the Super Bowl XXXIV balls, ensuring their
authenticity for years to come and helping to combat the growing epidemic of sports
memorabilia fraud. The footballs were marked with an invisible, yet permanent, strand of
synthetic DNA. The DNA strand is unique and is verifiable any time in the future using a
specially calibrated laser.

A section of human genetic code taken from several unnamed Australian athletes was
added to ink used to mark all official goods — everything from caps to socks — from the
2000 Summer Olympic Games. The technology is used as a way to mark artwork or one-
of-a-kind sports souvenirs.
  Migration Patterns
Evolutionarily stable mitochondrial DNA and Y chromosomes have allowed
bioanthropologists to begin to trace human migration patterns around the world and
identify family lineage
o See Genetic Anthropology, Ancestry, and Ancient Human Migrations
 Wine Heritage
Using DNA fingerprinting techniques akin to those used to solve crimes and settle
paternity suits, scientists at the University of California, Davis, have discovered that 18 of
the world's most renowned grapevine varieties, or cultivars are close relatives. These
include varieties long grown in northeastern France such as Chardonnay, the "king of
whites," and reds such as Pinot and Gamay noir, are close relatives.
 DNA Banks for Endangered Animal Species
 Poached Animals
 Declining Grizzly Bear Population
 Snowball the Cat
A woman was murdered in Prince Edward Island, Canada. Her estranged husband was
implicated because a snowy white cat hair was found in a jacket near the scene of the
crime, and DNA fragments from the hair matched DNA fragments from Snowball, the
cat belonging to the husband's parents. See M. Menotti-Raymond et al., "Pet cat hair
implicates murder suspect," Nature, 386, 774, 1997. Also see Holmes, Judy, Feline
Forensics, Syracuse University Magazine,  Summer 2001.
 Angiosperm Witness for the Prosecution
The first case in which a murderer was convicted on plant DNA evidence was described
in the PBS TV series, "Scientific American Frontiers." A young woman was murdered in
Phoenix, Arizona, and a pager found at the scene of the crime led the police to a prime
suspect. He admitted picking up the victim but claimed she had robbed him of his wallet
and pager. The forensic squad examined the suspect's pickup truck and collected pods
later identified as the fruits of the palo verde tree (Cercidium spp.). One detective went
back to the murder scene and found several Palo Verde trees, one of which showed
damage that could have been caused by a vehicle. The detective's superior officer
innocently suggested the possibility of linking the fruits and the tree by using DNA
comparison, not realizing that this had never been done before. Several researchers were
contacted before a geneticist at the University of Arizona in Tucson agreed to take on the
case. Of course, it was crucial to establish evidence that would stand up in court on
whether individual plants (especially Palo Verde trees) have unique patterns of DNA. A
preliminary study on samples from different trees at the murder scene and elsewhere
quickly established that each Palo Verde tree is unique in its DNA pattern. It was then a
simple matter to link the pods from the suspect's truck to the damaged tree at the murder
scene and obtain a conviction. [WNED-TV (PBS - Buffalo, N.Y.)]

DNA Forensics Databases

National DNA Databank: CODIS

The COmbined DNA Index System, CODIS, blends computer and DNA technologies into a tool
for fighting violent crime. The current version of CODIS uses two indexes to generate
investigative leads in crimes where biological evidence is recovered from the crime scene. The
Convicted Offender Index contains DNA profiles of individuals convicted of felony sex offenses
(and other violent crimes). The Forensic Index contains DNA profiles developed from crime
scene evidence. All DNA profiles stored in CODIS are generated using STR (short tandem
repeat) analysis.

CODIS utilizes computer software to automatically search its two indexes for matching DNA
profiles. Law enforcement agencies at federal, state, and local levels take DNA from biological
evidence (e.g., blood and saliva) gathered in crimes that have no suspect and compare it to the
DNA in the profiles stored in the CODIS systems. If a match is made between a sample and a
stored profile, CODIS can identify the perpetrator.

This technology is authorized by the DNA Identification Act of 1994. All 50 states have laws
requiring that DNA profiles of certain offenders be sent to CODIS. As of August 2007, the
database contained over 5 million DNA profiles in its Convicted Offender Index and about
188,000 DNA profiles collected from crime scenes but not connected to a particular offender.
(source http://www.fbi.gov/hq/lab/codis/clickmap.htm).

As more offender DNA samples are collected and law enforcement officers become better
trained and equipped to collect DNA samples at crime scenes, the backlog of samples awaiting
testing throughout the criminal justice system is increasing dramatically. In March 2003
President Bush proposed $1 billion in funding over 5 years to reduce the DNA testing backlog,
build crime lab capacity, stimulate research and development, support training, protect the
innocent, and identify missing persons. For more information, see the U.S. Department of
Justice's Advancing Justice Through DNA Technology.

DNA profiling
From Wikipedia, the free encyclopedia
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Not to be confused with full genome sequencing.
 

Forensic science
Physiological sciences

Forensic pathology
Forensic dentistry

Forensic anthropology
Forensic entomology
Forensic archaeology

Social sciences

Forensic criminology
Forensic psychology
Forensic psychiatry

Forensic criminalistics

Fingerprint analysis
Forensic accounting

Ballistics
Body identification

DNA profiling
Forensic arts
Forensic toxicology
 Forensic footwear evidence

Questioned document examination

Digital forensics

Computer forensics
Network forensics
Database forensics
Mobile device forensics

Related disciplines

Forensic engineering
Forensic linguistics
Forensic materials engineering
Forensic polymer engineering
Fire investigation
Detection of fire accelerants
Forensic Security
Vehicular accident reconstruction

People

Auguste Ambroise Tardieu

Edmond Locard
William M. Bass

Related articles

Crime scene
CSI effect
Pollen calendar
 Trace evidence
Skid mark
Use of DNA in forensic entomology

v • d • e

DNA profiling (also called DNA testing, DNA typing, or genetic fingerprinting) 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. DNA profiling should not be
confused with full genome sequencing.[1] It is used in, for example, parental testing and rape
investigation.

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.[2] DNA profiling uses repetitive ("repeat")
sequences that are highly variable,[2] 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.

The DNA profiling technique was first reported in 1984[3] by Sir Alec Jeffreys at the University
of Leicester in England,[4] and is now the basis of several national DNA databases. Dr. Jeffreys's
genetic fingerprinting was made commercially available in 1987, when a chemical company,
ICI, started a blood-testing center in England.[5]

Contents
[hide]

 1 DNA profiling process

o 1.1 RFLP analysis
o 1.2 PCR analysis
o 1.3 STR analysis
o 1.4 AmpFLP
o 1.5 DNA family relationship analysis
o 1.6 Y-chromosome analysis
o 1.7 Mitochondrial analysis
 2 DNA databases
 3 Considerations when evaluating DNA evidence
o 3.1 Evidence of genetic relationship
 4 Fake DNA evidence
 5 DNA evidence as evidence in criminal trials
o 5.1 Familial searching
 o 5.2 Surreptitious DNA collecting
o 5.3 England and Wales
 5.3.1 Presentation and evaluation of evidence of partial or incomplete
DNA profiles
o 5.4 DNA testing in the US
o 5.5 Development of artificial DNA
 6 Cases
 7 See also
 8 References
 9 External links

[edit] DNA profiling process

The process begins with a sample of an individual's DNA (typically called a "reference sample").
The most desirable method of collecting a reference sample is the use of a buccal swab, as this
reduces the possibility of contamination. When this is not available (e.g. because a court order
may be needed and not obtainable) other methods may need to be used to collect a sample of
blood, saliva, semen, or other appropriate fluid or tissue from personal items (e.g. toothbrush,
razor, etc.) or from stored samples (e.g. banked sperm or biopsy tissue). Samples obtained from
blood relatives (biological relative) can provide an indication of an individual's profile, as could
human remains which 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.

Variations of VNTR allele lengths in 6 individuals.

[edit] RFLP analysis

Main article: Restriction fragment length polymorphism

The first methods for finding out genetics used for DNA profiling involved restriction enzyme
digestion, followed by Southern blot analysis. Although polymorphisms can exist in the
restriction enzyme cleavage sites, more commonly the enzymes and DNA probes were used to
analyze VNTR loci. However, the 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 parental testing). These early techniques have
been supplanted by PCR-based assays.

[edit] PCR analysis

Main article: polymerase chain reaction

With the invention of the polymerase chain reaction (PCR) technique, 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, using oligonucleotide primers and a thermostable DNA polymerase. 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 as
RFLP. It was also difficult to determine a DNA profile for mixed samples, such as a vaginal
swab from a sexual assault victim.

Fortunately, the PCR method is readily adaptable for analyzing VNTR loci. In the United States
the FBI has standardized a set of 13 VNTR assays for DNA typing, and has organized the
CODIS database for forensic identification in criminal cases. Similar assays and databases have
been set up in other countries. Also, commercial kits are available that analyze single-nucleotide
polymorphisms (SNPs). These kits use PCR to amplify specific regions with known variations
and hybridize them to probes anchored on cards, which results in a colored spot corresponding to
the particular sequence variation.

[edit] STR analysis

Main article: Short tandem repeats

The method of DNA profiling used today is based on PCR and uses 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 amplified using 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 electrophoresis.

Each STR is polymorphic, however, 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 which amplify the CODIS 13 core loci are almost universal, while in the UK
the SGM+ 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 13 loci
that are currently used for discrimination in CODIS are independently assorted (having a certain
number of repeats at one locus doesn't 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 (1 with 18 zeros after it) or more.
However, DNA database searches showed much more frequent than expected false DNA
matches including one perfect 13 locus match out of only 30,000 DNA samples in Maryland in
January 2007.[6] Moreover, since there are about 12 million monozygotic twins on Earth, that
theoretical probability is useless. For example, the actual probability that 2 random people have
the same DNA depends on whether there were twins or triplets (etc.) in the family, and the
number of loci used in the test. Where twins are common, the probability of matching the DNA
is 22 in 1000, or about 2.2 in 100 will have matching DNA.

In practice, the risk of contaminated-matching is much greater than matching a distant relative,
such as a sample being contaminated from nearby objects, or from left-over cells transferred
from a prior test. Logically, 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, 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 full DNA
profiles should differ (except for twins), to prove that a person wasn't actually matched as being
related to their own DNA in another sample.

[edit] AmpFLP

Main article: 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 locus for fingerprinting was the D1S80 locus. As with all PCR based 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.

[edit] DNA family relationship analysis

Using PCR technology, 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 of 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.

While a lot of DNA contains information for a certain function, there is some called junk DNA,
which is currently used for human identification. At some special locations (called loci) in the
junk DNA, predictable inheritance patterns were found to be useful in determining biological
relationships. These locations contain specific DNA markers that DNA 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.

Each person’s 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 markers:

DNA Marker Mother Child Alleged father

D21S11 28, 30 28, 31 29, 31
D7S820 9, 10 10, 11 11, 12
TH01 14, 15 14, 16 15, 16
D13S317 7, 8 7, 9 8, 9
D19S433 14, 16.2 14, 15 15, 17
The partial results indicate that the child and the alleged father’s DNA match among these five
markers. The complete test results show this correlation on 16 markers between the child and the
tested man to draw a conclusion of whether or not the man is the biological father.

Scientifically, 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 any
random 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.

The 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.

[edit] Y-chromosome analysis

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 and/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.

[edit] Mitochondrial analysis

Main article: Mitochondrial DNA

For highly degraded samples, it is sometimes impossible to get a complete profile of the 13
CODIS STRs. In these situations, mitochondrial DNA (mtDNA) is sometimes typed due to there
being many copies of mtDNA 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, then sequence each region
and compare single-nucleotide differences to a reference. Because mtDNA is maternally
inherited, directly linked maternal relatives can be used as match references, such as one's
maternal grandmother's daughter's son. A difference of two or more nucleotides is generally
considered to be an exclusion. Heteroplasmy and poly-C differences may throw off straight
sequence comparisons, so some expertise on the part of the analyst is required. mtDNA is useful
in determining clear identities, such as those of missing people when a maternally linked relative
can be found. mtDNA testing was used in determining that Anna Anderson was not the Russian
princess she had claimed to be, Anastasia Romanov.

mtDNA can be obtained from such material as hair shafts and old bones/teeth..
[edit] DNA databases
Main article: National DNA database

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, holding over 5 million records as of 2007.[7]
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, is 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.[8]

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[clarification needed] are either a division of, or head office of, a
company operating in the U.S. Under the act, the American offices of the company can't divulge
to their subsidiaries/offices in other countries the reasons that these DNA samples are sought or
by whom.[citation needed]

When a match is made from a National DNA Databank to link a crime scene to an offender who
has 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 DNA Databank.[9]

[edit] Considerations when evaluating DNA evidence

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 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. 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.

When using 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.[10] 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 RFLP analysis
rather than the higher theoretically computed ones.[11] Today, RFLP has become widely disused
due to the advent of more discriminating, sensitive and easier technologies.

STRs do not suffer from such subjectivity and provide similar power of discrimination (1 in
10^13 for unrelated individuals if using a full SGM+ profile) It should be noted that 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 (Since 1998 the DNA profiling system supported by The
National DNA Database in the UK is the SGM+ DNA profiling system which includes 10 STR
regions and a sex indicating test. 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
suspect.

[edit] Evidence of genetic relationship

It's also possible to use DNA profiling as evidence of genetic relationship, but testing that shows
no relationship isn't absolutely certain. While almost all individuals have a single and distinct set
of genes, rare individuals, known as "chimeras", have at least two different sets of genes. There
have been several cases of DNA profiling that falsely "proved" that a mother was unrelated to
her children.[12]

[edit] Fake DNA evidence

This section does not cite any references or sources.
Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and
removed. (May 2010)

The value of DNA evidence has to be seen in light of recent cases where criminals planted fake
DNA samples at crime scenes. In one case, a criminal even planted fake DNA evidence in his
own body: Dr. 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 semen 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.

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 DNA matching any
desired genetic profile can be constructed using standard molecular biology techniques without
obtaining any actual tissue from that person.

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, detectives began to have serious doubts
about the DNA evidence. In that case, 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 not DNA-free.

[edit] DNA evidence as evidence in criminal trials

Evidence
Part of the common law series

Types of evidence

Testimony · Documentary
Real (physical) · Digital
Exculpatory · Scientific
Demonstrative
Eyewitness identification
Genetic (DNA) · Lies

Relevance

Burden of proof · Laying a foundation

Public policy exclusions
Character · Habit · Similar fact

Authentication

Chain of custody
Judicial notice · Best evidence rule
Self-authenticating document
 Ancient document

Witnesses

Competence · Privilege
Direct examination
Cross-examination  · Redirect
Impeachment · Recorded recollection
Expert witness · Dead Man's Statute

Hearsay and exceptions

in English law · in United States law

Confessions · Business records
Excited utterance · Dying declaration
Party admission · Ancient document
Declaration against interest
Present sense impression · Res gestae
Learned treatise · Implied assertion

Other common law areas

Contract · Tort · Property

Wills; trusts and estates
Criminal law

v • d • e

[edit] Familial searching

Familial searching is the use of family members' DNA to identify a closely related suspect in
jurisdictions where large DNA databases exist, but no exact match has been found. The first
successful use of the practice was in a UK case where a man was convicted of manslaughter
when he threw a brick stained with his own blood into a moving car. Police could not get an
exact match to the UK's DNA database because the man had no criminal convictions, but police
implicated him using a close relative's DNA.[13] The technique was used to catch a Los Angeles
serial killer known as the "Grim Sleeper" in 2010.[14]
[edit] Surreptitious DNA collecting

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 Australia.

In the United States, it has been accepted, courts often claiming that there was no expectation of
privacy, citing California v. Greenwood (1985), during 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 the fact 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 abandoning one’s DNA in public." [15]

In the UK, the Human Tissue Act 2004 prohibited private individuals from covertly collecting
biological samples (hair, fingernails, etc.) for DNA analysis, but excluded medical and criminal
investigations from the offense.[16]

[edit] 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.[17] 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 'likelihood ratio' (the probability that a person with matching DNA
committed the crime). In R v. Doheny[18] 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 the
same DNA characteristics.

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 misjudgment".[19]

[edit] Presentation and evaluation of evidence of partial or incomplete DNA profiles

In R v Bates[20], 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 exists which would assist the accused and
perhaps even exculpate him altogether, 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”.[21]

[edit] DNA testing in the US

There are state laws on DNA profiling in all 50 states of the United States.[22] Detailed
information on database laws in each state can be found at the National Conference of State
Legislatures website.[23]

[edit] Development of artificial DNA

This section is written like a personal reflection or essay and may require cleanup. Please
help improve it by rewriting it in an encyclopedic style. (April 2010)

In August 2009, scientists in Israel stunned the forensic sciences and raised serious questions
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, and thus falsify DNA
evidence. The scientists fabricated saliva and blood samples, which originally contained DNA
from a person other than the ostensible donor of the blood and saliva.[24]

The researchers also showed that, using a DNA database, it is possible to take information from a
profile and manufacture DNA to 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 laboratories.[24]

Dr. Daniel Frumkin, lead author on the paper, was quoted in The New York Times as saying,
"You can just engineer a crime scene... any biology undergraduate could perform this."[24]

Dr. Frumkin perfected a test that can forensically differentiate real DNA samples from fake ones.
His test detects epigenetic modifications, in particular, 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
distinguish manufactured DNA from original, genuine, DNA.[24]
It is unknown how many, if any, police departments currently use the test, which appears to be a
serious issue in light of Frumkin’s claim that the DNA manufacturing procedure is within the
grasp of any undergraduate biology student. No police lab has publicly announced that it is using
the new test to verify DNA results, while FSI Genetics says that any forensic laboratory doing
DNA identification should adopt this test to authenticate its results as "real" DNA.[25]