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DNA LEGISLATION

"DNA Profiling is a powerful technology for personal identification. Also known as "DNA Typing or "DNA
Fingerprinting.” DNA Profiling is an authoritative technique that is capable of distinguishing every
human individual from the other individual, with the EXCEPTION of identical twins or clones. This
technology has revolutionized investigation in violent crime involving biological materials, parentage
disputes, identity of deceased etc. In India DNA Profiling is still at the take off stage in spite of being
introduced in crime investigations a decade and half ago. One of the major hindrances in proper
implementation of the technology all over India is due to the delay in amending certain sections of the
Cr. P.C. and the Indian Evidence Act for acceptance as evidence on par with blood grouping etc. This is
also necessary for the Judiciary to set down guidelines on how trial courts should approach cases
involving DNA Evidence. The Judicial Courts at present have not given guidance as to how DNA Evidence
is to be evaluated. Some prominent scientists of DNA Profiling claimed that lawmakers are extremely
lethargic and therefore lagging far behind advanced countries. They were also adverse to the idea that
cross-examination should not involve questions relating to the involvement of the DNA examiner in the
case. It is unfortunate that the exponents of DNA Profiling in India have dismissed the questions relating
to collection, authentication of the samples as irrelevant. It is the duty of DNA examiners in India to
educate and relate DNA Profiling to Criminal Justice System without passing inconclusive remarks.
Recently the Indian Evidence (Amendment) Bill, 2003 has been proposed on the recommendation of the
185th Law Commission Report. The Bill provides for the DNA tests in paternity disputes. Scientific
evidence frequently plays a part in both civil and criminal trials and the scientific investigation of
evidence left at the crime scene can seem more persuasive to a Court than the testimony of
eyewitnesses. The Scientific and Technological proceeds in the process of identification of an individual
are of paramount importance predominantly in a forensic setup. Several techniques have been
developed for this purpose, simple example of which is fingerprints of an individual. One of the newest
forms of forensic evidence is DNA Profiling, which uses material from which chromosomes are made to
identify individuals positively. The use of DNA Evidence is anticipated to become a universal place in the
21st century. It is considered to be a major breakthrough in forensic science in this century. It has been
subjected to the most comprehensive, scientific examinations as no other twig of forensic science has
currently established itself as one of the best with mounting applications. It is now a well recognized
technique, which is not only used in numerous areas of research in modern molecular biology and
genetics but also finding prospective applications in our day to day life. DNA Profiling is based on the
principle that the genetic makeup in an individual is different from the others but is unique and
idiosyncratic to an individual. DNA profiling is the only definite, positive and permanent identification
method of a person as one's DNA never changes during one's lifetime. DNA testing takes advantage of
the fact that, with the exception of identical twins, the genetic material—-DNA--of each person is
unique. DNA evidence, like fingerprint evidence, offers prosecutors important tools for the identification
and apprehension of some of the most violent perpetrators. At the same time, DNA aids the search for
the truth by exonerating the innocent. DNA fingerprints are useful in several applications of human
health care research, as well as justice system. They are used to diagnose inherited disorders in both
prenatal and new born babies in hospitals around the world. Research programs to establish inherited
disorders on the chromosomes depend on the information contained in DNA fingerprints. They are also
used to link suspects to biological evidence. Another use of DNA Profiling in the court system is to
establish paternity in custody and child supporting litigation. Advances in technology are leading to
novel uses of DNA Profiling almost every day.

DNA

Deoxyribonucleic Acid or DNA is the fundamental building block of an individual's entire genetic
makeup. It is a component of virtually every cell in human body. It has the power to make definite
distinction between two persons, barring identical twins. A person's DNA is same in every cell. DNA is
basically a chain of small repeated sub-units found in the nuclei of all human cells except red blood cells
as well as in sub cellular structures known as mitochondria. The general structure of section of DNA is as
shown Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions for the
biological development of a cellular form of life or a virus. All known cellular life and some viruses have
DNAs. DNA is a long polymer of nucleotides (a polynucleotide) that encodes the sequence of amino acid
residues in proteins, using the genetic code.

INHERITENCE OF DNA

DNA is responsible for the genetic propagation of most inherited traits. In humans, these traits range
from hair color to disease susceptibility. The genetic information encoded by an organism's DNA is called
its genome. During cell division, DNA is replicated, and during reproduction is transmitted to offspring.
In eukaryotic cells, such as those of plants, animals, fungi and protists, most of the DNA is located in the
cell nucleus, and each DNA molecule is usually pocked into a chromosome that is passed to daughter
cells during cell division. By contrast, in simpler cells called prokaryotes, including the eubacteria and
archea, DNA is found directly in the cytoplasm (not separated by a nuclear envelope) and is circular. The
cellular organelles known ns chloroplasts and mitochondria also carry DNA. DNA is thought to have
originated approximately 3.5 to 4.6 billion years ago. In humans, the mother's mitochondrial DNA
together with 23 chromosomes from each parent combine to form the genome of a zygote, the
fertilized egg, As a result, with certain exceptions such as red blood cells, most human cells contain 23
pairs of chromosomes, together with mitochondrial DNA inherited from the mother. Lineage studies can
be done because mitochondrial DNA only comes from the mother, and the Y chromosome only comes
from the father. Although sometimes called "the molecule of heredity", DNA macromolecules as people
typically think of them are not single molecules. Rather, they are pairs of molecules, which entwine like
vines, in the shape of a double helix. DNA consists of a pair of molecules, organized as strands running
start-to-end and joined by hydrogen bonds along their lengths. Each strand is a chain of chemical
"building blocks", called nucleotides, of which there are four types: adenine (abbreviated A), cytosine
(C), guanine (G) and thymine (T). The DNA of some organisms, most notably of the PBS I phage, have
Uracil (U) instead of T. Each strand of DNA is a covalently linked chain of nucleotides, with alternating
sugar (deoxyribose)-phosphutes forming the "backbone" for the nucleobases ('basest'). The negatively-
charged phosphate groups between each deoxyribbse make DNA an acid in solution and allow DNA
molecules of different sizes to be separated by electhophoresis. Because DNA strands are composed of
these nucleotide subunits, they are polypners.
DNA SEQUENCE

DNA contains the genetic information that is inherited by the offspring of an organism. This information
is determined by the sequence of base pairs along its length. A strand of DNA contains genes, areas that
regulate genes and areas that either have no function, or a function yet unknown. Genes are the units of
heredity and can be loosely viewed as the organism's "cookbook" or "blueprint". DNA is often referred
to as the molecule of heredity. The technique of DNA Profiling has been acknowledged as the greatest
breakthrough in forensic science because of the sheer magnitude of its impact on science and law. In
United States, it is estimated that nearly of suspects are exonerated and not brought to trial in spite of
compelling evidence because of the supposedly decisive nature of DNA. The DNA technology is claimed
to be tremendous and as awareness about it spreads, detection and identification of persons could
increase greatly.

WHAT IS DNA PROFILING?

The process of testing to identify DNA patterns or types. In the forensic setting, this testing is used to
indicate parentage or to exclude or include individuals as possible sources of body fluid stains (blood,
saliva, semen) and other biological evidence (bones, teeth, hair). Genetic fingerprinting, DNA testing and
DNA profiling are techniques used to distinguish between individuals of the same species using only
samples of their DNA. Its invention by Sir Alec Jeffreys at the University of Leicester was announced in
1985. DNA Profiling is perhaps one of the most reliable and conclusive methods of personal
identification available to today's scientists. The aim of DNA analysis is to comparatively analyze genetic
information found in human biological material. The discovery that DNA structure is as unique to an
individual as a fingerprint has been an invaluable one to the field of forensic science and has enabled
individualization by the analysis of a whole array of biological materials. Deoxyribonucleic acid, or DNA,
provides the vital information for genetic inheritance by forming an immense sequence of codes made
up from four very simple base units. These four base units, known as nucleotides, string together to
form a DNA strand millions of bases long. Within the four nucleotides there are two complementary
base pairs that will only align with each other. Thus, the nucleotides comprising the single DNA strand
each bind with their complementary base to form a double stranded structure. DNA profiling is a
process which begins when a minute sample of genetic material—DNA (deoxyribonucleic acid)—is taken
from human tissue and ends when the sample is given a computerized numeric value in the form of a
'bar code'. Comparing a person's DNA profile with a DNA sample retrieved from the scene of a crime can
eliminate innocent people, but can also provide a strong indication of guilt.

HOW DNA PROFILING IS DONE?

Of the 3.3 billion base pairs that make up the human blueprint, approximately 3 million differ between
any two individuals. It is this difference that DNA testing relies on to distinguish one individual from
another. DNA is found in almost every cell of human being, therefore traces of blood, hair, semen etc at
crime scenes are all sources of DNA. In DNA Profiling process firstly, the DNA is isolated from cells or
tissues of the body in which the amounts of DNA found at the root of one hair is sufficient. After
chemically extracting the intact DNA from the sample restriction enzymes are used to cut DNA at
specific places. The DNA pieces are then stored out according to size by sieving technique called
electromorphos is in an aga rose gel. The DNA fragments are blotted from the gel into a nylon
membrane. This process is known as Southern Blotting. The DNA is then transferred to a membrane;
pockets may interfere with the transfer and obscure the results. The membrane containing the DNA is
then immersed in a liquid containing radioactive DNA Radioactive DNA probes bind to their structural
complements and the radioactive marker of the probe makes the probe bound fragment "light up”
allowing easy identification of its position. After washing away excess probe, the membrane is placed
against x-ray film and on processing, black bands appear where probes had bound themselves to the
fragment; this image is called and autoradiograph. Duration of the exposure of the film can have a
significant effect on the X-ray pattern. The suspect’s autoradiograph is compared to the one created by
the reference sample obtained from the victim or the crime scene.

If the profiles match, the significance of the match must be assessed through a match probability and
not in terms of straight forward "yes" or "no" answer. Where the samples are inadequate and the
quality is poor, the technique has been found to be less satisfactory. Therefore, a new technology was
developed to replicate the inadequate sample, by synthesizing new DNA from existing one to obtain
sufficient quantities for analysis. This is called Polymerase Chain Reaction (PCR) and the testing PCR is
known PCR-STR (Short Tandem Repent). It can produce quick, valuable results with degraded specimens.
In India this technique is in its infancy. Centre for DNA Fingerprinting and Diagnostics (CDFD), Andhra
Pradesh Forensic Science Laboratory (APFSL), Centre for Cellular and Molecular Biology (CCMB), Rajiv
Gandhi Centre for Biotechnology (RGCB) are major institutes where DNA fingerprinting is done.

DNA fingerprinting is useful for identification of persons in cases of rape, exchange of babies, paternity
disputes, immigration, assassination, bombings, infanticide etc. DNA can be used not only to determine
culprit, but also to identify victims. DNA testing is equally useful in eliminating suspects. It is also used in
distinguishing copycat crimes, crimes from serial crimes; samples from multiple crime scenes can be
tested to determine whether more than one person is involved.

SOME FREQUENTLY ASKED QUESTIONS ABOUT DNA PROFILING

1. What are the benefits of DNA profiling?-

The experience acquired by countries already using DNA profiling in their crime investigations shows
that there are several important advantages to be gained:

• rapid and absolute elimination of innocent, suspects;


• rapid identification of offenders with a very high degree of certainty,
• reliability of evidence produced in court;
• better administration of justice;
• increased public confidence in the criminal justice system;
• a deterrent effect on offenders with a concomitant decrease in crime;
• Cost-effectiveness in terms of investigation time saved.
2. What are the principles of DNA profiling?

The principle on which DNA profiling is based is relatively straightforward: a series of molecular biology
techniques is used to determine the sizes of discrete DNA fragments that contain hyper variable target
sequences. Because molecular biology is a new discipline with technical possibilities that are still
expanding, it is hardly surprising that a variety of ‘standard' techniques are used at each step in DNA
profiling. The analysis principles, however, remain constant. They include:

• collecting samples from the scene of a crime and from Victims and suspects;
• extracting and purifying DNA from all the samples;
• cutting the DNA into fragments (with a 'restriction enzyme');
• visualizing the fragments;
• Analyzing the resulting bank patterns by computer.

DNA profiling is a complicated process. As already mentioned, each sequential step involved in
generating a DNA profile can be carried out in a variety of ways. Although they are all straightforward,
and factors affecting them have been documented, each step is performed differently in different
laboratories. Much of this variation is of little account, but in the present unregulated climate there
remains a very real potential for generating a variety of anomalies.

3. Are there any probable defense challenges to DNA profiling?-

Yes, the investigating officers and prosecutors using DNA profiling should be aware of several areas
where the defense could challenge evidence successfully. The main points that could be raised are:

• possible contamination of samples which could lead to a different interpretation of results or


their invalidation;
• Comparison with an inadequate population sample size as the basis for the probability
calculations; improper sample handling or the unreliability of laboratory procedures.

4. Are there any efforts towards the standardization and internationalization of DNA profiling world-
wide?

Yes, it is essential that standards be established and rules on accreditation and auditing applied at both
national and international levels. Only if there is one will there is a possibility to exchange data
internationally. Europe seems to be a very active region from this point of view. The European DNA
Profiling Group (EDNAP) was set up in 1988 and it has made considerable progress. The aim of this
informal group is to facilitate the exchange of compatible DNA profiling data in order to allow European
countries to make the best possible use of the opportunities provided by this technique. The European
co-operation in this topic was reinforced and formalized by the involvement of the European Union
(EU). Within this framework, there is a Working group on Police Co-operation, which deals also with
DNA related topics. The society of forensic scientists is represented by the European Network of
Forensic Science Institutes (ENFSI) Working Group on DNA Profiling.
5. INTERPOL also involved in these activities?-

Yes, of course. The 25th Regional Conference (Warsaw, 29-31 May 1996) endorsed the revised European
Business Plan, in which promoting good practice in the use of DNA profiling as an investigative
technique is one of the main priorities. In order to implement this task, the INTERPOL European
Committee decided at its 15th Meeting on 5 November 1996 to set up the INTERPOL European Working
Party on DNA profiling. The Final Report of the Interpol European Working Party on DNA profiling (new
name now: DNA MEG) has been discussed by the 67th General Assembly Session in Cairo. The working
group was advised to profit from the experience of other countries in the field of DNA use in criminal
investigations in order to get a global harmonization. In this respect it was agreed to invite
representatives from all continents to join the DNA MEG.

6. What is the INTERPOL DNA profile Monitoring Expert Group (DNA MEG) about and what are its tasks?

The INTERPOL DNA MEG discusses the use of DNA profiling as an investigative technique and will make
recommendations concerning the use of DNA in criminal investigations with a view to facilitating the
worldwide use of this technique. The objective of the group is to act as an international point of
reference facilitating the utilization future development of DNA techniques. The recommendations will
address following areas: Investigation of crimes and incidents Establishing protocols for the application
of DNA Data basing Facilitate training Other tasks are Providing assistance and support to developing
countries acting as a catalyst for the expansion of DNA applications Widening co-operation with law
enforcement agencies, international leading societies and institutions dealing with or working on DNA
profiling Getting a global overview about the trends in the sphere of DNA profiling Organization of DNA
related conferences and working meetings.

Following Interpol member states are represented in the DNA MEG:

Argentina, Australia, Austria, Belgium, France, Norway, South Africa, Spain, United Kingdom and the
USA. The DNA MEG takes into consideration the work already done in this field by other for a dealing
with or working on DNA profiling. The current members representing following international or national
working groups before the DNA MEG:

EVIDENCE EXAMINATION

Deoxyribonucleic acid (DNA) is analyzed in body fluids, stains, and other biological tissues recovered
from evidence. The results of DNA analysis of questioned biological samples are compared with the
results of DNA of known samples. This analysis can associate victim(s) and/or suspect(s) with each other
or with a crime scene.

• Blood Examinations
• Collecting Known Samples
• Blood
• Saliva
• Documenting, Collecting, Packaging, and Preserving DNA Evidence
• Submitting DNA Evidence
• Blood on a Person
• Blood on Surfaces or in Snow or Water
• Bloodstains
• Blood Examination Request Letter
• Semen and Semen Stains
• Seminal Evidence From Sexual Assault Victim(s)
• Saliva and Urine
• Hair
• Tissues, Bones, and Teeth
• Blood Examinations

Examinations can determine the presence or absence of blood in stains. Examinations can also
determine whether blood is human or non-human and can determine the animal species. Blood
examinations cannot determine the age or the race of a person. Conventional serological techniques are
not adequately informative to positively identify a person as the source of a stain:

Collecting Known Samples

Blood: Only qualified medical personnel should collect blood samples from a person. Collect at least two
5-ml tubes of blood in purple-top tubes with EDTA as an anticoagulant for DNA analysis. Collect drug or
alcohol testing samples in gray-top tubes with Na F (sodium fluoride). ldentify each tube with the date,
time, subject's name, location, collector's name, case number, and evidence number. Refrigerate, do not
freeze blood samples. Use cold packs, not dry ice during shipping. Pack liquid blood tubes individually in
Styrofoam or cylindrical tube containers with absorbent material surrounding the tubes. Label the outer
container KEEP IN A COOL DRY PLACE, REFRIGERATE UPON ARRIVAL, and BIOHAZARD. Submit to the
Laboratory as soon as possible. Saliva use clean cotton swabs to collect saliva samples. Rub the inside
surfaces of the cheeks and gums thoroughly. Air dry the swabs and place in clean paper or an envelope
with sealed corners. Do not use plastic containers. Identify each sample with the date, time, subject's
name, location, collector's name, case number, and evidence number. Saliva samples do not need to be
refrigerated. Submit to the Laboratory as soon as possible.

Documenting, Collecting, Packaging, and Preserving DNA Evidence

If DNA evidence is not properly documented, collected, packaged, and preserved it will not meet the
legal and scientific requirements for admissibility in a court of law. If DNA evidence is not properly
documented, its origin can be questioned. If it is not properly collected, biological activity can be lost. If
it is not properly packaged, contamination can occur. If it is properly preserved, decomposition and
deterioration can occur. When DNA evidence is transferred by direct or secondary (indirect) means, it
remains surfaces by absorption or adherence. In general, liquid biological evidence is absorbed into
surfaces, and solid biological evidence adheres to surfaces. Collecting, packaging, and preserving DNA
evidence depends on the liquid or solid state and the condition of the evidence. The more that evidence
retains its original integrity until it reaches the laboratory, the greater the possibility of conducting
useful examinations. It may be necessary to use a variety of techniques to collect suspected body fluid
evidence.

Submitting DNA Evidence

Blood on a Person-Absorb suspected liquid blood onto a clean cotton cloth or swab. Leave a portion of
the cloth or swab unstained as a control. Air dry the cloth or swab and pack in clean paper or an
envelope with sealed corners. Do not use plastic containers. Absorb suspected dried blood onto a clean
cotton cloth or swab moistened with distilled water. Leave a portion of the cloth or swab unstained as a
control. Air dry the cloth or swab and pack in clean paper or an envelope with sealed corners. Do not
use plastic containers.

Blood on Surfaces or in Snow or Water-Absorb suspected liquid blood or blood clots onto a clean cotton
cloth or swab. Leave a portion of the cloth or swab unstained as a control. Air dry the cloth or swab and
pack in clean paper or an envelope with sealed corners. Do not use plastic containers. Collect suspected
blood in snow or water immediately to avoid further dilution. Eliminate as much snow as possible. Place
in a clean airtight container. Freeze the evidence and submit as soon as possible to the Laboratory.

Bloodstains-Air dry wet bloodstained garments. Wrap dried bloodstained garments in clean paper. Do
not place wet or dried garments in plastic or airtight containers. Place all debris or residue from the
garments in clean paper or an envelope with sealed corners. Air dry small suspected wet bloodstained
objects and submit the objects to the Laboratory. Preserve bloodstain patterns. Avoid creating
additional stain patterns during drying and packaging. Pack to prevent stain removal by abrasive action
or packaging materials during shipping. Pack in clean paper. Do not use plastic containers. When
possible, cut a large sample of suspected bloodstains from immovable objects with a clean sharp
instrument. Collect an unstained control sample. Pack to prevent stain removal by abrasive action or
packaging materials during shipping. Pack in clean paper. Do not use plastic containers. Absorb
suspected dried bloodstains on immovable objects onto a clean cotton cloth or swab moistened with
distilled water. Leave a portion of the cloth or swab unstained as a control. Air dry the cloth or swab and
pack in clean paper or an envelope with sealed corners. Do not use plastic containers.

Blood Examination Request Letter-A blood examination request letter should contain the following
information: A brief statement of facts relating to the case. Claims made by the suspect(s) regarding the
source of the blood. Whether animal blood is present. Whether the stains were laundered or diluted
with other body fluids. Information regarding the victim(s)’ and suspect(s)’ health, such as AIDS,
hepatitis, or tuberculosis.

Semen and Semen Stains-Absorb suspected liquid semen onto a clean cotton cloth or swab. Leave a
portion of the cloth or swab unstained as a control. Air dry the cloth or swab and pack in clean paper or
an envelope with sealed corners. Do not use plastic containers. Submit small suspected dry semen -
stained objects to the Laboratory. Pack to prevent stain removal by abrasive action or packaging
materials during shipping. Pack in clean paper. Do not use plastic containers. When possible, cut a large
sample of suspected semen stains from immovable objects with a clean sharp instrument. Collect an
unstained control sample. Pack to prevent stain removal by abrasive action or packaging materials
during shipping. Pack in clean paper. Do not use plastic containers. Absorb suspected dried semen stains
on immovable objects onto a clean cotton cloth or swab moistened with distilled water. Leave a portion
of the cloth or swab unstained as a control. Air dry the swab or cloth and place in clean paper or an
envelope with sealed corners. Do not use plastic containers.

Seminal Evidence From Sexual Assault Victim(s)- Sexual assault victim(s) should be medically examined
in a hospital or a physician's office using a standard sexual assault evidence kit to collect vaginal, oral,
and anal evidence. Refrigerate and submit the evidence as soon as possible to the Laboratory.

Saliva and Urine-Absorb suspected liquid saliva or urine onto a clean cotton cloth or swab. Leave a
portion of the cloth unstained as a control. Air dry the cloth or swab and pack in clean paper or an
envelope with sealed corners. Do not use Plastic containers. Submit suspected small, dry saliva or urine-
stained objects to the Laboratory. Pack to prevent stain removal by abrasive action or packaging
materials during shipping. Pack in clean paper or an envelope with sealed corners. Do not use plastic
containers. When possible, cut a large sample of suspected saliva or urine stains from immovable
objects with a clean sharp instrument. Collect an unstained control sample. Pack to prevent stain
removal by abrasive action or packaging materials during shipping. Pack in clean paper. Do not use
plastic containers. Pick up cigarette butts with gloved hands or clean forceps. Do not submit ashes. Air
dry and place the cigarette butts from the same location (ashtray) in clean paper or an envelope with
sealed corners. Do not submit the ashtray unless latent print examination is requested. Package the
ashtray separately. Do not use plastic containers. Pick up chewing gum with gloved hands or clean
forceps. Air dry and place in clean paper or an envelope with sealed corners. Do not use plastic
containers. Pick up envelopes and stamps with gloved hands or clean forceps and place in a clean
envelope. Do not use plastic containers.

Hair- Pick up hair carefully with clean forceps to prevent damaging the root tissue. Air dry hair mixed
with suspected body fluids. Package each group of hair separately in clean paper or an envelope with
sealed corners. Do not use plastic containers. Refrigerate and submit as soon as possible to the
Laboratory.

Tissues, Bones, and Teeth-Call the Laboratory prior to submitting suspected tissues, bones, or teeth to
ensure that the evidence will be accepted by the Laboratory. The communication accompanying the
evidence must reference the telephone conversation accepting the evidence. Pick up suspected tissues,
bones, and teeth with gloved hands or clean forceps. Collect 1-2 cubic inches of red skeletal muscle.
Collect 3-5 inches of long bone such as the fibula or femur. Collect teeth in the following order:

• no restored molar
• no restored premolar
• no restored canine
• no restored front tooth
• restored molar
• restored premolar
• restored canine
• restored front tooth

Place tissue samples in a clean, airtight plastic container without formalin or formaldehyde. Place teeth
and bone samples in clean paper or an envelope with sealed corners. Freeze the evidence, place in
Styrofoam containers, and ship overnight on dry ice.

HISTORICAL DEVELOPMENTS

In 17th century English Botanist Dr. Nehemiah Grew, fellow of the college of Physicians and of the Royal
Society, was the first person to document his findings about the ridges on the hands in his paper
published in 1684. This for 150 years was the primary source of identification of individuals. But later it
was found that even fingerprints can be altered by surgery. Also the problem with the fingerprints is
that the two individuals can have the same fingerprints although the chances are very low. Karl Land
Steiner, who was given a noble prize in 1930 for dividing blood into four distinct groups, and this also,
formed the basis for identification of an individual. Today more than 100 different factors of human
blood are known which may vary in different individuals. Thus there had been clearly a need of another
marker which is conclusive in exclusion so as to minimize the high increase in the error rate in wrongful
convictions and acquittals. This need was fulfilled by Alec Jeffrey by which individual specific
polymorphism can be detected. DNA profiling was developed in 1985 by Alec Jeffrey and his colleagues
at Leicester University (England) who named the process for isolating and reading DNA markers as "DNA
Fingerprinting".

Forensic use of DNA technology in criminal cases began in 1986 when police asked Dr. Alec J. Jeffrey to
verify a suspect's confession that he was responsible for two rape murders in the English Mid lands.
Tests proved that the suspect had not committed the crimes. Police then began obtaining blood samples
from several thousand male inhabitants in the area to identify new suspect.

In 1987 case in England, Robert Melias became the first person convicted of a crime (rape) on the basis
of DNA evidence. In one of the uses of DNA in criminal case in the United States, in November 1987, the
Circuit Court in Orange Country, Florida, convicted Tommy Lee Andrews of rape after DNA tests
matched his DNA from a blood sample with that of semen traces found in a rape victim.

Two other important early cases involving DNA testing are state v. Woodall and Spencer v.
Commonwealth. In Woodall, the West Virginia Supreme Court was the first State High Court to rule on
the admissibility of the DNA evidence. The Court accepted the DNA testing by the defendant, but
inconclusive results failed to exculpate Woodall. The Court upheld defendant's conviction for rape,
kidnapping and robbery of two Women. Subsequent DNA testing determined that Woodall was
innocent, and he released from prison.

The multiple murder trials in Virginia of Timothy Wilson Spencer were the first cases of United States
where the admission of DNA evidence led to guilty verdicts resulting in a death penalty. The Virginia
Supreme Court upheld the murder and rape convictions of Spencer, who had been convicted on the
basis of DNA testing with that of semen found in several victims.

HISTORY OF DNA PROFILING IN VICTORIA

RFLP-DNA Profiling was first introduced into Victorian casework in 1989 and was used either by itself or
in conjunction with PCR until 1994. Using this method the variation is detected using 'probes' which
recognize only specific variations in the DNA sequence. The millions of copies of the DNA produced by
the PCR reaction are washed over a membrane to which the various probes are bound. The probes only
attach to the copies of DNA containing a particular DNA sequence. A colour reaction is used to detect
the presence of copies of DNA bound to the probes on the membrane.

DIS80- D1S80, which is a PCR based VNTR system, was introduced for casework in 1993. The difference
in types in this system is based on length variation. The core subunit, which was repeated, is 14-16 base
pairs in length. It is the number of repeats of this subunit which determines an individual’s type.

Short Tandem Repeat (STR) systems- In 1994, the first of the STR systems were introduced for casework.
HUMTH01 was the first used, followed by FES and vWA. The STR systems have several advantages over
the VNTR systems; the main ones they have a higher probability of producing a result if the DNA is
damaged and they can be combined in a multiplexing system. An example of damaged DNA is the DNA
in a crime scene sample which has started to deteriorate before it was collected. This can occur due to
the action of bacteria, heat or other adverse environmental conditions.

Semi-Automated DNA profiling- In 1995, the ABI-Sequencer or 'Genes can' was introduced for casework.
This machine semi-automates the profiling of the STR systems (FES, vWA, HtrMTH01 and others). The
DNA molecules produced in the PCR reaction are labeled with a fluorescent dye. The 'Genes can'
machine determines what type the DNA molecule is at the different loci by detecting the movement of
the fluorescence through the gel using a laser. To perform the PCR reaction for a number of different
loci in the one test tube, each loci being marked with a different colored dye. This is referred to as
multiplexing. The sample containing the copied DNA from all the loci is placed on the 'Genes can' and
the types of a sample at all the DNA loci are determined by the machine recognizing the different dyes
as different loci. The introduction of the 'Genes can' system and multiplexing means that many samples
can be run at the one time and that a DNA profile with typing at many different loci can be obtained for
the majority of sample with just one gel run.

DNA profiling at present-At present, a system that allows us to amplify and type 9 STR loci in casework is
used. It also allows the sex of a particular sample to be indicated using an area of DNA amelogenenin.
The use of so many loci increases the probability that two individuals will be distinguished, i.e. the more
systems, the greater the evidential value.

Trace DNA-A recent development discovered in Victoria is that a DNA profile can be from objects
touched by skin, providing a powerful new tool for crime scene investigation. However, the high
sensitivity of this method means that extra caution must be taken when exhibits are handled. If a
particular exhibit is handled by a number of people the DNA profiling results indicate a mixture;
interpretation is not always straightforward.

What do the DNA profiling results mean for a case?

DNA profiling does not claim to be absolute identification, but may be very strong evidence, and
generally forms just one part of a case. It is really a question of looking at all the evidence in the case
such as; that who had the opportunity to commit the crime, eye-witness descriptions, fingerprints, the
transfer of glass fragments, paint flakes or fibers linking a person to a crime and the DNA profiling
results. DNA profiling is presented to the court as in the example above and the jury or magistrate can
draw their own conclusions, as they do about all the evidence. DNA profiling can be a very powerful
investigative tool. Of the cases out so far, approximately fifty percent of the profiling results have
established that the suspect was not the source of the sample associated with the crime---i.e. he/she
was excluded as being the perpetrator of the crime.

Costs- it costs approximately $300 per sample to conduct DNA profiling. This cost covers consumables
(test tubes, chemicals, etc.), overheads (electricity, heating, etc.) and the scientist’s salary.

Time and procedure

It takes approximately two weeks to obtain a full DNA profile from such as blood or semen. Usually
many samples are analyzed at one time. However, prior to DNA profiling commencing, the case must
first be processed. It must be submitted, prioritized and the individual articles must be examined by a
scientist. This examination may include, depending on the circumstances of the case, analysis of hairs
and fibers, identification of body fluids and analysis of blood stain patterns. DNA profiling may be just
one component of the case. When the laboratory work is completed a 'Statement' suitable for
presentation in Courts of Law is written. All the work on the case then undergoes a rigorous checking
procedure before it is authorized as being completed. All of these processes add to the time involved in
obtaining a profile from an individual sample. There is a lot more involved than just the extraction and
profiling of the DNA. Other factors such as casework backlog, staff levels, etc. must also be taken into
consideration.

Checks and balances for civil liberties

A person may voluntarily provide a sample for testing, or the Magistrates Court may issue an order
directing that a sample be taken under the Crimes (Amendment) Act, 1997. This would only be done if
stringent conditions are met, some of which are that;

1. there are reasonable grounds to' believe that the person has committed the offence,
2. material reasonably believed to be from the offender,
3. the taking of the sample would tend to confirm or disprove his or her involvement in the crime.

Samples are destroyed, together with any information identifying the person;
a) if the person is charged but not convicted—within 1 month after the conclusion of the
proceedings and the end of any appeal period, or
b) if the person is not charged—within 12 months, unless application is made to a magistrate or
Children's Court for an extension.

Biological implications of DNA profiling

The process of DNA profiling has no biological implications or effect on the genetic make-up of either
the population or the individual. It is a biological tool which reveals the genetic profile of an individual to
determine whether or not he/she may be the source of biological material from a crime scene i.e. it may
exclude or include an individual. DNA profiling is also commonly in use for paternity testing, usually to
determine fatherhood of a child when this is disputed.

IMPORTANCE OF DNA

Long before the discovery of DNA, mankind knew of a phenomenon that allowed certain traits to be
passed on from parents to offspring. For thousands of years, those involved in animal husbandry
explored this concept by mating animals specifically for the production of quality offspring with
distinctive traits. However, the science behind the heredity of these traits would not be known until the
early 20th century. In 1865, Gregor Mendel discovered that inherited traits are determined by discrete
units, or 'genes,' that are passed on from the parents. Mendel's work was largely ignored at the time,
and it wasn't until the turn of the 20th century that three European scientists independently confirmed
Mendel's results and began to uncover the laws of inheritance. Due to its simplistic sequence, DNA was
at first deemed unqualified to be the code for all living things. However, in 1944, Oswald Avery and his
colleagues, working in the New York Rockefeller Research Institute, classified DNA as the 'transforming
principle' and determined that DNA is the carrier of genes. Identifying DNA as the code of life was a
remarkable discovery However, uncovering the structure of DNA would prove to be the key to
understanding the role it plays in the formation of life. While working at King's College in London in
1952, crystallographer Rosalind Franklin produced X-ray diffraction images of DNA that revealed its
helical shape'. One of Franklin's photos, 'Photo 51' as it was famously named, led to the discovery of the
double helix by James Watson and Francis Crick in 1953. Photo 51 proved to be a driving force behind
one of the greatest discoveries in the history of science. Since the 1950s, the science of genetics has
advanced at an impressive speed, always building upon those critical first steps of discovery made by
Franklin, Avery, Morgan, Mendel and so many others. In 1985, a meeting was held at the University of
California at Santa Cruz to discuss the possibility of sequencing the human genome. Proposals were
introduced for a global Human Genome Project and 10 years later, full-scale decoding began with a
target completion date of 2005. However in the year 2000, a full five years ahead of schedule, the first
draft of the human genome was completed.

WHAT IS THE IMPORTANCE OF DNA PROFILING IN FORENSIC SCIENCE?

DNA typing has been called the most important discovery in forensic science since fingerprints. It has
revolutionized the analysis of body fluids left behind at crime scenes or found on subjects clothing.
Around the same time fingerprints were first being classified and used in criminal cases in the US,
around 1900, a man named Karl Landsteiner discovered that human blood could be grouped into
different types, which eventually became A, B, AB and O. For 70 years, this was the only to differentiate
a blood sample left at a crime scene, etc. Unfortunately, the discrimination rate was low; two random
blood samples could be differentiated about 30% of the time using this system. In the mid 1970's, new
technology allowed for the analysis of serum proteins by electrophoresis resulting in an improvement in
the discrimination power, which now approached 90%.

In the mid 1980's, a man named Alec Jeffries from England discovered that there were areas on DNA
which were highly polymorphic (many forms) and people could be distinguished from each other to the
point of uniqueness. With today's technology, DNA typing using short tandem repeats (STRs) and
capillary electrophoresis allows forensic scientists to analyze blood and other body fluids quickly and
definitively. Throughout the years, DNA typing has allowed for the freeing of many innocent people,
jailed for crimes they did not commit.

DNA PATERNITY TESTING

What is DNA Paternity Testing?

DNA Patenity Testing is the most advanced and accurate method available for resolving parentage for
medical, legal, or personal reasons. With advanced DNA technology, paternity testing is accurate, rapid
and affordable with a power of discrimination (or accuracy) of 99.99%. DNA Paternity Testing can
confirm:

• Who is, or is not the biological father?


• Who are the biological parents of the abandoned baby?
• Who are the biological parents of the adopted child?

What is required for the test?

Blood samples are normally used for testing. However, buccal swabs could also be used. Samples from
the child (children) mother and alleged father(s) are required. They must be properly collected, packed
and preserved and submitted with all the relevant documents so that they will meet the legal and
scientific requirements for admissibility in a court of law, if necessary Paternity can also be accurately
determined in the absence of the mother, by testing the child and alleged father. A DNA paternity test
can be performed individuals of any age. Results are usually available within 10 working days.

Confidentiality of test results

All analysis is carried out in a secure environment where client details and documents are treated as
confidential. Due to our strict reporting policy, results will not be provided over the telephone / fax. The
full report will only be made available to the person(s) requesting the test.

What are the costs involved?

The cost of DNA analysis is:


• RM 1,500 for two blood samples
• RM 200 for each additional sample

The above costs are subject to change. Please confirm the exact costs with the laboratory. Testing will
only commence once the DNA laboratory has received all the samples and full payment. All payments
should be by crossed cheque, bank draft or cashier's order

Other related DNA Tests

Maternity Testing DNA testing can conclusively answer questions relating to maternity Grandparent age
Testing. Determines whether a person is the true grandparent of a child Sibling Relationship Testing
Determines whether or not brothers/sisters are sibling Body Identification confirms the sex and identity
of an unidentified body.

Procedures for Submission of Samples for Paternity/Maternity Testing by DNA Profiling at the
Department of Chemistry

As the analysis is only carried out in the DNA Analysis Unit, the blood samples must be properly
collected, packed and preserved and submitted with all the relevant documents so that they will meet
the legal and scientific requirements for admissibility in a court of law, if necessary. Paternity tests must
be requested in writing.

(a) A minimum of 2 ml of blood should be taken from each of the parties concerned i.e. the mother,
the child/children and the alleged father(s). The samples should be collected in EDTA specimen
tubes only which should then be sealed and clearly labeled with the identification name/number
and the date of collection.
(b) All samples collected should be kept at low temperature (40C). If samples are not to be
examined for several weeks, they should be frozen. Repeated freezing and thawing should be
avoided since this can reduce the amount of DNA which can be recovered.
(c) The samples should be sent via one of the courier agencies or hand carried so that chain of
custody can be traced.
(d) All samples submitted for analysis must be accompanied by the "Blood Collection Form" (one for
each donor).
(e) Upon completion of the analysis, three copies of a scientific report on the paternity relationship
determined by DNA testing will be provided in writing to person/agency requesting the test. For
security reasons, results are not available by telephone/fax. All remaining blood samples, if not
collected, will be disposed by the Department one month after the collection of the report.
(f) The processing time normally takes 5—10 days upon date of receipt of samples.

DISCOVERY, DEVELOPMENT, AND CURRENT APPLICATION OF DNA IDENTITY TESTING.

Genetic identity testing involves identifying the patterns of genetic material that are unique to almost
every individual. Although over 99% of the DNA sequences in the human genome are identical between
individuals, a small number of sequence differences are used to distinguish all humans. Those different
sequences are usually targeted for identity testing. The techniques that are applied in identity testing
are DNA fingerprinting, DNA profiling, and DNA typing. Although there are some technical differences
between these tests, the terms have been used interchangeably.

DISCOVERY OF THE DNA FINGERPRINT

Historically, identity testing in the forensic field started with the analysis of the ABO blood group system.
Later, new markers for identity and paternity identification were based on variations of serum proteins
and red blood cell enzymes; eventually the human leukocyte antigen system was used. It was not until
20 years ago that Sir Alec Jeffreys, professor and geneticist at the University of Leicester in the United
Kingdom (UR) pioneered DNA-based identity testing. Professor Jeffreys was interested in studying the
genetic variation between individuals and had done some of the early work to detect genetic differences
in humans. However, the answer did not come to him on the initial project he was interested in but
rather on an unrelated project: analysis of the myoglobin gene in seal meat at the headquarters of the
British Antarctic Survey. When he and his colleagues compared the myoglobin gene in seals with the
human counterpart, they found that some short repeating sequences were homologous between seals
and humans. When they compared those sequences with the published sequences of tandem repeats
called minisatellites, they found that they were the same. Professor Jeffreys recognized that the
repeating sequences "could be highly variable, informative genetic markers". His group developed a
radioactive probe, made up of short sequences, that could latch onto those repeating sequences and
ultimately reveal patterns that were unique to each individual: a DNA "fingerprint". The steps involved
in DNA fingerprinting are as follows. First, the DNA is extracted from the specimen (i.e., blood, semen,
skin, hair). After DNA extraction, restriction enzymes are added, which work like scissors to cut the DNA
into the smaller segments that are different between individuals. The DNA segments are sorted by
agarose gel electrophoresis and visualized by staining with ethidium bromide. A Southern blot is
performed to transfer the DNA onto a membrane. A radioactive probe is applied to the membrane, and
the pattern of DNA is detected by exposing the membrane to x-ray film. The result is a pattern of DNA
bands that looks like a supermarker bar code. Each individual has a signature fingerprint. Professor
Jeffreys looked at a DNA fingerprint of a human family; he also looked at the fingerprint of a cow, a
baboon, a mouse, and a tobacco plant. The pattern of DNA segments, composed of perhaps 15 to 20
bands, was different for each one. However, closer inspection of the patterns of the human family
revealed that the mother and the father each had their own pattern and that the child had a composite
of both, having inherited an allele from the father and the mother.

In the spring of 1985, Professor Jeffreys and his colleagues published their first "article on DNA
fingerprinting and saw the utility of it in the forensic sciences and in paternity identification.
Newspapers publicized the findings, and shortly thereafter a lawyer became interested in test and saw
its applicability in one of the cases she was representing.

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