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DNAshort for Deoxyribonucleic Acidis the instruction manual for how to build

life from microbes to plants to human beings. It defines us all.


The complete set of instructions, encoded in an organisms DNA is called its genome
and is passed from parent to offspring during reproduction.
Information is stored in DNA, using just four types of molecules which
occur in pairs. There are billions of these pairs organized in a doublehelixstructure that is both strong and compact. These pairs also allow each strand
to act as a backup for the othera remarkably efficient way to safeguard this
precious genetic information.
DNA folds into paired packages called chromosomes that are stored in the
nucleus of the cell. Different species have different numbers of chromosomes.
Humans have 23 pairs. [The 23rd pair determines whether a person is
male or female.]
Chromosomes contain many genes. A gene is a section of DNA that holds the
instructions for a protein. Proteins are essential for life and perform a huge
variety of jobsfrom controlling the function of a single cell to determining the
shape of the whole organism.
Within a species, each organism has very similar DNA. In human beings, the
difference between one person and another is a fraction of one percentbut its what
makes us individuals, giving us different facial features, hair color and height. The
uniqueness of our DNA can be used like a fingerprint to identify us with an
extraordinary degree of accuracy.
By reading DNA, scientists have discovered that we share sequences not just with
our own species but with every other living thing on earth. Chimpanzees, one of our
closest living relatives, share about 96% of our DNA. But ... we also have genes in
common with fish, plants and bacteriapowerful evidence that all life came from a
single universal ancestor many, many years ago.
We havent just learned how to read the instruction manual for life, we can rewrite it
as well. People have been manipulating DNA since before we knew it existed,
selectively breeding plants and animals to bring out desirable traits.

Now, genetic engineering allows us to directly alter DNA in the lab, creating
new varieties of lifefrom plants that can resist disease, or drought, to bacteria that
can mass-produce life-saving hormones.
But ... we dont yet know what all of DNA does. Lengthy sequences make no proteins
at all and have, perhaps mistakenly, been labeled junk.
Some people are worried about these gaps in our knowledge and unforeseen
problems they believe genetically modified organisms may cause.
Whats clear is that the instruction manual for life is more subtle, elegant and
complex than we could have possibly imagined.
DNA has revealed many of its secrets, but we still have much to learn.

Deoxyribonucleic acid or DNA is a molecule that contains the instructions an


organism needs to develop, live and reproduce. These instructions are found
inside every cell, and are passed down from parents to their children.

DNA structure
DNA is made up of molecules called nucleotides. Each nucleotide contains a
phosphate group, a sugar group and a nitrogen base. The four types of nitrogen
bases are adenine (A), thymine (T), guanine (G) and cytosine (C). The order of
these bases is what determines DNA's instructions, or genetic code. Similar to
the way the order of letters in the alphabet can be used to form a word, the
order of nitrogen bases in a DNA sequence forms genes, which in the language
of the cell, tells cells how to make proteins. Another type of nucleic acid,
ribonucleic acid, or RNA, transmits genetic information from DNA into proteins.
The entire human genome contains about3 billion bases and about 20,000
genes.
Nucleotides are attached together to form two long strands that spiral to create
a structure called a double helix. If you think of the double helix structure as a
ladder, the phosphate and sugar molecules would be the sides, while the bases

would be the rungs. The bases on one strand pair with the bases on another
strand: adenine pairs with thymine, and guanine pairs with cytosine.
they can't fit into cells without the right packaging. To fit inside cells, DNA is
coiled tightly to form structures we call chromosomes. Each chromosome
contains a single DNA molecule. Humans have 23 pairs of chromosomes, which
are found inside the cell's nucleus.

DNA discovery
DNA was first observed by a German biochemist named Frederich Miescher in
1869. But for many years, researchers did not realize the importance of this
molecule. It was not until 1953 that James Watson, Francis Crick, Maurice
Wilkins and Rosalind Franklin figured out the structure of DNA a double helix
which they realized could carry biological information. Watson, Crick and
Wilkins were awarded theNobel Prize in Medicine in 1962 "for their discoveries
concerning the molecular structure of nucleic acids and its significance for
information transfer in living material." [Related: Unraveling the Human
Genome: 6 Molecular Milestones]

DNA sequencing
DNA sequencing is technology that allows researchers to determine the order of
bases in a DNA sequence. The technology can be used to determine the order
of bases in genes, chromosomes, or an entire genome. In 2000, researchers
completed the first full sequence of the human genome.

DNA testing
Your DNA contains information about your heritage, and can sometimes reveal
whether you're at risk for certain diseases. DNA tests, or genetic tests, are used
for a variety of reasons, including to diagnose genetic disorders, to determine
whether a person is a carrier of a genetic mutation that they could pass on to
their children, and to examine whether a person is at risk for a genetic disease.
For instance, mutations in the BRCA1 and BRCA2 genes are known to increase
the risk of breast and ovarian cancer, and analysis of these genes in a genetic
test can reveal whether a person has these mutations.
Genetic test results can have implications for a person's health, and the tests
are often provided along with genetic counseling to help individuals understand
the results and consequences of the test.

It has been argued that the discovery of DNA as well as our understanding of its
structure and functioning may well be the most important discovery of the last
century. The effect of the discovery of DNA on scientific and medical progress
has been enormous, whether it involves the identification of our genes that
trigger major diseases or the creation and manufacture of drugs to treat these
devastating diseases. In fact, the identification of these genes and their
subsequent analysis in terms of therapeutic treatment has ultimately influenced
science and will continue to do so in the future.

Disease Diagnosis and Treatment


One important area of DNA research is that of genetics and medical research. Due to
our discovery of DNA, our ability to actually diagnose diseases early on has been
vastly improved. In addition, we have been able to better assess a person's genetic
susceptibility to specific diseases. In doing so, we have also paved the pathway to
formulate brand new drugs to treat these diseases. In fact, drugs can essentially be
custom made to complement a person's personal biochemistry and genetic makeup.
For those diseases that were previously considered lethal and where treatment was
either non-existent or largely unsuccessful, the discovery of DNA has essentially led to
breakthrough drugs and treatments for patients with serious illnesses.

Paternity and Legal Impact


While the discovery of DNA has perhaps impacted medicine the most, its contribution
to other areas is still similarly significant. Paternity cases have an enormous impact on
families and children around the world. Through the assessment of DNA, the paternity
of a child can be identified, which has a significant effect on the child's upbringing and
his or her life.

Forensics and DNA


DNA has been notably important to the field of forensic science. The discovery of DNA
has meant that the guilt or innocence of a person who is investigated for a crime can
be determined. It also means that scarce evidence can still yield vital clues regarding
the perpetrator of a crime. Also important is that the identification of victims can occur,
particularly in cases where the victim's condition is unrecognisable to family or friends.
In this sense, DNA has been important in revolutionising the entire field of forensic
science. This impact is felt within the criminal justice system and contributes to the
accurate safeguarding of society.

Agriculture and DNA


The impact of DNA on agriculture has been a very important one because it has
allowed breeders to facilitate the breeding of animals that have a better resistance to
diseases. It also allows farmers to produce more nutritious produce, which has
particularly important consequences in developing countries where the population

subsists on a small range of staple foods that have little variety. This means that
micronutrient deficiencies can be addressed in these countries.

DNA Importance Continues


While the discovery of DNA has been a significant one in the twentieth century, it will
continue to revolutionise medicine, agriculture, forensics, paternity and many other
important fields in society today. DNA research encompasses an evolving area of
progress and continued funding and interest in its relevance will likely fuel new
discoveries in the future.

Restriction Fragment Length Polymorphisms (RFLP) Method of DNA Profiling

Restriction Fragment Length Polymorphisms (RFLP) is a technique wherein genomic


DNA is treated with one or more restriction enzymes which cut the DNA whenever
certain specific sequence of bases occurs (each restriction enzyme will cut in a
unique restriction site); thus generating a number of fragments of the DNA of varying
lengths. In some individuals, random changes in the DNA will cause one or more sites
to be lost or may otherwise cause variation between individuals in these fragment
lengths. If the DNA is placed on a gel, and an electric field applied, the differing sized
fragments will move at varying distances across the gel. The DNA can then be rendered
visible by a variety of methods, yielding a pattern of bands, sometimes described as
similar to a supermarket bar code (5). It is relatively easy to determine that two samples
are different, if one has a band that the other lacks, but it is far more difficult to
determine, on the basis of identical banding patterns, that two samples must have come
from the same individual.
Forensic Science and DNA evidence

DNA fingerprinting was first used in forensic science in 1986 when police in the UK
requested Dr. Alec J. Jeffreys, of University of Leicester, to verify a suspects
confession that he was responsible for two rape-murders. Tests proved that the suspect
had not committed the crimes.
The first person to be convicted on the basis of DNA evidence in the UK was Robert
Melias in 1987 (9,10). In the same year in the US, Tommy Lee Andrews was convicted
in a rape case based on DNA evidence (9), in which his DNA profile was matched with
that of semen traces recovered from the victim. Two other important early cases gave
much impetus to the use of DNA evidence: They were, the case of Glen Dale Woodal
versus the State of West Virginia in 1992 and the multiple murder trial of Timothy
Wilson Spencer versus the state of Virginia in 1994. The DNA evidence in the Woodal
case exonerated him while that of the Spencer case resulted in his conviction and
sentencing to the death penalty.

Admissibility of DNA evidence was seriously challenged for the first time in a case in
the New York Supreme Court in 1989. Jose Castro was accused of murdering one Vimla
Pence and her two year old daughter. Although a blood stain on Castros watch was
matched to the victim, this evidence per se was not instrumental to his conviction. He
was convicted after admitting to the crime. In this case, the DNA tests conducted by
Life Code Corporation did not include a specific test for human blood and also did not
include blind testing protocols in the attempt to link the stain to the victims.
Furthermore, the laboratory in the above case had used contaminated probes and did not
provide the worksheets and other manuscripts relating to the testing. Hence the court
issued many directive guidelines regarding the test procedures and maintenance of
laboratory results and reports as well as explanations for probability calculations and
recording of observed defects or laboratory errors. The need to identify and document
chain of custody and allowing access to data, methodology and actual results for an
independent expert to review were also instructed.
In another case in 1989, the Supreme Court of Minnesota had also refused to admit the
DNA evidence analyzed by a private forensic laboratory. The court noted that the
laboratory did not comply with appropriate standards and controls. In particular the
court castigated the laboratory for failure to reveal its underlying population data and
testing methods. Such secrecy precluded replication of the test.
Thus, courts have denounced improper application of DNA scientific techniques to
particular cases, especially when used to declare matches based on frequency estimates.
However, DNA testing when properly applied is generally accepted as admissible and
currently in many countries, DNA evidence is routinely used as evidence. As stated in
the US National Research Councils (NRC) 1996 report (10) on DNA evidence, The
state of the profiling technology and the methods for estimating frequencies and related
statistics have progressed to the point where the admissibility of properly collected and
analyzed DNA data should not be in doubt(11,12,13).

DNA is the chemical code that is found in every cell of an individual's body,
and is unique to each individual. Because it is unique, the ability to examine
DNA found at a crime scene is a very useful forensic tool. In New Zealand,
two main techniques are used to profile (i.e. identify and describe) DNA.
Restriction fragment length polymorphism (RFLP) In RFLP, the DNA is cut
into segments of varying lengths by an enzyme, then the segments
separated out on the basis of size using a technique called electrophoresis.
Fragments of a particular length are transfered to a nylon membrane. They
are matched up with radioactively labelled fragments of DNA in such a way
that only fragments that are identical stick together. The excess radioactive
fragments are washed away and an x-ray of the remaining fragments taken.

This gives a picture of which of the labelled fragments were in the original
sample. Short tandem repeat profiling (STR) An enzyme is used to make
many copies of a small section of the DNA. This section cut into pieces by
another enzyme, and separated by electrophoresis. The fragments are then
visuallised with a silver stain, with the pattern of light and dark bands seen
being characteristic for an individual
Restriction fragment length polymorphism (RFLP) This technique is outlined
in Figure 2. Double stranded DNA is extracted from blood or semen. The
DNA is cut into small pieces by a sequence-specific enzyme, i.e. an enzyme
that cuts the DNA wherever a particular sequence of bases occurs. The
fragments are then separated out by a process called electrophoresis: the
sample is put at one end of a bath of a jelly-like substance called agarose
gel and a voltage is applied. The fragments are charged, and the voltage is
applied in such a way as to encourage the fragments to migrate to the other
end of the gel. Small fragments move much faster than large ones, so
separation on the basis of molecular weight occurs. After electrophoresis the
gel and fragments are exposed to 0.25M HCl to depurinate the DNA and nick
the sugar phosphate backbone, as this assists in fragment transfer. The
depurinated sites are then cleaved by washing in NaOH/NaCl. The denatured
DNA is then transferred to a nylon membrane and the variable minisatellite
region of the DNA examined by 32Pradiolabelled short pieces of single
stranded DNA called probes. A probe binds to its complementary sequence
on the membrane. The radiolabelled membrane is exposed to film to
produce an autoradiograph. Successive regions of the DNA are examined.
The distribution of each of the probed regions XII-Biotech-D-DNA Profiling-4
of DNA within the population is estimated from a population database to
give an indication of the probability that the sample comes from a given
suspect.

Fake DNA evidence[edit]


In one case, a criminal even planted fake DNA evidence in his own body: John
Schneeberger raped one of his sedated patients in 1992 and left semen on her underwear.
Police drew what they believed to be Schneeberger's blood and compared its DNA against
the crime scene 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.
The functional analysis of genes and their coding sequences (open reading frames [ORFs])
typically requires that each ORF be expressed, the encoded protein purified, antibodies
produced, phenotypes examined, intracellular localization determined, and interactions with
other proteins sought.[20] 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. Nucleix claims they can also prove the difference between non-altered DNA and
any that was synthesized.[21]
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 Franceamong 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.

Sources of DNA Evidence


The biological material used to determine a DNA profile
include blood, semen, saliva, urine, feces, hair, teeth, bone,
tissue and cells.

Samples that May be Used


Investigators collect items that could have been touched or
worn by persons involved in a crime. The following items may
contain DNA material:

Masks

Hats

Gloves

Clothing

Tools

Weapons

Sexual assault evidence kits

Underclothes

Bedding

Dirty laundry

Fingernail scrapings

Cups/bottles

Cigarettes

Toothpicks

Toothbrush

Facial tissue

Hairbrush

Eyeglasses

Condoms

Tape

Ligatures (rope, wire, cords)

Stamps or envelopes
The best evidence occurs when a persons DNA is found
where it is not supposed to be. For example, consider a
breaking-and-entering that occurred in a residential area.
Near the point of forced entry, a knit cap was found which the
homeowners confirm was not theirs. Several head hairs were
recovered from the inside, one of which had a root with tissue
attached, which made it possible to obtain a DNA profile. The
DNA profile was used to identify the perpetrator.
As technology advances, forensic scientists are able to
analyze smaller and smaller biological samples to develop a
DNA profile. For example, if a person touched an object or
weapon, skin cells may have been left behind. This low-level
DNA is sometimes referred to as touch DNA. It can even be
collected from a victims skin or bruises where they were
handled roughly. Low-level DNA samples may be helpful when
examining evidence where it would be difficult to retrieve
fingerprintssuch as textured surfaces on gun handles or

automobile dashboards. However, not all jurisdictions have


the capability to process this evidence.
To compare the victims or suspects DNA profile to the
recovered crime-scene DNA, the laboratory will need to have
their known biological samples available for a side-by-side
comparison. These known samples are calledreference
samples. In some jurisdictions, a DNA sample is routinely
taken from an arrestee during the process of booking and
fingerprinting. However, this is an evolving area of law and
states vary in their laws governing the collection of DNA from
arrestees. Sometimes a court order is required to retrieve a
reference from a person of interest. Reference samples are
always collected from victims unless they choose not to
cooperate with the investigation; in that case, a court order
might be required.
In addition to unknown and reference samples, elimination
samples are often collected from consensual sex partners
and others, such as first responders, crime scene personnel
and analysts working the case so they can be excluded from
the investigation.
It is important that biological evidence be properly collected
and preserved as it can easily degrade when exposed to heat
or humidity. Storing evidence in cool environments is
preferred; however, research has shown that room
temperature conditions are suitable for storing dried stains as
long as the humidity is controlled. Liquid samples should be
transported in refrigerated or insulated containers.