organized into DNA molecules—
nucleotides, which serve as the
alphabet for the language of life, are represented by just four
letters: A, C, G, and T, corresponding to adenine, cytosine, guanine,
and thymine. The nucleotide alphabet codes for the sequence of
amino acids the body will use to build proteins.
Combinations of three nucleotides indicate one of twenty
possible amino acids (for example, CCT codes for the amino acid
glycine), so sets of nucleotide triplets form the instructions that cells
use to build proteins. These proteins perform the work of the cells
from development throughout life, contributing to both our physical
attributes and many of our less tangible features, such as behavior,
learning, and predisposition to disease. A segment of a DNA
molecule that codes for one complete protein is called a gene. The
human genome is carried on 23 different chromosomes—or DNA
Genomes of other species contain more or fewer nucleotides
and chromosomes but follow the same basic organizational scheme
as the human genome.
In order to study this Human Genome in detail a mega project
called “The Human Genome Project” was undertaken.
Human Genome Project, international scientific effort to map
all of the genes on the 23 pairs of human chromosomes and, to
The Human Genome Project involved laboratories in the
United States. and an inherited form of
breast cancer.000 genes. eliminating the remaining gaps in the genome map.000
human genes. Early in 2001 scientists from
both teams jointly announced the completion of the mapping of the
. a fruit fly. there may in fact be as many as 40.000 genes instead of the expected 100.000. It was
financed in the United States by the National Institutes of Health
and by the Department of Energy and in Great Britain by the
Wellcome Trust of London. Begun in 1990 with the goal of enabling scientists to
understand the basis of genetic diseases and to gain insight into
neurofibromatosis. more refined estimate based on
additional work on the genome was that there are between 20. In addition.
Further work continues on refining the sequencing of genes on
chromosomes. A comparable project using new DNAsequencing machines was begun as a private industry venture in
the United States in 1998. because of differences in the genes
identified by the teams. in order to study
genetic similarities among species. Subsequent comparison of the two teams'
data has indicated that. detailed analyses of all the pairs were published by
2006. scientists identified genes for cystic fibrosis. indicating that they had identified an estimated
30. A subsequent.coli. the project decoded the genome of the
bacterium E. Great Britain. with a stated goal of completing the
mapping of the genome in three years. France.000
and 25. and Japan. constituting just 1%
of the total human DNA. Germany. In the process. and ended in 2003 with
sequence the 3. and a nematode worm. Huntington's disease. the project was largely completed in 2000 when
85% of the human genome was decoded. and the genome of a mouse was
also decoded.1 billion DNA base pairs that make up the
assessments of nuclear medicine technologies.
The Human Genome Project traces its roots to an initiative in
developed a plan for a joint
HGP that officially began in
The NIH's National Centre for Biotechnology Information maintains
GenBank. Department of Energy.S.
Venter's genome was the first individual full diploid human genome. convinced that DOE’s missions would be well
served by a reference human genome sequence. In
2007 the first sequences of human individuals were released. DOE took a bold step in announcing its Human
Genome Initiative. for example. Department of Energy
and its predecessor agencies have been charged by Congress with
developing new energy resources and technologies and with
environmental risks posed by their production and use. Shortly thereafter.
. a database of publicly available genetic sequences from
the genomes of plants and animals. including some extinct species. Since 1945.3
and identifying the extent of variation in the human genome.
7 million nucleotide bases.
The functions are unknown for over 50 per cent of the
The mega project had several important goals which are as
Identify all the approximately 20.4
Some of the significant observations drawn from human genome
project are as follows:
Human genome contains 3164.25. dynamics and evolution.
Chromosome 1 has most genes (2968). This information promises to
revolutionise the processes of finding chromosomal locations
for disease-associated sequences and tracing human history.9 per cent) nucleotide bases are exactly the same in all
They are thought to have no direct coding functions.40.
Scientists have identified about 1.
The total number of genes is estimated at 30.4 million locations where
polymorphism) occur in humans.
with the largest known human gene being dystrophin at 2.
Less than 2 per cent of the genome codes for proteins.
An average gene consist of 3000 bases.000 genes in human
DNA. and the Y has the
Repetitive sequences are stretches of DNA sequences that are
repeated many times.000 genes. Almost
all (99. but sizes vary greatly.000 to 1.4
million bases. but they
shed light on chromosome structure.000–much lower
than previous estimates of 80.000 . sometimes hundred to thousand times.
Repeated sequences make up very large portion of the human
and later assigning different regions in
the sequence with functions.
Transfer related technologies to other sectors.
Address the ethical.
. and the identity of one of the bases in the pair
determines the other member of the pair.
Improve tools for data analysis. legal and social issues (ELSI) that may
arise from the project.000 base pairs.
SEQUENCING OF A GENOME
Sequencing means determining the exact order of the base
pairs in a segment of DNA.000.000 to 300.
The methods involved two major approaches:
One approach focused on identifying all the genes that
The other approach is blind approach of simply sequencing
the whole set of genome that contained all the coding and
non-coding sequence. Human chromosomes range in size from
Determine the sequences of the 3 billion chemical base pairs
that make up the human DNA.000.
Store this information in databases. Because the bases
exist as pairs. such as
industries. referred as Sequence Annotation.
WHOSE DNA WAS SEQUENCED FOR
THE HUMAN GENOME PROJECT?
This is intentionally not known to protect the volunteers who
provided DNA samples for sequencing. Candidates
were recruited from a
These sequences were then arranged
overlapping regions present in them. To ensure that the identities of
the volunteers cannot be revealed.
The fragments were sequenced
sequencers that worked on the principle of a method
developed by Frederick Sanger.6
Steps involved in the sequencing of a genome:
Isolation of total DNA from a cell and converted into random
fragments of relatively smaller size.
Cloning of DNA fragments can be performed by using cloning
vectors like BAC (Bacterial Artificial chromosomes) and YAC
(yeast artificial chromosomes).
The volunteers responded to local public advertisements near
the laboratories where the DNA libraries were prepared. The
. The sequence is derived
from the DNA of several volunteers. a careful process was developed
to recruit the volunteers and to collect and maintain the blood
samples that were the source of the DNA.
The human genome has at
least 10 million SNPs.
. SNPs are sites
in the human genome where individuals differ in their DNA
sequence. Researchers in public and private sectors are generating
maps of these sites. About 5 to 10 times as many volunteers donated blood as
were eventually used. diabetes.
and so on. vascular disease. so that not even the volunteers would know
whether their sample was used. Most of
these SNPs contribute to human
variation. and some forms of mental
illness. All labels were removed before the
actual samples were chosen.
Slight variations in our DNA sequences can have a major
impact on whether or not we develop a disease and on our
particular responses to such environmental insults as bacteria. They also impact our reactions to drugs and
other therapies. For example. and toxins. One of the most common types of sequence
variation is the single nucleotide polymorphism (SNP).7
consent. one person might
have the base A (adenine) where another might have C (cytosine). SNP maps provide valuable
pharmaceutical research. Scientists believe such SNP maps will help them
identify the multiple genes associated with such complex diseases
as cancer. which can occur in genes as well as in non
coding regions. often by a single base.
maps are a series of overlapping pieces of DNA isolated in bacteria. Mapping involves dividing the chromosomes into
fragments that can be propagated and characterized. and then
ordering them to correspond to their respective chromosomal
locations. or characterizing the chromosomes.
characteristics. susceptibility to certain drugs. or have more than one form among individuals so that
they can be detectable in studies.
Another marker is Variable Numbers of Tandem Repeats
(VNTR). To be useful in mapping.
To sequence the human genome.
This variability gives individuals unique VNTR regions. maps are needed. This is called a
physical map. or determining the order
of DNA bases on a chromosome. Markers
are any inherited physical or molecular characteristics that are
different among individuals of a population.8
diseases. VNTRs are
prevalent in human DNA and can exist in wide variance of numbers. The next step is sequencing. These are genetic maps. markers must be
The process of determining the human genome involves first
mapping. toxins and infectious
agents. which are small sections of repeating DNA. An example of a marker
includes restriction fragment length polymorphisms (RFLP). RFLPs
reflect sequence differences in DNA sites that can be cleaved by
restriction enzymes. This is the
application behind solving crime cases with blood samples.
Genetic markers are invaluable for genome mapping. A
resolution physical maps represent sets of DNA fragments that were
cut by restriction enzymes and placed in order.
enzymes are united with a vector and then
reproduced along with the vector's cell DNA. or increased in
unlimited amount of DNA for experimental
study. PCR is
. a task that would have taken days
with recombinant DNA technology.
Used in RFLP markers are restriction enzymes.
hundreds of millions of times in a matter of
PCRs. it must be first amplified. DNA can be cut into many different fragments.
Vectors normally used are viruses.9
genetic map shows the relative locations of these specific markers
on chromosomes. Low-resolution physical
maps include chromosomal or cytogenetic maps that are based on
chromosomes. Two types of DNA amplifications are:
Polymerase Chain Reactions (PCR)
Cloning involves the propagation of DNA fragments in a foreign
host known as recombinant DNA technology.
To sequence DNA.
Different types of physical maps exist. bacteria.
fragments are the DNA pieces used in physical maps. These enzymes
recognize short sequences of DNA and cut them at specific sites.
Since scientists have characterized hundreds of different restriction
sequencing can begin.
PCR is a process through
complementary strand of DNA to a separate given strand of DNA in
a mixture of DNA bases and DNA fragments. Even fragments that have only
diagnosis. easily automated.
Electrophoresis is the process of using gels with stained DNA and
then separating those DNA fragments according to size by the use
of electric current through the gel.10
valuable because the reaction is
and capable of amplifying very
small amounts of DNA. The
mixture is then cooled and through the action of the polymerase
Now that the DNA has been amplified. and evolutionary
forensic science. The result
is two double helix strands from one double helix strand. For these
Two basic approaches are:
Both methods are successful because gel electrophoresis can
heating and cooling cycles in PCR machines amplify the target DNA
separating the two strands in a double-stranded DNA molecule. The mixture is heated. the DNA fragments in the mixture find and bind to their
complementary sequences on the now separated strands. In less than 90 minutes. PCR cycles can amplify DNA
by a million fold.
stopping the replication at positions occupied by
one of the four bases. organ or tumor. and
To obtain a ‘blueprint’ – DNA directs all the instructions needed for
cell development and function. accurate. Specific focuses include developing sequencing and
detection schemes that are faster. The result is
different length fragments.
Sanger sequencing. A refinement to this method known as
multiplex sequencing enables scientists to analyze approximately 40
clones on a single DNA sequencing gel. also called chemical degradation
To study human variation.
DNA underlies almost every aspect of human health.000 bases
per day. more sensitive. also called the chain termination or dideoxy
method. and then determining the resulting fragment
A major goal of the HGP is to develop automated sequencing
technology that can accurately sequence more than 100. in
function and dysfunction.
To study how humans relate to other organisms. uses enzymes to synthesize DNA of varying length in four
one single different nucleotide can be separated. Almost all of the
steps in both of these sequences are now automated
Maxam-Gilbert sequencing. cleaves DNA at specific bases using chemicals.
To study gene expression in a specific tissue.
retinoblastoma. and risk
assessment. Well-publicized successes include the cloning of genes
responsible for Duchenne muscular dystrophy. susceptibility to certain diseases and drug metabolism
population differ at about 0.12
To find correlations how genome information relates to development
of cancer. Increasingly detailed genomic
maps have also aided researchers seeking genes associated with
fragile X syndrome. as well as diseases
and other traits that are common to man. and familial breast cancer. and neurofibromatosis. This knowledge would
lead to better medical management of these diseases and
pharmaceutical discovery. waste control and
environmental cleanup. Alzheimer's
disease.1%. biotechnology. energy sources.
If other disease-related genes are isolated. scientists can
begin to understand the structure and pathology of other disorders
such as heart disease. cancer. Understanding these differences
could lead to discovery of heritable diseases. Genetic screening will enable rapid and
specific diagnostic tests making it possible to treat countless
. medicine will look more into
the fundamental causes of diseases rather than concentrating
on treating symptoms. Information gained from
the HGP has already fuelled many positive discoveries in health
Through genetic research.
Current and potential applications of genome research will
address national needs in molecular medicine. types of inherited colon cancer. and diabetes.
important in improving the use of fossil-based resources.
and possible augmentation or replacement of defective genes
through gene therapy. Genomic
information can indicate the future likelihood of some
the gene responsible for
Huntington's disease is present.S. Sales of biotechnology
products are projected to exceed $20 billion by the year 2000. and
industry with a wealth of opportunities. six microbes
that live under extreme temperature and pressure conditions
have been sequenced.
industrial processing. By learning the unique protein
structure of these microbes. DNA-based tests clarify diagnosis quickly and
enable geneticists to detect carriers within families.
The potential for commercial development presents U. although predicting the exact
time may not be possible. it may be certain that
symptoms will eventually occur.
Medical researchers will be able to create therapeutic products
based on new classes of drugs. Resulting from that project.
Waste Control and Environmental Cleanup
Through advances gained by the HGP.
remediation. Other diseases where susceptibility
may be determined include heart disease. researchers may be able to use
the organisms and their enzymes for such practical purposes
as waste control and environmental cleanup. immunotherapy techniques.
formulated the Microbial Genome Initiative to sequence the
genomes of bacteria useful in the areas of energy production. strengthened
The HGP has stimulated significant investment by large
implications of HGP research.
Scientists know that genetic differences cause some people to
be more susceptible than others to such agents. Additional
understanding of biology. Having the genomic sequence of the methaneproducing
enormous impact on the ability to assess risks posed to
agents. and other commercially useful microorganisms. increased taxonomic understanding. Biotechnology will help address these needs by
providing a cleaner means for the bioconversion of raw
materials to refined products.
IMPLICATIONS ADDRESSED BY THE
HUMAN GENOME PROJECT
LEGAL. Additionally. will allow researchers to explore the process of
methanogenesis in more detail and could lead to cheaper
production of fuel-grade methane. there is the
possibility of developing entirely new biomass-based energy
example. especially in terms of cancer risk.
ETHICAL. but this knowledge will directly address the
Department of Energy's long-term mission to understand the
effects of low-level exposures to radiation and other energyrelated agents. More work
must be done to determine the genetic basis of such
increased development of pest-resistant and productive crops
Increased energy demands require strategies to circumvent
The ELSI program focused on the possible consequences of
genomic research in four main areas:
Privacy and fairness in the use of genetic information. Advancement in this research can bring up new
scope in the field of medicine. When the project began in 1990. A percentage of the Human Genome Project budget at
the National Institutes of Health and the U. including the process of informed
employment and insurance. policy makers. At the project's
conclusion in 2003. families. Department of Energy
was devoted to ELSI research.
The mission of the ELSI program was to identify and address issues
raised by genomic research that would affect individuals. fewer than 100
human disease genes had been identified.
students. and Social Implications (ELSI) program was
founded in 1990 as an integral part of the Human Genome Project.400.
The integration of new genetic technologies.
The education of healthcare professionals. and the public about genetics and the complex
issues that result from genomic research. into the practice of clinical medicine. the number of identified disease genes had
risen to more than 1.
The Human Genome Project is focused on the DNA sequence
of an individual.S. This project opened doors to a very
. such as genetic
Ethical issues surrounding the design and conduct of genetic
research with people.
Medical researchers did not wait to use data from the Human
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As this research continues many new possibilities open up in this
field of development. F. the data obtained from the human genome project
stands as a very promising field. A.16
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