"It has not escaped our notice that the more we learn about the human genome, the

more there is
to explore." Human genome which is stored on 23 chromosome pairs. 22 of these are autosomal
chromosome pairs, while the remaining pair is sex-determining. The haploid human genome occupies a
total of just over 3 billion DNA base pairs. The 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 molecules.

Started from Mendal's law in 1886 with the basics and from Watson and Crick's discovery of
the double helical structure of DNA now it has come to much deeper and more formal way forming the
Genome human project in 1990 coordinated by the US development of Energy and the national
institute of health. It was planned for last 15 years but technological advancement make it little shorter
to last 13 years till 2003. The goal was set to

• Identify aprroximately 20000-25000 genes in human DNA

• Determine the sequence
• Store information
• improve tools
• transfer related technology to private sector
• address the ethical, legal and social issue
 The HGP has revealed that there are probably about 20,500 human genes. The completed
human sequence can now identify their locations. This ultimate product of the HGP has given the world
a resource of detailed information about the structure, organization and function of the complete set of
human genes. This information can be thought of as the basic set of inheritable "instructions" for the
development and function of a human being.
The International Human Genome Sequencing Consortium published the first draft of the
human genome in the journal Nature in February 2001 with the sequence of the entire genome's three
billion base pairs some 90 percent complete. A startling finding of this first draft was that the number of
human genes appeared to be significantly fewer than previous estimates, which ranged from 50,000
genes to as many as 140,000.The full sequence was completed and published in April 2003.
Upon publication of the majority of the genome in February 2001, Francis Collins, the director
of NHGRI, noted that the genome could be thought of in terms of a book with multiple uses: "It's a
history book - a narrative of the journey of our species through time. It's a shop manual, with an
incredibly detailed blueprint for building every human cell. And it's a transformative textbook of
medicine, with insights that will give health care providers immense new powers to treat, prevent and
cure disease."
The tools created through the HGP also continue to inform efforts to characterize the entire
genomes of several other organisms used extensively in biological research, such as mice, fruit flies
and flatworms. These efforts support each other, because most organisms have many similar, or
"homologous," genes with similar functions. Therefore, the identification of the sequence or function of
a gene in a model organism, for example, the roundworm C. elegans, has the potential to explain a
homologous gene in human beings, or in one of the other model organisms. These ambitious goals
required and will continue to demand a variety of new technologies that have made it possible to
relatively rapidly construct a first draft of the human genome and to continue to refine that draft. These
techniques include:
• DNA Sequencing
• The Employment of Restriction Fragment-Length Polymorphisms (RFLP)
• Yeast Artificial Chromosomes (YAC)
• Bacterial Artificial Chromosomes (BAC)
• The Polymerase Chain Reaction (PCR)
• Electrophoresis

How does the complete human genome sequence affect the way that we think about ourselves?
Clearly, the availability of a reference human DNA sequence is a milestone toward understanding how
humans have evolved, because it opens the door to large-scale comparative studies. The major impact
of such studies will be to reveal just how similar humans are to each other and to other species.

The first comparisons will be between the human genome and distantly related genomes such as
those of yeast, flies, worms, and mice. A glimpse of what this will show us comes from considering the
fact that about 26,000 to 38,000 genes are found in the draft version of our own genome, a number that
is only two to three times larger than the 13,600 genes in the fruit fly genome. Furthermore, some 10%
of human genes are clearly related to particular genes in the fly and the worm. So, obviously, we share
much of our genetic scaffold even with very distant relatives. The similarity between humans and other
animals will become even more evident when genome sequences from organisms such as the mouse,
with whom we share a more recent common ancestor, become available. For these species, both the
number of genes and the general structure of the genome are likely to be very similar to ours. Although
this has long been realized by insiders in the genetics community, the close similarity of our genome to
those of other organisms will make the unity of life more obvious to everyone. No doubt the genomic
view of our place in nature will be both a source of humility and a blow to the idea of human
uniqueness.

However, the most obvious challenge to the notion of human uniqueness is likely to come from
comparisons of genomes of closely related species. We already know that the overall DNA sequence
similarity between humans and chimpanzees is about 99% (3). When the chimpanzee genome sequence
becomes available, we are sure to find that its gene content and organization are very similar (if not
identical) to our own. Perhaps it is our subconscious discomfort with this expectation that explains the
slowness with which the genomics community has embraced the idea of a chimpanzee genome project.
Be that as it may, with most of the human genome sequence now complete, it will be easy to determine
the chimpanzee sequence using the human sequence as a guide to assembly. The result is sure to be an
even more powerful challenge to the notion of human uniqueness than the comparison of the human
genome to those of other mammals.

In view of the sad part that race and ethnicity still play in most societies, concerns that genetic
analysis of different human populations could be abused are appropriate. Fortunately, from the few
studies of nuclear DNA sequences, it is clear that what is called “race,” although culturally important,
reflects just a few continuous traits determined by a tiny fraction of our genes. This tiny fraction gives
no indication of variations at other parts of our genome. Thus, from the perspective of nuclear genes, it
is often the case that two persons from the same part of the world who look superficially alike are less
related to each other than they are to persons from other parts of the world who may look very different
(see the figure bellow). Although small segments of the genome—such as mitochondrial DNA and Y
chromosomal DNA (which are inherited in an unusual way) or the few genes that encode visible traits
(which may have been selected for)—show a pattern where the genes in a particular human population
can be traced back to a single common ancestor, this is not the case for the vast majority of our genes.
Indeed, one way in which we humans seem to differ from apes is that we have evolved with very little
subdivision. This is surely because we are a young species (in evolutionary terms) and have a greater
tendency for migration than many other mammals. I suspect, therefore, that genome-wide studies of
genetic variation among human populations may not be so easy to abuse—in terms of using data as
“scientific support” for racism or other forms of bigotry—as is currently feared. If anything, such
studies will have the opposite effect because prejudice, oppression, and racism feed on ignorance.
Knowledge of the genome should foster compassion, not only because our gene pool is extremely
mixed, but also because a more comprehensive understanding of how our genotype relates to our
phenotype will demonstrate that everyone carries at least some deleterious alleles. Consequently,
stigmatizing any particular group of individuals on the basis of ethnicity or carrier status for certain
alleles will be revealed as absurd.
 From a medical standpoint, improved predictive capabilities provided by the identification of
disease-associated alleles harbor great potential benefits but also problems. The benefits will come
from using individualized risk assessment to modify the environmental and behavioral components of
common diseases. Relatively minor measures implemented early in life may prove to be extremely
effective in postponing or even preventing the onset of disease. But individualized risk assessment may
come at the price of “genetic hypochondria,” causing many to spend their lives waiting for a disease
that may never arrive. Finally, increased medical predictive power obviously represents a societal
challenge in terms of medical insurance, especially in countries that, unlike most Western European
countries, are not blessed with health insurance systems that share risks in an equitable fashion among
the whole population. Legislators in such countries would be wise to act now to counteract future
temptations to “personalize” insurance risks. Later on, once powerful genetic diagnostic tests are in
place, it will be hard to withstand pressure from the insurance lobby to prevent such legislation.
As we enter a genomic era in medicine and biology, perhaps the greatest danger I see stems
from the enormous emphasis placed on the human genome by the media. The successes of medical
genetics and genomics during the last decade have resulted in a sharp shift toward an almost
completely genetic view of ourselves. I find it striking that 10 years ago, a geneticist had to defend the
idea that not only the environment but also genes shape human development. Today, one feels
compelled to stress that there is a large environmental component to common diseases, behavior, and
personality traits! There is an insidious tendency to look to our genes for most aspects of our
“humanness,” and to forget that the genome is but an internal scaffold for our existence.
In brief we can find that molecular medicine gives us opportunity to
• Improved Diagnosis
• Earlier Detection of diseases
• Drug design
• Gene therapy
•
Some quote about the HPG

“I believe that the Human Genome project is an extremely fascinating thing. Just the wild
thoughts and dreams of the positive, and radically helpful differences that can be had by such research
is astounding. The only question that I harbor is this: In the inevitable future, when the world has gone
this far, what is the likelihood that we could see bio-engineered people. Certain, select individuals that
are born for a discrete purpose i.e. to be the best player ever (in his/her respective sport), to be the next
president/prime minister/dictator of a major, etc. Will this be a possible future? Or are the only boons
hopefully on the more positive side of finding cures for all of our ailments? Which will raise my final
question of how long we should extend our lives and what that rippling effect could have on the world.
--Thank you for your time. I know these are serious questions and you don't have to answer them
directly, but I am merely curious as to whether or not we are aware of the possibilities and
responsibilities as well as ramifications of all that is said or done in regards to this important research
area.” Sean W. (February 2, 2011, 21:55)

“Thanks to NHGRI people because these material is very useful to learn about The Human
Genome, thus, I will enhance my proposal to a goverment scholarship to study national doctoral
program in computer science, with focus in bioinformatics.” Carlos Fernando Castaneda Olano (June
12, 2010, 20:08)

The HGP researchers make the point that their information is a launch pad for new discoveries,
not an end in itself. They stress that there must be a realistic acceptance of the timescale of likely
developments, and an involvement by society as a whole as to how the new knowledge is applied.
"The Human Genome Project is only the latest step in a remarkable scientific programme whose
origins stretch back a hundred years to the discovery of Mendel's laws and whose end is nowhere in
sight. In a sense, it provides a capstone for efforts in the past century to discover genetic information
and a foundation for efforts in the coming century to understand it."
The scientific work will have profound long-term consequences for medicine, leading to the
elucidation of the underlying molecular mechanisms of diseases and thereby facilitating the design in
many cases of rational diagnostics and therapeutics targeted at those mechanisms.
But the science is only part of the challenge. We must also involve society at large in the work
ahead. We must set realistic expectations that the most important benefits will not be reaped overnight.
Moreover, understanding and wisdom will be required to ensure that these benefits are implemented
broadly and equitably.