1

INTRODUCTION
The
comprises

human
a

approximately
component
nucleotides,

genome

sequence
3
parts,
which

of

billion
called
are

organized into DNA molecules—
the

double

helix.

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.
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

Huntington's disease. there may in fact be as many as 40. eliminating the remaining gaps in the genome map. France. more refined estimate based on additional work on the genome was that there are between 20. Early in 2001 scientists from both teams jointly announced the completion of the mapping of the human genome. and Japan. Begun in 1990 with the goal of enabling scientists to understand the basis of genetic diseases and to gain insight into human evolution.000 and 25. A comparable project using new DNAsequencing machines was begun as a private industry venture in the United States in 1998. Great Britain.000 genes. Subsequent comparison of the two teams' data has indicated that. and a nematode worm. In addition. A subsequent. because of differences in the genes identified by the teams.000. and the genome of a mouse was also decoded. constituting just 1% of the total human DNA. with a stated goal of completing the mapping of the genome in three years. Further work continues on refining the sequencing of genes on chromosomes. In the process. the project was largely completed in 2000 when 85% of the human genome was decoded.000 genes instead of the expected 100. Germany. indicating that they had identified an estimated 30. neurofibromatosis. and ended in 2003 with 99% decoded. detailed analyses of all the pairs were published by 2006.coli. The Human Genome Project involved laboratories in the United States. scientists identified genes for cystic fibrosis. a fruit fly. in order to study genetic similarities among species. the project decoded the genome of the bacterium E.2 sequence the 3. . and an inherited form of breast cancer. 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.000 human genes.1 billion DNA base pairs that make up the chromosomes.

3 and identifying the extent of variation in the human genome. HISTORY The Human Genome Project traces its roots to an initiative in the U. Shortly thereafter. for example. Since 1945. DOE took a bold step in announcing its Human Genome Initiative. SIGNIFICANT FEATURES . Such studies have since provided the scientific basis for individual risk assessments of nuclear medicine technologies. In 1986. In 2007 the first sequences of human individuals were released. Venter's genome was the first individual full diploid human genome.S. Department of Energy and its predecessor agencies have been charged by Congress with developing new energy resources and technologies and with pursuing a deeper understanding of potential health and environmental risks posed by their production and use. Department of Energy. convinced that DOE’s missions would be well served by a reference human genome sequence. DOE and Institutes the of National Health developed a plan for a joint HGP that officially began in 1990. a database of publicly available genetic sequences from the genomes of plants and animals. The NIH's National Centre for Biotechnology Information maintains GenBank. including some extinct species.

The functions are unknown for over 50 per cent of the   discovered genes.40.000–much lower than previous estimates of 80.25.4 Some of the significant observations drawn from human genome project are as follows:  Human genome contains 3164.000 genes in human DNA. Scientists have identified about 1. Repetitive sequences are stretches of DNA sequences that are repeated many times.000 genes. and the Y has the  fewest (231). Almost all (99. but sizes vary greatly. dynamics and evolution. with the largest known human gene being dystrophin at 2. sometimes hundred to thousand times. An average gene consist of 3000 bases. They are thought to have no direct coding functions. .4  million bases. Less than 2 per cent of the genome codes for proteins. but they  shed light on chromosome structure. The total number of genes is estimated at 30. GOALS The mega project had several important goals which are as follows: Identify all the approximately 20.4 million locations where singlebase DNA differences (SNPs – single nucleotide polymorphism) occur in humans. Repeated sequences make up very large portion of the human  genome.000 .000 to 1.7 million nucleotide bases. This information promises to revolutionise the processes of finding chromosomal locations for disease-associated sequences and tracing human history. Chromosome 1 has most genes (2968).9 per cent) nucleotide bases are exactly the same in all  people.

000 to 300.000 base pairs. Store this information in databases.5  Determine the sequences of the 3 billion chemical base pairs    that make up the human DNA. and the identity of one of the bases in the pair determines the other member of the pair. Improve tools for data analysis.000. SEQUENCING OF A GENOME Sequencing means determining the exact order of the base pairs in a segment of DNA. The other approach is blind approach of simply sequencing the whole set of genome that contained all the coding and non-coding sequence. Because the bases exist as pairs. Transfer related technologies to other sectors.000. Address the ethical. such as  industries. referred as Sequence Annotation. . and later assigning different regions in the sequence with functions. Human chromosomes range in size from about 50. METHODOLOGIES The methods involved two major approaches: One approach focused on identifying all the genes that expressed  as RNA referred as Expressed Sequence Tags (ESTs). legal and social issues (ELSI) that may arise from the project.

The fragments were sequenced using automated DNA sequencers that worked on the principle of a method  developed by Frederick Sanger. The volunteers responded to local public advertisements near the laboratories where the DNA libraries were prepared.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. The sequence is derived from the DNA of several volunteers. Candidates were recruited from a diverse population. a careful process was developed to recruit the volunteers and to collect and maintain the blood samples that were the source of the DNA. Cloning of DNA fragments can be performed by using cloning vectors like BAC (Bacterial Artificial chromosomes) and YAC  (yeast artificial chromosomes). To ensure that the identities of the volunteers cannot be revealed. These sequences were then arranged based on some overlapping regions present in them. WHOSE DNA WAS SEQUENCED FOR THE HUMAN GENOME PROJECT? This is intentionally not known to protect the volunteers who provided DNA samples for sequencing. The volunteers blood provided samples after being extensively counselled and giving their then informed .

About 5 to 10 times as many volunteers donated blood as were eventually used. SNP maps provide valuable targets for biomedical and pharmaceutical research. SNPs are sites in the human genome where individuals differ in their DNA sequence. and so on. often by a single base. influence some of them development may of . Scientists believe such SNP maps will help them identify the multiple genes associated with such complex diseases as cancer. Most of these SNPs contribute to human variation. and some forms of mental illness. Researchers in public and private sectors are generating maps of these sites. SINGLE NUCLEOTIDE POLYMORPHISM 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. one person might have the base A (adenine) where another might have C (cytosine). viruses. They also impact our reactions to drugs and other therapies. which can occur in genes as well as in non coding regions. vascular disease. diabetes. For example. One of the most common types of sequence variation is the single nucleotide polymorphism (SNP). The human genome has at least 10 million SNPs.7 consent. so that not even the volunteers would know whether their sample was used. and toxins. All labels were removed before the actual samples were chosen.

and then ordering them to correspond to their respective chromosomal locations. or characterizing the chromosomes.8 diseases. or determining the order of DNA bases on a chromosome. Mapping involves dividing the chromosomes into fragments that can be propagated and characterized. Physical maps are used to describe the DNA's chemical characteristics. Genetic markers are invaluable for genome mapping. VNTRs are prevalent in human DNA and can exist in wide variance of numbers. Physical maps are a series of overlapping pieces of DNA isolated in bacteria. TECHNICAL ASPECTS The process of determining the human genome involves first mapping. This is called a physical map. maps are needed. Markers are any inherited physical or molecular characteristics that are different among individuals of a population. An example of a marker includes restriction fragment length polymorphisms (RFLP). The next step is sequencing. This is the application behind solving crime cases with blood samples. Another marker is Variable Numbers of Tandem Repeats (VNTR). susceptibility to certain drugs. RFLPs reflect sequence differences in DNA sites that can be cleaved by restriction enzymes. which are small sections of repeating DNA. To be useful in mapping. This variability gives individuals unique VNTR regions. or have more than one form among individuals so that they can be detectable in studies. These are genetic maps. markers must be polymorphic. A . toxins and infectious agents. Mapping Strategies To sequence the human genome.

and yeast cells. With PCRs. Two types of DNA amplifications are:  Cloning Polymerase Chain Reactions (PCR) Cloning involves the propagation of DNA fragments in a foreign host known as recombinant DNA technology. it must be first amplified. DNA fragments isolated from restriction enzymes are united with a vector and then reproduced along with the vector's cell DNA. Used in RFLP markers are restriction enzymes. High- resolution physical maps represent sets of DNA fragments that were cut by restriction enzymes and placed in order. Low-resolution physical maps include chromosomal or cytogenetic maps that are based on distinctive banding patterns of stained chromosomes.9 genetic map shows the relative locations of these specific markers on chromosomes. These fragments are the DNA pieces used in physical maps. PCR is . DNA can be amplified hundreds of millions of times in a matter of hours. These enzymes recognize short sequences of DNA and cut them at specific sites. Cloning provides an unlimited amount of DNA for experimental study. Since scientists have characterized hundreds of different restriction enzymes. Vectors normally used are viruses. or increased in quantity. a task that would have taken days with recombinant DNA technology. bacteria. Sequencing Strategies To sequence DNA. DNA can be cut into many different fragments. Different types of physical maps exist.

the DNA fragments in the mixture find and bind to their complementary sequences on the now separated strands. The result is two double helix strands from one double helix strand. Even fragments that have only . 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. forensic science. The mixture is heated. PCR impacts on genetic has clinical disease had major medicine. diagnosis. Two basic approaches are:  Maxam-Gilbert sequencing Sanger sequencing Both methods are successful because gel electrophoresis can produce high-resolution separations of DNA molecules. PCR cycles can amplify DNA by a million fold. and evolutionary biology. For these reasons. PCR is a process through which a specialized polymerase enzyme synthesizes a complementary strand of DNA to a separate given strand of DNA in a mixture of DNA bases and DNA fragments. separating the two strands in a double-stranded DNA molecule. The mixture is then cooled and through the action of the polymerase enzyme.10 valuable because the reaction is highly specific. and capable of amplifying very small amounts of DNA. In less than 90 minutes. Repeated heating and cooling cycles in PCR machines amplify the target DNA exponentially. sequencing can begin. Now that the DNA has been amplified. easily automated.

A major goal of the HGP is to develop automated sequencing technology that can accurately sequence more than 100. The result is different length fragments. WHY IS GENOME SEQUENCING IMPORTANT? Genome sequencing is important because of the below mentioned reasons: To obtain a ‘blueprint’ – DNA directs all the instructions needed for  cell development and function. stopping the replication at positions occupied by one of the four bases. uses enzymes to synthesize DNA of varying length in four different reactions.000 bases per day. 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 how humans relate to other organisms. A refinement to this method known as multiplex sequencing enables scientists to analyze approximately 40 clones on a single DNA sequencing gel. and then determining the resulting fragment lengths. more sensitive. organ or tumor. both. Specific focuses include developing sequencing and detection schemes that are faster. To study human variation. Sanger sequencing. .11 one single different nucleotide can be separated. also called chemical degradation method. accurate. also called the chain termination or dideoxy method. in    function and dysfunction. To study gene expression in a specific tissue. DNA underlies almost every aspect of human health. and economical.

Alzheimer's disease.  Molecular Medicine Through genetic research.1%. susceptibility to certain diseases and drug metabolism (pharmacogenomics) APPLICATIONS Scientists estimate that chromosomes in the human population differ at about 0. and neurofibromatosis. and risk assessment. If other disease-related genes are isolated. Well-publicized successes include the cloning of genes responsible for Duchenne muscular dystrophy. Increasingly detailed genomic maps have also aided researchers seeking genes associated with fragile X syndrome. Understanding these differences could lead to discovery of heritable diseases.12  To find correlations how genome information relates to development of cancer. cancer. types of inherited colon cancer. waste control and environmental cleanup. medicine will look more into the fundamental causes of diseases rather than concentrating on treating symptoms. Genetic screening will enable rapid and specific diagnostic tests making it possible to treat countless . cystic fibrosis. biotechnology. and familial breast cancer. This knowledge would lead to better medical management of these diseases and pharmaceutical discovery. Current and potential applications of genome research will address national needs in molecular medicine. as well as diseases and other traits that are common to man. energy sources. retinoblastoma. scientists can begin to understand the structure and pathology of other disorders such as heart disease. and diabetes. Information gained from the HGP has already fuelled many positive discoveries in health care.

The HGP has stimulated significant investment by large corporations development of hoping to capitalize on implications of HGP research. although predicting the exact time may not be possible. By learning the unique protein structure of these microbes. and industrial processing. As an example.S. Genomic information can indicate the future likelihood of some diseases. toxic waste reduction. cancer. Energy Sources Biotechnology. strengthened by the will biotechnology  and promoted companies the HGP. industry with a wealth of opportunities. immunotherapy techniques. Biotechnology The potential for commercial development presents U. DNA-based tests clarify diagnosis quickly and enable geneticists to detect carriers within families. and diabetes. if the gene responsible for Huntington's disease is present.13 maladies. it may be certain that symptoms will eventually occur. new the be important in improving the use of fossil-based resources. Sales of biotechnology products are projected to exceed $20 billion by the year 2000. . Resulting from that project. the DOE formulated the Microbial Genome Initiative to sequence the genomes of bacteria useful in the areas of energy production. Other diseases where susceptibility may be determined include heart disease. and possible augmentation or replacement of defective genes  through gene therapy. Waste Control and Environmental Cleanup Through advances gained by the HGP. Medical researchers will be able to create therapeutic products based on new classes of drugs. researchers may be able to use the organisms and their enzymes for such practical purposes  as waste control and environmental cleanup. environmental remediation. six microbes that live under extreme temperature and pressure conditions have been sequenced.

Additionally. LEGAL. increased development of pest-resistant and productive crops and livestock.  Risk Assessment Understanding the human genome will have an enormous impact on the ability to assess risks posed to individuals by environmental exposure to toxic agents. especially in terms of cancer risk. More work must be done to determine the genetic basis of such variability. for example. increased taxonomic understanding. and other commercially useful microorganisms. Having the genomic sequence of the methaneproducing microorganism Methanococcus jannaschii. Scientists know that genetic differences cause some people to be more susceptible than others to such agents. there is the possibility of developing entirely new biomass-based energy sources. 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. Biotechnology will help address these needs by providing a cleaner means for the bioconversion of raw materials to refined products. Additional positive spin-offs from this research include a better understanding of biology. ETHICAL.14 Increased energy demands require strategies to circumvent the many problems with today's dominant energy technologies. AND SOCIAL IMPLICATIONS ADDRESSED BY THE HUMAN GENOME PROJECT . will allow researchers to explore the process of methanogenesis in more detail and could lead to cheaper production of fuel-grade methane.

Legal. students. When the project began in 1990. The integration of new genetic technologies. families. fewer than 100 human disease genes had been identified. Advancement in this research can bring up new scope in the field of medicine. including the potential for genetic discrimination in  employment and insurance.S. Ethical issues surrounding the design and conduct of genetic research with people. into the practice of clinical medicine. The education of healthcare professionals.15 The Ethical.400. The Human Genome Project is focused on the DNA sequence of an individual. This project opened doors to a very . At the project's conclusion in 2003. and Social Implications (ELSI) program was founded in 1990 as an integral part of the Human Genome Project. CONCLUSION Medical researchers did not wait to use data from the Human Genome Project. the number of identified disease genes had risen to more than 1. policy makers. such as genetic  testing. A percentage of the Human Genome Project budget at the National Institutes of Health and the U. and the public about genetics and the complex issues that result from genomic research. Department of Energy was devoted to ELSI research. The ELSI program focused on the possible consequences of genomic research in four main areas:  Privacy and fairness in the use of genetic information. including the process of informed  consent. and society. The mission of the ELSI program was to identify and address issues raised by genomic research that would affect individuals.

Hall.S. sequencing. Gesteland. A. Junkins. Jordan. R. A. A. H. E. Copyright© 2014. National Library Of Medicine®  Web: Http://Ghr. N. Ferry (2003) And J.. A Service Of The U. REFERENCES  Studies By J. Shreeve (2004). The Catholic University Of America. P. Sulston And G.. P. A Catalog Of Published Genome-Wide Association . Walters. L. L.Nlm. A. Science. T.  Proquest. 2008 Genetics Home Reference. New Goals for The U. which can lead to the cure of many genetic disorders which are caused due to abnormal coding. S. 1998.16 viable phenomenon.. 6th Ed. Human  Genome Project: 1998-2003. 282:682-689 Human Genome Project Discoveries: Dialectics And Rhetoric In The Science Of Genetics. Patrinos. A. As this research continues many new possibilities open up in this field of development.The Columbia Encyclopedia. Hence in future if well planned and implemented..Gov/ Hindorff.S. F. J. Collins. Chakravarti.Nih. & Manolio. Mehta.Your Guide To Understanding Genetic Conditions. the data obtained from the human genome project stands as a very promising field.  The Columbia University Press.

Plos Biol. S. E254 (2007) The Human Genome Project: Lessons From Large-Scale  Biology.Gov/10001477 Institute Web: . Michael Angelo  Palladino. Collins. 5.17 Studies. Et Al.2010 Web:  Http://Www.Genome. 286 (2003) Understanding The Human Genome Project. Benjamin Cummings. The Diploid Genome Sequence of An Individual  Human. Et Al. Science 300.Gov/Gwastudies Levy. Francis S. 2002 National Human Genome Research Http://Www.Genome.

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