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

France.000 genes instead of the expected 100.000 human genes. because of differences in the genes identified by the teams. In addition. Germany. with a stated goal of completing the mapping of the genome in three years. more refined estimate based on additional work on the genome was that there are between 20. and an inherited form of breast cancer. constituting just 1% of the total human DNA. neurofibromatosis. Begun in 1990 with the goal of enabling scientists to understand the basis of genetic diseases and to gain insight into human evolution. . the project decoded the genome of the bacterium E. and the genome of a mouse was also decoded. a fruit fly. Subsequent comparison of the two teams' data has indicated that.000 genes. Early in 2001 scientists from both teams jointly announced the completion of the mapping of the human genome. eliminating the remaining gaps in the genome map. A subsequent. indicating that they had identified an estimated 30. Huntington's disease. The Human Genome Project involved laboratories in the United States.2 sequence the 3. A comparable project using new DNAsequencing machines was begun as a private industry venture in the United States in 1998.coli. in order to study genetic similarities among species. 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. In the process. the project was largely completed in 2000 when 85% of the human genome was decoded. scientists identified genes for cystic fibrosis.000 and 25. and ended in 2003 with 99% decoded. Further work continues on refining the sequencing of genes on chromosomes. there may in fact be as many as 40. and a nematode worm. detailed analyses of all the pairs were published by 2006.1 billion DNA base pairs that make up the chromosomes. and Japan.000. Great Britain.

HISTORY The Human Genome Project traces its roots to an initiative in the U. SIGNIFICANT FEATURES . In 1986. Shortly thereafter. Such studies have since provided the scientific basis for individual risk assessments of nuclear medicine technologies.3 and identifying the extent of variation in the human genome. The NIH's National Centre for Biotechnology Information maintains GenBank. DOE took a bold step in announcing its Human Genome Initiative. Department of Energy. In 2007 the first sequences of human individuals were released. including some extinct species. convinced that DOE’s missions would be well served by a reference human genome sequence. Venter's genome was the first individual full diploid human genome.S. 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. Since 1945. 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. for example.

and the Y has the  fewest (231). Less than 2 per cent of the genome codes for proteins. This information promises to revolutionise the processes of finding chromosomal locations for disease-associated sequences and tracing human history. The total number of genes is estimated at 30.40. Repeated sequences make up very large portion of the human  genome.000 genes in human DNA. GOALS The mega project had several important goals which are as follows: Identify all the approximately 20. Chromosome 1 has most genes (2968). . The functions are unknown for over 50 per cent of the   discovered genes. with the largest known human gene being dystrophin at 2.9 per cent) nucleotide bases are exactly the same in all  people.000 to 1.000 .4 Some of the significant observations drawn from human genome project are as follows:  Human genome contains 3164. An average gene consist of 3000 bases. dynamics and evolution. Scientists have identified about 1. but sizes vary greatly.000 genes.4  million bases.7 million nucleotide bases.25. but they  shed light on chromosome structure. Almost all (99. They are thought to have no direct coding functions.000–much lower than previous estimates of 80. sometimes hundred to thousand times.4 million locations where singlebase DNA differences (SNPs – single nucleotide polymorphism) occur in humans. Repetitive sequences are stretches of DNA sequences that are repeated many times.

Transfer related technologies to other sectors.000 to 300. such as  industries. and later assigning different regions in the sequence with functions.000. and the identity of one of the bases in the pair determines the other member of the pair. Store this information in databases. Human chromosomes range in size from about 50. Address the ethical. The other approach is blind approach of simply sequencing the whole set of genome that contained all the coding and non-coding sequence. referred as Sequence Annotation.000 base pairs. SEQUENCING OF A GENOME Sequencing means determining the exact order of the base pairs in a segment of DNA. Improve tools for data analysis. legal and social issues (ELSI) that may arise from the project.5  Determine the sequences of the 3 billion chemical base pairs    that make up the human DNA.000. . 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). Because the bases exist as pairs.

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

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

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

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

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

accurate. and then determining the resulting fragment lengths. organ or tumor. Almost all of the steps in both of these sequences are now automated Maxam-Gilbert sequencing. both. A major goal of the HGP is to develop automated sequencing technology that can accurately sequence more than 100. also called chemical degradation method. A refinement to this method known as multiplex sequencing enables scientists to analyze approximately 40 clones on a single DNA sequencing gel. 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. . To study gene expression in a specific tissue. and economical. DNA underlies almost every aspect of human health.000 bases per day. also called the chain termination or dideoxy method. Sanger sequencing. To study human variation. cleaves DNA at specific bases using chemicals. uses enzymes to synthesize DNA of varying length in four different reactions. To study how humans relate to other organisms. stopping the replication at positions occupied by one of the four bases.11 one single different nucleotide can be separated. The result is different length fragments. Specific focuses include developing sequencing and detection schemes that are faster. more sensitive. in    function and dysfunction.

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

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

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

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

H.. T. 6th Ed. National Library Of Medicine®  Web: Http://Ghr. 2008 Genetics Home Reference. L. As this research continues many new possibilities open up in this field of development.  Proquest.. Human  Genome Project: 1998-2003. A. E. Collins. REFERENCES  Studies By J. the data obtained from the human genome project stands as a very promising field. Science.S. P. sequencing. A. Jordan.. Gesteland. New Goals for The U. The Catholic University Of America.Your Guide To Understanding Genetic Conditions.S.The Columbia Encyclopedia.Nih.Nlm. S. A. J. A Service Of The U. N. P. Hall. Junkins. Walters. L. Sulston And G. 282:682-689 Human Genome Project Discoveries: Dialectics And Rhetoric In The Science Of Genetics. Hence in future if well planned and implemented.16 viable phenomenon. A.  The Columbia University Press. F. Shreeve (2004). R. 1998. Chakravarti. A. A Catalog Of Published Genome-Wide Association . Ferry (2003) And J..Gov/ Hindorff. which can lead to the cure of many genetic disorders which are caused due to abnormal coding. Patrinos. Mehta. Copyright© 2014. & Manolio.

Collins.Genome. 286 (2003) Understanding The Human Genome Project.2010 Web:  Http://Www.Gov/Gwastudies Levy. 5. S. Et Al.17 Studies. Science 300. Michael Angelo  Palladino. Et Al. Benjamin Cummings. Plos Biol. The Diploid Genome Sequence of An Individual  Human. Francis S.Gov/10001477 Institute Web: .Genome. 2002 National Human Genome Research Http://Www. E254 (2007) The Human Genome Project: Lessons From Large-Scale  Biology.

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