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

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

In 1986. DOE and Institutes the of National Health developed a plan for a joint HGP that officially began in 1990.3 and identifying the extent of variation in the human genome. a database of publicly available genetic sequences from the genomes of plants and animals. DOE took a bold step in announcing its Human Genome Initiative.S. 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. Since 1945. HISTORY The Human Genome Project traces its roots to an initiative in the U. Shortly thereafter. including some extinct species. Venter's genome was the first individual full diploid human genome. for example. Department of Energy. 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. The NIH's National Centre for Biotechnology Information maintains GenBank. Such studies have since provided the scientific basis for individual risk assessments of nuclear medicine technologies. SIGNIFICANT FEATURES .

Almost all (99.9 per cent) nucleotide bases are exactly the same in all  people.000 genes. and the Y has the  fewest (231). Less than 2 per cent of the genome codes for proteins. An average gene consist of 3000 bases. GOALS The mega project had several important goals which are as follows: Identify all the approximately 20. with the largest known human gene being dystrophin at 2.4  million bases. dynamics and evolution.000 . but they  shed light on chromosome structure. . but sizes vary greatly.25.7 million nucleotide bases.000 to 1. This information promises to revolutionise the processes of finding chromosomal locations for disease-associated sequences and tracing human history. sometimes hundred to thousand times. Repetitive sequences are stretches of DNA sequences that are repeated many times. They are thought to have no direct coding functions. The functions are unknown for over 50 per cent of the   discovered genes.000 genes in human DNA.000–much lower than previous estimates of 80. Chromosome 1 has most genes (2968). Repeated sequences make up very large portion of the human  genome. The total number of genes is estimated at 30. Scientists have identified about 1.4 Some of the significant observations drawn from human genome project are as follows:  Human genome contains 3164.4 million locations where singlebase DNA differences (SNPs – single nucleotide polymorphism) occur in humans.40.

. Store this information in databases.000 to 300.5  Determine the sequences of the 3 billion chemical base pairs    that make up the human DNA.000 base pairs. Human chromosomes range in size from about 50. Address the ethical.000. legal and social issues (ELSI) that may arise from the project. such as  industries. 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). referred as Sequence Annotation. Because the bases exist as pairs. Improve tools for data analysis. The other approach is blind approach of simply sequencing the whole set of genome that contained all the coding and non-coding sequence. SEQUENCING OF A GENOME Sequencing means determining the exact order of the base pairs in a segment of DNA.000. Transfer related technologies to other sectors. and the identity of one of the bases in the pair determines the other member of the pair. and later assigning different regions in the sequence with functions.

These sequences were then arranged based on some overlapping regions present in them. Candidates were recruited from a diverse population. 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. 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 volunteers responded to local public advertisements near the laboratories where the DNA libraries were prepared. To ensure that the identities of the volunteers cannot be revealed. The sequence is derived from the DNA of several volunteers. The fragments were sequenced using automated DNA sequencers that worked on the principle of a method  developed by Frederick Sanger. Cloning of DNA fragments can be performed by using cloning vectors like BAC (Bacterial Artificial chromosomes) and YAC  (yeast artificial chromosomes).

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

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

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

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

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

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

Waste Control and Environmental Cleanup Through advances gained by the HGP. and industrial processing. researchers may be able to use the organisms and their enzymes for such practical purposes  as waste control and environmental cleanup. Genomic information can indicate the future likelihood of some diseases. Medical researchers will be able to create therapeutic products based on new classes of drugs. Resulting from that project. cancer. Energy Sources Biotechnology.S. the DOE formulated the Microbial Genome Initiative to sequence the genomes of bacteria useful in the areas of energy production. By learning the unique protein structure of these microbes. if the gene responsible for Huntington's disease is present. The HGP has stimulated significant investment by large corporations development of hoping to capitalize on implications of HGP research. and diabetes. . industry with a wealth of opportunities. immunotherapy techniques. although predicting the exact time may not be possible. As an example. Biotechnology The potential for commercial development presents U. DNA-based tests clarify diagnosis quickly and enable geneticists to detect carriers within families. and possible augmentation or replacement of defective genes  through gene therapy. it may be certain that symptoms will eventually occur. new the be important in improving the use of fossil-based resources. toxic waste reduction. Other diseases where susceptibility may be determined include heart disease. six microbes that live under extreme temperature and pressure conditions have been sequenced. Sales of biotechnology products are projected to exceed $20 billion by the year 2000.13 maladies. environmental remediation. strengthened by the will biotechnology  and promoted companies the HGP.

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

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

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

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

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