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

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

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

4 Some of the significant observations drawn from human genome project are as follows:  Human genome contains 3164. Less than 2 per cent of the genome codes for proteins. but they  shed light on chromosome structure. Repeated sequences make up very large portion of the human  genome. Repetitive sequences are stretches of DNA sequences that are repeated many times. Almost all (99. and the Y has the  fewest (231). They are thought to have no direct coding functions.25. Chromosome 1 has most genes (2968). The functions are unknown for over 50 per cent of the   discovered genes.000–much lower than previous estimates of 80. .9 per cent) nucleotide bases are exactly the same in all  people.7 million nucleotide bases. This information promises to revolutionise the processes of finding chromosomal locations for disease-associated sequences and tracing human history.000 to 1. Scientists have identified about 1.40. GOALS The mega project had several important goals which are as follows: Identify all the approximately 20. An average gene consist of 3000 bases. dynamics and evolution.000 .000 genes in human DNA. sometimes hundred to thousand times.000 genes. with the largest known human gene being dystrophin at 2.4  million bases. but sizes vary greatly. The total number of genes is estimated at 30.4 million locations where singlebase DNA differences (SNPs – single nucleotide polymorphism) occur in humans.

Address the ethical. legal and social issues (ELSI) that may arise from the project. such as  industries. Transfer related technologies to other sectors. Because the bases exist as pairs. 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).000. The other approach is blind approach of simply sequencing the whole set of genome that contained all the coding and non-coding sequence.000.5  Determine the sequences of the 3 billion chemical base pairs    that make up the human DNA. . Store this information in databases. SEQUENCING OF A GENOME Sequencing means determining the exact order of the base pairs in a segment of DNA. and later assigning different regions in the sequence with functions.000 to 300. Improve tools for data analysis. and the identity of one of the bases in the pair determines the other member of the pair. referred as Sequence Annotation.000 base pairs. Human chromosomes range in size from about 50.

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

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

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

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

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

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

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

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

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

fewer than 100 human disease genes had been identified. Legal. When the project began in 1990. 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.S.400. and the public about genetics and the complex issues that result from genomic research. policy makers. Ethical issues surrounding the design and conduct of genetic research with people. into the practice of clinical medicine. such as genetic  testing. students. The education of healthcare professionals. families. Advancement in this research can bring up new scope in the field of medicine. This project opened doors to a very . Department of Energy was devoted to ELSI research. The integration of new genetic technologies. A percentage of the Human Genome Project budget at the National Institutes of Health and the U. including the potential for genetic discrimination in  employment and insurance.15 The Ethical. 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. the number of identified disease genes had risen to more than 1. The ELSI program focused on the possible consequences of genomic research in four main areas:  Privacy and fairness in the use of genetic information. At the project's conclusion in 2003. The Human Genome Project is focused on the DNA sequence of an individual.

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

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

Master your semester with Scribd & The New York Times

Special offer for students: Only $4.99/month.

Master your semester with Scribd & The New York Times

Cancel anytime.