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

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

S. 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. Such studies have since provided the scientific basis for individual risk assessments of nuclear medicine technologies. In 2007 the first sequences of human individuals were released. The NIH's National Centre for Biotechnology Information maintains GenBank. for example. DOE took a bold step in announcing its Human Genome Initiative.3 and identifying the extent of variation in the human genome. convinced that DOE’s missions would be well served by a reference human genome sequence. Since 1945. HISTORY The Human Genome Project traces its roots to an initiative in the U. Department of Energy. SIGNIFICANT FEATURES . DOE and Institutes the of National Health developed a plan for a joint HGP that officially began in 1990. Shortly thereafter. a database of publicly available genetic sequences from the genomes of plants and animals. In 1986.

000 to 1. dynamics and evolution. with the largest known human gene being dystrophin at 2. 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).7 million nucleotide bases.000 .000 genes.4 million locations where singlebase DNA differences (SNPs – single nucleotide polymorphism) occur in humans.4  million bases.4 Some of the significant observations drawn from human genome project are as follows:  Human genome contains 3164.000–much lower than previous estimates of 80. but sizes vary greatly. Repeated sequences make up very large portion of the human  genome. . They are thought to have no direct coding functions. Scientists have identified about 1. but they  shed light on chromosome structure.9 per cent) nucleotide bases are exactly the same in all  people. Less than 2 per cent of the genome codes for proteins. Almost all (99.000 genes in human DNA. The functions are unknown for over 50 per cent of the   discovered genes. The total number of genes is estimated at 30.40. An average gene consist of 3000 bases.25. Repetitive sequences are stretches of DNA sequences that are repeated many times. GOALS The mega project had several important goals which are as follows: Identify all the approximately 20. and the Y has the  fewest (231). sometimes hundred to thousand times.

The other approach is blind approach of simply sequencing the whole set of genome that contained all the coding and non-coding sequence. legal and social issues (ELSI) that may arise from the project. Because the bases exist as pairs. Store this information in databases. and later assigning different regions in the sequence with functions. Human chromosomes range in size from about 50. Improve tools for data analysis. . SEQUENCING OF A GENOME Sequencing means determining the exact order of the base pairs in a segment of DNA.000.000 base pairs.5  Determine the sequences of the 3 billion chemical base pairs    that make up the human DNA.000 to 300. referred as Sequence Annotation. Transfer related technologies to other sectors. 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).000. and the identity of one of the bases in the pair determines the other member of the pair. Address the ethical.

Candidates were recruited from a diverse population. Cloning of DNA fragments can be performed by using cloning vectors like BAC (Bacterial Artificial chromosomes) and YAC  (yeast artificial chromosomes). 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 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. The fragments were sequenced using automated DNA sequencers that worked on the principle of a method  developed by Frederick Sanger.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. To ensure that the identities of the volunteers cannot be revealed. These sequences were then arranged based on some overlapping regions present in them. The volunteers blood provided samples after being extensively counselled and giving their then informed . The sequence is derived from the DNA of several volunteers.

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

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

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

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

To study how humans relate to other organisms. 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.000 bases per day. both. in    function and dysfunction. organ or tumor. cleaves DNA at specific bases using chemicals. Specific focuses include developing sequencing and detection schemes that are faster. Almost all of the steps in both of these sequences are now automated Maxam-Gilbert sequencing. accurate. To study human variation. more sensitive. and economical. 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. also called the chain termination or dideoxy method. DNA underlies almost every aspect of human health. The result is different length fragments. stopping the replication at positions occupied by one of the four bases. also called chemical degradation method. Sanger sequencing.11 one single different nucleotide can be separated. 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. uses enzymes to synthesize DNA of varying length in four different reactions. .

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

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

Additional positive spin-offs from this research include a better understanding of biology. increased taxonomic understanding. increased development of pest-resistant and productive crops and livestock. ETHICAL. Having the genomic sequence of the methaneproducing microorganism Methanococcus jannaschii. LEGAL. More work must be done to determine the genetic basis of such variability. Additionally. for example. AND SOCIAL IMPLICATIONS ADDRESSED BY THE HUMAN GENOME PROJECT . especially in terms of cancer risk. 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. there is the possibility of developing entirely new biomass-based energy sources. Scientists know that genetic differences cause some people to be more susceptible than others to such agents. 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.14 Increased energy demands require strategies to circumvent the many problems with today's dominant energy technologies.  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.

CONCLUSION Medical researchers did not wait to use data from the Human Genome Project. At the project's conclusion in 2003.S. families. fewer than 100 human disease genes had been identified. A percentage of the Human Genome Project budget at the National Institutes of Health and the U. Ethical issues surrounding the design and conduct of genetic research with people. 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. The integration of new genetic technologies. The Human Genome Project is focused on the DNA sequence of an individual. The education of healthcare professionals. the number of identified disease genes had risen to more than 1. students. Advancement in this research can bring up new scope in the field of medicine. The mission of the ELSI program was to identify and address issues raised by genomic research that would affect individuals.400. This project opened doors to a very . policy makers. including the process of informed  consent. into the practice of clinical medicine. including the potential for genetic discrimination in  employment and insurance. and society. and the public about genetics and the complex issues that result from genomic research. Legal. and Social Implications (ELSI) program was founded in 1990 as an integral part of the Human Genome Project. When the project began in 1990.15 The Ethical. such as genetic  testing.

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

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

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