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. Early in 2001 scientists from both teams jointly announced the completion of the mapping of the human genome. because of differences in the genes identified by the teams.2 sequence the 3. there may in fact be as many as 40. the project decoded the genome of the bacterium E. A subsequent. and Japan. .000 genes instead of the expected 100.1 billion DNA base pairs that make up the chromosomes. A comparable project using new DNAsequencing machines was begun as a private industry venture in the United States in 1998.000 and 25. and a nematode worm. detailed analyses of all the pairs were published by 2006. neurofibromatosis. In the process.000 human genes. constituting just 1% of the total human DNA. more refined estimate based on additional work on the genome was that there are between 20.000 genes. and the genome of a mouse was also decoded. indicating that they had identified an estimated 30. Huntington's disease. The Human Genome Project involved laboratories in the United States. with a stated goal of completing the mapping of the genome in three years.000.coli. a fruit fly. Subsequent comparison of the two teams' data has indicated that. Further work continues on refining the sequencing of genes on chromosomes. Begun in 1990 with the goal of enabling scientists to understand the basis of genetic diseases and to gain insight into human evolution. Germany. Great Britain. and ended in 2003 with 99% decoded. and an inherited form of breast cancer. the project was largely completed in 2000 when 85% of the human genome was decoded. eliminating the remaining gaps in the genome map. scientists identified genes for cystic fibrosis. 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 addition.

S. Shortly thereafter. DOE took a bold step in announcing its Human Genome Initiative. including some extinct species. In 1986.3 and identifying the extent of variation in the human genome. 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. 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. The NIH's National Centre for Biotechnology Information maintains GenBank. SIGNIFICANT FEATURES . a database of publicly available genetic sequences from the genomes of plants and animals. Such studies have since provided the scientific basis for individual risk assessments of nuclear medicine technologies. Venter's genome was the first individual full diploid human genome. Department of Energy. DOE and Institutes the of National Health developed a plan for a joint HGP that officially began in 1990. for example. HISTORY The Human Genome Project traces its roots to an initiative in the U.

4  million bases. dynamics and evolution. GOALS The mega project had several important goals which are as follows: Identify all the approximately 20. sometimes hundred to thousand times.000 to 1.000 genes. The total number of genes is estimated at 30. but they  shed light on chromosome structure. Almost all (99. .000 . with the largest known human gene being dystrophin at 2. The functions are unknown for over 50 per cent of the   discovered genes. They are thought to have no direct coding functions.9 per cent) nucleotide bases are exactly the same in all  people. and the Y has the  fewest (231).7 million nucleotide bases. Repetitive sequences are stretches of DNA sequences that are repeated many times. Chromosome 1 has most genes (2968).4 million locations where singlebase DNA differences (SNPs – single nucleotide polymorphism) occur in humans.25. Repeated sequences make up very large portion of the human  genome.000–much lower than previous estimates of 80.000 genes in human DNA. Less than 2 per cent of the genome codes for proteins.4 Some of the significant observations drawn from human genome project are as follows:  Human genome contains 3164. but sizes vary greatly. Scientists have identified about 1. An average gene consist of 3000 bases.40. This information promises to revolutionise the processes of finding chromosomal locations for disease-associated sequences and tracing human history.

Because the bases exist as pairs. SEQUENCING OF A GENOME Sequencing means determining the exact order of the base pairs in a segment of DNA. referred as Sequence Annotation. The other approach is blind approach of simply sequencing the whole set of genome that contained all the coding and non-coding sequence. Address the ethical.5  Determine the sequences of the 3 billion chemical base pairs    that make up the human DNA. legal and social issues (ELSI) that may arise from the project. Transfer related technologies to other sectors.000. and the identity of one of the bases in the pair determines the other member of the pair. . Human chromosomes range in size from about 50.000 base pairs.000. such as  industries. Improve tools for data analysis.000 to 300. and later assigning different regions in the sequence with functions. 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). Store this information in databases.

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

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

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

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

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

uses enzymes to synthesize DNA of varying length in four different reactions. . stopping the replication at positions occupied by one of the four bases. Sanger sequencing. To study how humans relate to other organisms. in    function and dysfunction.000 bases per day.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. also called the chain termination or dideoxy method. organ or tumor. DNA underlies almost every aspect of human health. To study gene expression in a specific tissue. and economical. cleaves DNA at specific bases using chemicals. and then determining the resulting fragment lengths. 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. A major goal of the HGP is to develop automated sequencing technology that can accurately sequence more than 100. To study human variation. more sensitive. both. accurate. also called chemical degradation method. The result is different length fragments. 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.

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

cancer. and industrial processing. Energy Sources Biotechnology. Biotechnology The potential for commercial development presents U. Medical researchers will be able to create therapeutic products based on new classes of drugs. and possible augmentation or replacement of defective genes  through gene therapy. Waste Control and Environmental Cleanup Through advances gained by the HGP. 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.13 maladies. although predicting the exact time may not be possible. 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. it may be certain that symptoms will eventually occur. Resulting from that project. toxic waste reduction. Other diseases where susceptibility may be determined include heart disease. immunotherapy techniques. six microbes that live under extreme temperature and pressure conditions have been sequenced. new the be important in improving the use of fossil-based resources. and diabetes. The HGP has stimulated significant investment by large corporations development of hoping to capitalize on implications of HGP research. Genomic information can indicate the future likelihood of some diseases. if the gene responsible for Huntington's disease is present.S. strengthened by the will biotechnology  and promoted companies the HGP. Sales of biotechnology products are projected to exceed $20 billion by the year 2000. . industry with a wealth of opportunities. environmental remediation. As an example.

ETHICAL.  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. Additional positive spin-offs from this research include a better understanding of biology. especially in terms of cancer risk. for example. LEGAL. Scientists know that genetic differences cause some people to be more susceptible than others to such agents. Additionally. there is the possibility of developing entirely new biomass-based energy sources. AND SOCIAL IMPLICATIONS ADDRESSED BY THE HUMAN GENOME PROJECT . increased development of pest-resistant and productive crops and livestock. 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. Having the genomic sequence of the methaneproducing microorganism Methanococcus jannaschii. increased taxonomic understanding. Biotechnology will help address these needs by providing a cleaner means for the bioconversion of raw materials to refined products. More work must be done to determine the genetic basis of such variability.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.

including the potential for genetic discrimination in  employment and insurance. Department of Energy was devoted to ELSI research. Advancement in this research can bring up new scope in the field of medicine. families. Ethical issues surrounding the design and conduct of genetic research with people. This project opened doors to a very . fewer than 100 human disease genes had been identified.15 The Ethical. A percentage of the Human Genome Project budget at the National Institutes of Health and the U. including the process of informed  consent. policy makers. 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. and society. Legal. The Human Genome Project is focused on the DNA sequence of an individual.S. The education of healthcare professionals. such as genetic  testing. At the project's conclusion in 2003.400. the number of identified disease genes had risen to more than 1. students. When the project began in 1990. into the practice of clinical medicine. and the public about genetics and the complex issues that result from genomic research. and Social Implications (ELSI) program was founded in 1990 as an integral part of the Human Genome Project. The mission of the ELSI program was to identify and address issues raised by genomic research that would affect individuals. CONCLUSION Medical researchers did not wait to use data from the Human Genome Project.

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

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

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