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INTRODUCTION OF HUMAN GENOME The human genome is the genome of Homo sapiens, which is stored on 23 chromosome pairs plus

the small mitochondrial DNA. 22 of the 23 chromosomes are autosomal chromosome pairs, while the remaining pair is sex-determining. The haploid human genome occupies a total of just over 3 billion DNA base pairs. The Human Genome Project (HGP) produced a reference sequence of the euchromatic human genome, which is used worldwide in biomedical sciences. The haploid human genome contains ca. 23,000 proteincoding genes, far fewer than had been expected before its sequencing.[1][2] In fact, only about 1.5% of the genome codes for proteins, while the rest consists of non-coding RNA genes, regulatory sequences, introns, and noncoding DNA (once known as "junk DNA")

GOALS OF HUMAN GENOME PROJECT The sequence of the human DNA is stored in databases available to
anyone on the Internet. The U.S. National Center for Biotechnology Information (and sister organizations in Europe and Japan) house the gene sequence in a database known as GenBank, along with sequences of known and hypothetical genes and proteins. Other organizations, such as the Genome Bioinformatics Group at the University of California, Santa Cruz,[11] and Ensembl[12] present additional data and annotation and powerful tools for visualizing and searching it. Computer programs have been developed to analyze the data, because the data itself is difficult to interpret without such programs. The process of identifying the boundaries between genes and other features in a raw DNA sequence is called genome annotation and is the domain of bioinformatics. While expert biologists make the best annotators, their work proceeds slowly, and computer programs are increasingly used to meet the high-throughput demands of genome sequencing projects. The best current technologies for annotation make use of statistical models that take advantage of parallels between DNA sequences and human language, using concepts from computer science such as formal grammars.

Human Genome Project Goals


The specific goals of the HGP are to:: Identify all the estimated 80,000 genes in the human DNA, Determine the sequences of the 3 billion DNA chemical bases. Store this information in databases, Develop tools for data analysis, and Address the possible ethical, legal, and social issues (ELSI) (3).

FEATURES
Genes There are estimated to be between 20,000 and 25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down as genome sequence quality and gene finding methods have improved. Earlier[when?] predictions estimated that human cells had as many as 2,000,000 genes. Surprisingly, the number of human genes seems to be less than a factor of two greater than that of many much simpler organisms, such as the roundworm and the fruit fly. However, a larger proportion of human genes are related to central nervous system and especially brain development. Regulatory sequences The human genome has many different regulatory sequences which are crucial to controlling gene expression. These are typically short sequences that appear near or within genes. A systematic understanding of these regulatory sequences and how they together act as a gene regulatory network is only beginning to emerge from computational, high-throughput expression and comparative genomics studies. Some types of non-coding DNA are genetic "switches" that do not encode proteins, but do regulate when and where genes are expressed.
Repeat elements Tandem repeats Satellite DNA Minisatellite Microsatellite Interspersed repeats SINEs LINEs

METHOD While the objective of the Human Genome Project is to understand the genetic S makeup of the human species, the project has also focused on several other
nonhuman organisms such as E. coli, the fruit fly, and the laboratory mouse. It remains one of the largest single investigative projects in modern science. The Human Genome Project originally aimed to map the nucleotides contained in a human haploid reference genome (more than three billion). Several groups have announced efforts to extend this to diploid human genomes including the International HapMap Project, Applied Biosystems, Perlegen, Illumina, J. Craig Venter Institute, Personal Genome Project, and Roche-454. The "genome" of any given individual (except for identical twins and cloned organisms) is unique; mapping "the human genome" involves sequencing multiple variations of each gene.[3] The project did not study the entire DNA found in human cells; some heterochromatic areas (about 8% of the total genome) remain unsequenced. Benefits The work on interpretation of genome data is still in its initial stages. It is anticipated that detailed knowledge of the human genome will provide new avenues for advances in medicine and biotechnology. Clear practical results of the project emerged even before the work was finished. For example, a number of companies, such as Myriad Genetics started offering easy ways to administer genetic tests that can show predisposition to a variety of illnesses, including breast cancer, hemostasis disorders, cystic fibrosis, liver diseases and many others

Advantages of Human Genome Project:


Knowledge of the effects of variation of DNA among individuals can revolutionize the ways to diagnose, treat and even prevent a number of diseases that affects the human beings. It provides clues to the understanding of human biology.

Ethical, legal and social issues


The project's goals included not only identifying all of the approximately 24,000 genes in the human genome, but also to address the ethical, legal, and social issues (ELSI) that might arise from the availability of genetic information. Five percent of the annual budget was allocated to address the ELSI arising from the project.

Applications of the HGP


Scientists estimate that chromosomes in the human population differ at about 0.1%. Understanding these differences could lead to discovery of heritable diseases, as well as diseases and other traits that are common to man (6). Information gained from the HGP has already fueled many positive discoveries in health care. Well-publicized successes include the cloning of genes responsible for Duchenne muscular dystrophy, retinoblastoma, cystic fibrosis, and neurofibromatosis (2). Increasingly detailed genomic maps have also aided researchers seeking genes associated with fragile X syndrome, types of inherited colon cancer, Alzheimer's disease, and familial breast cancer (3).If other disease-related genes are isolated, scientists can begin to understand the structure and pathology of other disorders such as heart disease, cancer, and diabetes. Waste Control and Environmental Cleanup In 1994, 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, environmental remediation, toxic waste reduction, and industrial processing.

Biotechnology
The potential for commercial development presents U.S. industry with a wealth of opportunities. Sales of biotechnology products are projected to exceed $20 billion by the year 2000. The HGP has stimulated significant investment by large corporations and promoted the development of new biotechnology companies hoping to capitalize on the implications of HGP research (3).

Personal Opinion About the HGP


Although vast issues of social implications have arisen from genetic research, society has too much to gain from the discovery and consequent understanding of the human body and all its components. Americans alone spend enormous sums of money on personal health care including diet pills, hair loss, and virility drugs. It is unforeseable to me that our society will stop its' quest to be healthier and happier.I believe that genetic research and information should not be allowed in any discriminatory manner. Insurance companies should not be allowed to deny coverage to individual or even have access to that information. The rights of privacy need to be strengthened. Employers and employments agencies should not know an individuals' genetic information. This information should be for the individual at risk of health

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