Human� Genome Sequencing Project��(1 Oct 1990 – 14 Apr 2003)

INTRODUCTION

The Human Genome Project (HGP) was an international scientific research project. Human genome project started in 1984 by the U.S. government, the project launched in 1990.

Human Genome Project�

• Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy (DOE) and the National Institutes of Health (NIH; http://www.genome.gov/). The project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003.
• HGP researchers deciphered the human genome in three major ways: determining the order, or "sequence," of all the bases in our genome's DNA; making maps that show the locations of genes for major sections of all our chromosomes; and producing what are called linkage maps, through which inherited traits (such as those for genetic disease) can be tracked over generations

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What is Human Genome Sequencing Project?

The main goal of the Human Genome Project were first articulated in 1988 by a special committee of the U.S. National Academy of Sciences.

𝓖𝓸𝓪𝓵𝓼 𝓸𝓯 𝓗𝓾𝓶𝓪𝓷 𝓖𝓮𝓷𝓸𝓶𝓮 𝓟𝓻𝓸𝓳𝓮𝓬𝓽

Goals of HGP�

• Identify  all the approximately 20,000-25,000 genes in human DNA,
• Determine  the sequences of the 3 billion chemical base pairs that make up human DNA,
• Store  this information in databases,
• Improve  tools for data analysis,
• Transfer  related technologies to the private sector, and
• Address the ethical, legal, and social issues (ELSI) that may arise from the project.

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Sequencing Strategies

• To sequence DNA, it must be first be amplified, or increased in quantity. Two types of DNA amplifications are cloning and 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. Vectors normally used are viruses, bacteria, and yeast cells. Cloning provides an unlimited amount of DNA for experimental study .

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Sequencing Strategies…..

• 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. The mixture is heated, separating the two strands in a double-stranded DNA molecule. 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. 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. In less than 90 minutes, PCR cycles can amplify DNA by a millionfold .

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Sequencing Strategies…..

• Now that the DNA has been amplified, sequencing can begin. Two basic approaches are Maxam-Gilbert sequencing and Sanger sequencing. Both methods are successful because gel electrophoresis can produce high-resolution separations of DNA molecules.
• 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. Even fragments that have only one single different nucleotide can be separated. Almost all of the steps in both of these sequences are now automated

Sequencing Strategies…..

• Maxam-Gilbert sequencing, also called chemical degradation method, cleaves DNA at specific bases using chemicals. The result is different length fragments. A refinement to this method known as multiplex sequencing enables scientists to analyze approximately 40 clones on a single DNA sequencing gel.
• Sanger sequencing, also called the chain termination or dideoxy method, uses enzymes to synthesize DNA of varying length in four different reactions, stopping the replication at positions occupied by one of the four bases, and then determining the resulting fragment lengths .

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Impact of Human Genome Project

• The economic and fundamental impacts by the sequencing of the Human Genome are already large and widespread.
• Overall, however, the impacts on the human genome sequencing are just beginning-large scale benefits in human medicine, early stages

IMPACT OF HUMAN GENOME PROJECT

Big Science Transforms Biology and Medicine

The Human Genome Project has transformed biology through its intigrated big science approach to deciphering a reference human genome sequence along with the complete sequences of a key model.

Development in Medical Science

Implications of the Genome Project for Medical Science

By the Human Genome Project, genetics will no longer be limited to guiding medical surveillance based on family histories, or classifying the numerous but relatively rare conditions that stem from changes in single genes.

Applications of Human Genome Project

• Molecular Medicine
• Waste Control and Environment
• Biotechnology
• Energy Sources
• Risk Assessment
• Sequence Analysis and Annotation

In Molecular Medicine

Technology Developments

New technologies, including capillary-based sequencing and methods for genotyping single-nucleotide polymorphisms, have recently been introduced, leading to further improvements in capacity for genomic analysis, but further advances are still needed. Some examples are:

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Technology Developments

Enternal links

. Natinal Human Genome Research Institute (NHGRI)

. Human Genome News

. The HGP information pages

. yourgenome.org: The Sanger Institute public information pages

. Ensemble project

. UCSC genome browser

. Nature magazine’s human gateway

. Welcome Trust Human genome website

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REFERENCES

• https://www.google.com/url?sa=i&url=https%3A%2F%2Fsitn.hms.harvard.edu%2Fflash%2F2019%2Flessons-from-the-human-genome-project%2F&psig=AOvVaw2vVh-HP2Bl_D0Hua8iNwz_&ust=1664704631124000&source=images&cd=vfe&ved=0CAkQjRxqFwoTCPjb9pvivvoCFQAAAAAdAAAAABAE
• https://www.google.com/url?sa=i&url=https%3A%2F%2Fedurev.in%2Fquestion%2F2134243%2FGoals-of-Human-Genome-Project--HGP--&psig=AOvVaw1DektHLSs7TRMnwp3uxNFt&ust=1664703497552000&source=images&cd=vfe&ved=0CAkQjRxqFwoTCIjb0PfdvvoCFQAAAAAdAAAAABAD
• https://www.google.com/url?sa=i&url=https%3A%2F%2Fweb.ornl.gov%2Fsci%2Ftechresources%2FHuman_Genome%2Fproject%2Feconomics.shtml&psig=AOvVaw2vynRekGCanTGJAYIepxes&ust=1664703565615000&source=images&cd=vfe&ved=0CAkQjRxqFwoTCKi4_ZnevvoCFQAAAAAdAAAAABAD

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