Human Genome Project Assignment (M Tuaseen 9211)

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Assignment

Name: M Tuaseen Shahzad


Roll No: 9211
Semester: 4th (DPT)
Subject: Molecular Biology & Genetics
Submitted to: Prof. Tehimna Siddique

Riphah International University


(Faisalabad Campus)
Human Genome project

The Human Genome Project (HGP) was an international scientific research project with the goal
of determining the base pairs that make up human DNA, and of identifying and mapping all of
the genes of the human genome from both a physical and a functional standpoint.

The Human Genome Project was started in 1990 as an international effort that had two
purposes. The first was to map the location of genes in the human genome. The second was to
find the sequence of nucleotides (adenine - A, guanine - G, cytosine - C, or thymine - T) (called
bases) that make up the DNA of the human genome. The bases are repeated millions or billions
of times throughout a genome. The human genome has three billion pairs of bases. The
particular order of the bases is very important. The order determines whether an organism is
human, or another species of plant or animal, or indeed bacteria or fungi, etc.

Completed in 2003, the Human Genome Project (HGP) was a 13-year project coordinated by
the U.S. Department of Energy (DOE) and the National Institutes of Health. During the early
years of the HGP, the Wellcome Trust (U.K.) became a major partner; additional contributions
came from Japan, France, Germany, China, and others. Project goals were to:

 identify all the approximately 20,500 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.

The human genome is made up of approximately three


billion base pairs of deoxyribonucleic acid (DNA). The
bases of DNA are adenine (A), thymine (T), guanine (G),
and cytosine (C).
Significance of the HGP

Impact on medicine:
In the years since completion of the HGP, the human genome database, together with other
publicly available resources such as the HapMap database, has enabled the identification of a
variety of genes that are associated with disease. This, in turn, has enabled more objective and
accurate diagnoses, in some cases even before the onset of overt clinical symptoms.
Association and linkage studies have identified additional genetic influences that modify the
development or outcome for both rare and common diseases.

Impact on law and the social sciences:


The HGP affects fields beyond biomedical science in ways that are both tangible and profound.
For example, human genomic sequence information, analyzed through a system called CODIS
(Combined DNA Index System), has revolutionized the field of forensics, enabling positive
identification of individuals from extremely tiny samples of biological substances, such as saliva
on the seal of an envelope, a few hairs, or a spot of dried blood or semen. By the same token,
innocent men and women have been exonerated on the basis of DNA evidence, sometimes
decades after wrongful convictions for crimes they did not commit.

Impact of the human genome project on biology and technology:


First, the human genome sequence initiated the comprehensive discovery and cataloguing of a
‘parts list’ of most human genes, and by inference most human proteins, along with other
important elements such as non-coding regulatory RNAs. The parts list has been essential for
the emergence of ‘systems biology’, which has transformed our approaches to biology and
medicine. The HGP benefited biology and medicine by creating a sequence of the human
genome; sequencing model organisms. It was able to take advantage of economies of scale and
the coordinated effort of an international consortium with a limited number of players, which
rendered the endeavor vastly more efficient than would have been possible if the genome were
sequenced on a gene-by-gene basis in small labs. It is also worth noting that one aspect that
attracted governmental support to the HGP was its potential for economic benefits. The
Battelle Institute published a report on the economic impact of the HGP. For an initial
investment of approximately $3.5 billion, the return, according to the report, has been about
$800 billion - a staggering return on investment.

Impact of the human genome project on society:


The HGP challenged biologists to consider the social implications of their research. Indeed, it
devoted 5% of its budget to considering the social, ethical and legal aspects of acquiring and
understanding the human genome sequence. That process continues as different societal issues
arise, such as genetic privacy, potential discrimination, justice in apportioning the benefits from
genomic sequencing, human subject protections, genetic determinism, identity politics, and the
philosophical concept of what it means to be human beings who are intrinsically connected to
the natural world.

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