Human Genome Project is a project which aims to 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 and store this information in databases.
History
The project begun on October 1990 and was completed on 2003 (coincided with the 50th anniversary of Watson and Crick’s description of the fundamental structure of DNA). The people behind the project include the National Human
Genome Research Institute at the National
Institutes of Health (NIH), USA, Office of
Biological and Environmental Research at the
USA Department of Energy (DOE) and some other countries.
Importance
Molecular Medicine:
 Improved diagnosis of disease
 Earlier detection of genetic predispositions to disease
 Rational drug design
Energy and Environmental Applications:
 Use microbial genomics research to create new energy sources (biofuels)
 Use microbial genomics research for safe, efficient environmental remediation
Risk Assessment:
 Assess health damage and risks caused by radiation exposure, including lowdose exposures
 Assess health damage and risks caused by exposure to mutagenic chemicals and cancer-causing toxins
 Reduce the likelihood of heritable mutations
Bioarchaeology, Anthropology, Evolution, and
Human Migration:
 Study evolution through germline mutations in lineages
 Study migration of different population groups based on female genetic inheritance
 Study mutations on the Y chromosome to trace lineage and migration of males
 Compare breakpoints in the evolution of mutations with ages of populations and historical events
Genome Maps (How they do it)
1.
Linkage Maps - The initial goal is to locate at least 3000 genetic markers
(genes or other identifiable loci on the
DNA) spaced evenly throughout the chromosomes. This approach is made feasible by the abundance of Restriction
Fragment Length Polymorphism (RFLP) markers. The resulting map will make it easier for researchers to find the loci of other markers, including genes, by testing for genetic linkage to known markers
2.
Physical Maps – This is done by cutting each chromosome into a number of identifiable fragments, and the determining their actual order in the chromosome. Chromosome walking is used to accelerate this mapping.
Chromosome Walking
In chromosome walking one starts with a DNA clone corresponding to a gene or an RFLP marker that is known to be as close as possible to the gene of interest.
One end of this clone is used to prepare a DNA probe, which is then used in DNA hybridization experiments to find an overlapping clone in a genomic DNA clone library.
Ethical, Legal and Social Issues
 The use of genetic information
 Privacy and confidentiality (Who controls the genetic information?)
 Psychological Issues (How does this person affect an individual?)
 Fairness issues (Who should have access to this information?)
 Reproductive Issues
 Health and environmental issues
Patenting Issues
In the US, patents cannot be filed for raw products of nature. But isolated strands of DNA are modified parts of nature, and could be patented by scientists.
Some people don’t want to patent this because
DNA sequences are a discovery of nature and therefore, not patentable.
Some want to patent this so that scientists will be justly rewarded by their actions, their research will be protected and the effort involved in locating, characterizing, and determining the role genes play elevate the discovery of their sequences to the status of an invention not merely a discovery.
Ethical, Legal and Social Issues Commision was established to deal with these issues.
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