An entire arrangement of the DNA with every one of
the qualities of life forms is called as genome. The genome has all data
required for the upkeep of creature. In people a duplicate of whole genome
(more than 3 billion DNA base combine) is encased in cells. The human genome
comprises of an expected 100,000 qualities; these are situated on 23 sets of
chromosomes, one set from each parent, comprising of one sex chromosome match,
and 22 autosomal chromosome sets.
Human Genome Project:
So as to decide the
grouping of genome and distinguish the qualities that it contain a worldwide
research exertion was resolved that is called as human genome venture. Additionally
comprehension of the structure and association of qualities will take into
account an efficient investigation of their typical capacity and control in a
Why has it been important?
The work of
the Human Genome Project has enabled researchers to understand the blueprint
for building a person. As researchers learn more about the functions of genes
and proteins, this knowledge will have a major impact in the fields of
medicine, biotechnology, and the life sciences.
History of human genome project:
In 1988, a committee organized by the
National Institutes of Health and the Department of Energy developed an action
plan for the Human Genome Project.
1990, a five-year joint research proposal was submitted to Congress, and in
October 1990, the Human Genome Project officially began. The project has been
organized and supported primarily by the DOE and the NIH, which established
working groups to address genome mapping, computational analysis to handle
databases, and the social, legal, and ethical implications of the human genome
1988, the Human Genome Organization (HUGO) was established, which facilitates
the international scientific effort
actual overlay of the Human Genome Project is enormous. Mapping and sequencing
was initially projected to take 15 years, and be completed in 2005 at an
estimated cost of three billion dollars. However, recent reports state that
progress has been more rapid than previously expected. After mapping and
sequencing are complete, many years will be needed to completely identify all
the genes and determine the format of gene expression.
Goals of human genome project:
primary goal of the Human Genome Project is to generate detailed maps of the
human genome. These maps will aid in determining the location of genes within
the human genome; more specifically, it will assign genes to their chromosomes.
There are two types of maps that are being developed, genetic linkage maps and
linkage maps determine the relative arrangement and approximate distances
between genes and markers on the chromosomes,
Physical maps specify the physical location
and distance between genes or DNA fragments.
mapping is complete, the DNA must be sequenced to determine the order of all
the nucleotide bases of the chromosomes, and the genes in the DNA sequence must
be identified. In all aspects of the project, a major focus has been developing
instrumentation to increase the speed of data collection and analysis.
utilized as a part of human genome project:
There are a
wide range of procedures that have been attempted in sequencing and mapping the
genome. Some have reduced being used because of time and precision concerns.
Once a guide has been resolved this data can be utilized to find the gene(s)
causing the illness and afterward settle it.
One of the techniques used in mapping genomes
is YAC – yeast artificial chromosomes technique. This is done by cloning large
pieces of DNA in yeast. The overlapping segments are used to piece together the
DNA. YAC technology has lead to the mapping of chromosomes 3, 11, 12, 21, 22,
technology, which locates variations, was one of the first used in mapping. In
fact, it showed that mapping was possible. This technique was both expensive
and slow. Replacing this technique is the polymerase chain reaction – PCR. PCR
rapidly clones the existing DNA, so a larger amount of DNA is obtained. This
now large amount of DNA can be sequenced with the aid of a primer.
cloning allows for characterization of a gene once its approximate location is
known. This technique aided in identifying genes for breast cancer, diabetes,
and Alzheimer’s disease.
Expressed sequence tags (ESTs):
method involves ESTs – expressed sequence tags – which are single stranded DNA.
These DNA segments act as lures to identify a gene’s sequence. However, this
procedure cannot identify every gene and ignores many others.
Shotgun sequencing method:
method has been used for smaller genomes and may be applied to the human
genome. This involves breaking the DNA into thousands of pieces. These
fragments are sequenced and overlapping segments are matched to reveal the
Microsatellites are commonly used in
mapping. Microsatellites are areas of repetitive DNA. The advantages of
microsatellites include abundancy, variation and ability to be analyzed by PCR
the pairs of genes on the chromosomes. Using genetic mapping, you can determine
the genetic code that allows our bodies to develop.
us to determine the regions of chromosomes that are likely to contain a risk
gene. Linkage helps locate the distance between disease causing genes
Ethical legal and social implications of human genome project:
genome project provides valuable information to increase our understanding
about genome but it also have certain limitations. The Ethical, Legal, 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,
families, and society. A percentage of the Human Genome Project budget at the
National Institutes of Health and the U.S. Department of Energy was devoted to
program focused on the possible consequences of genomic research in four main
and fairness in the use of genetic information, including the potential for
genetic discrimination in employment and insurance.
integration of new genetic technologies, such as genetic testing, into the
practice of clinical medicine.
issues surrounding the design and conduct of genetic research with people,
including the process of informed consent.
education of healthcare professionals, policy makers, students, and the public
about genetics and the complex issues that result from genomic research
What did the Human Genome Project accomplish?
April 2003, researchers announced that the Human Genome Project had completed a
high-quality sequence of essentially the entire human genome. This sequence
closed the gaps from a working draft of the genome, which was published in 2001.
also identified the locations of many human genes and provided information
about their structure and organization. The Project made the sequence of the
human genome and tools to analyze the data freely available via the Internet.
addition to the human genome, the Human Genome Project sequenced the genomes of
several other organisms, including brewers’ yeast, the roundworm, and the fruit
2002, researchers announced that they had also completed a working draft of the
mouse genome. By studying the similarities and differences between human genes
and those of other organisms, researchers can discover the functions of
particular genes and identify which genes are critical for life.
Pros and cons of human genome project:
Foresee and avoid diseases:
which genes predispose people to particular conditions, doctors will be able to
predict which people are likely to suffer from a particular disease and offer a preventive course of action, which
may involve medical treatment or lifestyle changes. Furthermore, cures could be
found for genetic diseases like cystic fibrosis or sickle cell anemia.
medicines can be developed based on the way our individual bodies react to the
disease and the treatments, which will be more effective because the medicines
will be tailored for our specific medical needs.
Doctors can develop more accurate diagnostic
techniques for certain conditions which are difficult to diagnose at an early stage.
Improve forensic science:
Genetic fingerprinting helps to match a
suspect to the biological material found at a crime scene. In the future it
could be possible to figure out what a suspect looks like from DNA found at a
crime scene e.g. their eye, hair and skin color.
could be diagnosed with illnesses that they are susceptible to develop in the
future and spend their life worrying about it even before they get it.
genetic problems could be under pressure not to have children as a threat of
passing on their faulty genes onto the next generation.
Discrimination by employers and insurers:
insurance could be impossible to get and more expensive if you have any genetic
likelihood of serious disease. Furthermore, employers may discriminate against
people who are genetically likely to get a disease and be favorable to those
who are healthy
Outcomes of human genome project:
major outcomes of human genome project are as follows:
proven to have the ability to locate genes that are responsible for locating
Therapy used today
HGP has been very successful
At this point the set
of books with only four letters is being written and is ahead of schedule due to
advancing equipment and techniques. Their goals are being met by using YAC
technology, ESTs and microsatellites among others. If government wins the race
everyone will have access to this invaluable information. If private industry
wins these books may have a price tag too big for the common man. Ethical
issues are being rised about what should be done with this information when it
is discovered. Groups such as ELSI are working hard to keep this at a minimum.
Overall, the human genome project can be a success. It will be a tool to
possibly tell us our future and maybe more importantly our past.