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BIOLOGY Class 12 Project
BIOLOGY Class 12 Project
Kamala Niketan
Montessori
school
HUMAN GENOME
PROJECT (HGP)
M.NAVEEN DOSS
XII - D
ACKNOWLEDGEMENT
I would like to express my special thanks of gratitude to my
Biology teacher Mrs. Praveena as well as our principal Mrs.
Mala Sivakumar who gave me the golden opportunity to do
this wonderful report on the topic Human Genome Project
(HGP), which also helped me in doing a lot of Research and
I came to know about so many new things.
Secondly I would also like to thank my parents and friends
who helped me a lot in finishing this project within the limited
time.
I am making this project not only for marks but to also
increase my knowledge.
I ONCE AGAIN THANK EVERYBODY WHO HAS
HELPED ME IN ACCOMPLISHING MY JOB
CONTENTS
Introduction
Observation
Conclusion
INTRODUCTION
Although every person on our planet is built from the same
blueprint, no two people are exactly the same. While we are
similar enough to readily distinguish ourselves from other living
creatures we also celebrate our individual uniqueness. So what is
it that makes us all human, yet unique? Our DNA.
Put three billion of these base pairs together in the right order,
and you have a complete set of human DNA—the human
genome. This amounts to a DNA molecule about a metre long.
It’s the order in which the base pairs are arranged—their
sequence—in our DNA that provides the blueprint for all living
things and makes us what we are. The DNA sequence of the
base pairs in a fish’s DNA is different to those in a monkey.
The base pair sequence of all people is nearly identical—that’s
what makes us all humans. However, there are small differences
in the order of the three billion base pairs in everyone’s DNA that
cause the variations we see in hair colour, eye colour, nose shape
etc. No two people have exactly the same DNA sequence (except
for identical twins, because they came from a single egg that split
into two, forming two copies of the same DNA).
Identical Twins
We get our DNA from our parents. The DNA of the human
genome is broken up into 23 pairs of chromosomes (46 in total).
We receive 23 from our mother and 23 from our father. Egg and
sperm cells have only one copy of each chromosome so that
when they come together to form a baby, the baby has the normal
2 copies. Three billion is a lot of base pairs, and together they
contain an enormous amount of information.
WHY STUDY OUR GENOME?
Working out the sequence of the base pairs in all our genes
enables us to understand the code that makes us who we are.
This knowledge can then give us clues on how we develop as
embryos, why humans have more brainpower than other animals
and plants, and what happens in the body to cause cancer. But
establishing the sequence of three billion base pairs is a BIG task.
The great and ambitious research program that sought to do this
was called the Human Genome Project.
The idea of the Human Genome Project was born in the 1970s,
when scientists learned how to ‘clone’ small bits of DNA, around
the size of a gene. To clone DNA, scientists cut out a fragment of
human DNA from the long strand and then incorporate it into the
genome of a bacteria, or a bacterial virus. The fragment is then is
replicated within the bacterial cell many times and every time the
bacterial cell divides, the new cells also contain the introduced
D
DNA fragment. Bacterial cells reproduce prolifically, and so this
process ends up making millions of cells that all contain the
introduced DNA fragment, enough that researchers can study it in
detail and figure out the sequence of the base pairs.
With time, researchers have been able to study an ever greater
number of different DNA fragments, that is, different genes. It
became clear that certain variant DNA sequences were
associated with particular conditions: diseases such as cystic
fibrosis or breast cancer, or normal, non-harmful variants like red
hair. There was initially a lot of opposition to the Human Genome
Project, even from some scientists. Considering only around 1.5
per cent of our genome is actual genes that code for proteins, it
was thought that much of the $3 billion cost to sequence the
entire human genome would be wasted on the ‘junk’ DNA that
scientists thought didn’t get used. The important role the ‘junk’
DNA plays in gene regulation wasn’t yet appreciated.
FINDINGS
Key findings of the draft (2001) and complete (2004) genome sequences
include:
1. There are approximately 22,300 protein-coding genes in human
beings, the same range as in other mammals.
2. The human genome has significantly more segmental
duplications (nearly identical, repeated sections of DNA) than had
been previously suspected. At the time when the draft sequence was
published fewer than 7% of protein families appeared to be
vertebrate specific.
ACCOMPLISHMENT
The Human Genome Project was started in 1990 with the goal of
sequencing and identifying all three billion chemical units in the human
genetic instruction set, finding the genetic roots of disease and then
developing treatments. It is considered a Mega Project because the human
genome has approximately 3.3 billion base-pairs. With the sequence in
hand, the next step was to identify the genetic variants that increase the
risk for common diseases like cancer and diabetes.
It was far too expensive at that time to think of sequencing patients’ whole
genomes. So the National Institutes of Health embraced the idea for a
"shortcut", which was to look just at sites on the genome where many
people have a variant DNA unit. The theory behind the shortcut was that,
since the major diseases are common, so too would be the genetic variants
that caused them. Natural selection keeps the human genome free of
variants that damage health before children are grown, the theory held, but
fails against variants that strike later in life, allowing them to become quite
Common. (In 2002 the National Institutes of Health started a $138 million
dollar project called the Hap Map to catalog the common variants in
European, East Asian and African genomes.)