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Whatsa
Genome?
Tere are more than 6 billion people on our
planet each a massive collection o about
100 trillion cells.
How do these cells know what to do? What
tells them to work together to keep your heart
pumping, brain thinking and bones growing?
Te answer lies in a long, winding molecule
called deoxyribonucleic acid, or DNA.
Te DNA contained within each o your cellscarries the instructions needed to build and
maintain the many dierent types o cells that
make you, you. Researchers call this complete
set o DNA instructions a genome.
Is my genome unique?
Humans come in
many shapes and
sizes, but were all
very similar at the
DNA level. In act, the
genomes o any two
people are more than
99% the same.
Still, the tiny raction
o the genome that
varies among humans
is very important. DNA variations are part o what makes each o us
unique. Tey aect the color o your eyes, hair and skin. Whats more,
they inuence your risk o disease and your response to drugs.
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So, is everything determined by my genome?
No, your DNA is just one part o the amazing puzzle o who you are.
When it comes to your health, other pieces o the puzzle include
liestyle and environmental actors, such as the ood you eat and the
air you breathe. Once we learn more about how the human genome
interacts with these actors to cause disease, we may be able to change
our habits and adapt our environment to improve our health.
Our genomes also are likely to contribute to some o the ways we eel,
think and act. But keep in mind that many other things, such as howyou were raised and your access to medical care, can inuence your
behaviors and your health.
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What does my genome do?
I you could peer inside your cells, youd see your genome contained
in 46 tightly packed bundles o DNA 23 came rom your mother
and 23 rom your ather. Tese DNA bundles, called chromosomes,
provide the instructions that enable a one-cell embryo to develop into
a 100 trillion-cell adult.
But DNA isnt just about growth. It instructs cells
throughout your lie telling them how to respond
to the oods you eat, the germs you encounter and the
pollutants to which you are exposed. Ultimately, DNA
even inuences how you age.
o understand DNAs instruction manual, lets look at
its structure. I you unwind the DNA molecule packed
into each chromosome, it looks like a twisted
ladder. Te rungs o this ladder are made rom
our types o chemical building blocks. Tese
blocks adenosine, thymine, cytosine and
guanine are abbreviated with the
letters A, , C and G.
Depending on how many o these building blocks are stacked
together and the order in which they are arranged, DNA can produce
many dierent types o organisms.
It takes about 3 billion pairs o As, s, Cs and Gs to write the
instructions needed to build a human. So, every time the human body
produces a sperm or an egg, 3 billion DNA letters must be copied and
packaged so they can be passed along to uture ospring.
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Whats a gene?
An instruction manual isnt worth much until itis read and actually used to make something.
Te same goes or your genome.
Te DNA building blocks, or letters, in
your genome combine in dierent ways
to spell out specic instructions. Still,
the language o the genome doesnt
make much sense at rst glance.
ry reading this sequence o DNA letters:
ACAGGGCAAGACGG
But i you know how to decode the string
o letters and every cell does you can
begin to see three-letter words.
A CAG GG CA AG AC GG
Whats more, these words are strung
together to make sentences, or genes,
each o which tells the cell how to make a
specic protein.
Because tens o thousands o proteins are
needed to build an entire human, your
genome contains about 20,500 genes.
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Genes atWork
So, your genome provides instructions in the form ofgenes. But exactly how are these instructions used to build
proteins?
To make a protein, a genes DNA sequence is transcribedinto a molecule called messenger RNA (mRNA). Thismolecule leaves the nucleus and enters the outer region of
the cell, called the cytoplasm. There the mRNA is read. Tinymachines called ribosomes use the information to assemble
building blocks, known as amino acids, into a protein.
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What are genetic mutations? And how do they
cause disease?
Each o us contains many slight variations in our genomes that make
us unique. Most o these variations have little or no impact on our
health. But thats not always the case.
Sometimes i a DNA letter is missing or wrong in a genes instructions,
it may produce a damaged protein, extra protein or no protein at all.
Such changes in genes are called genetic mutations.
Genetic mutations can cause serious health problems becausethey aect proteins, which are the workhorses o your body. For
example, proteins orm special scaolds that help your cells keep their
shapes. Tey serve as enzymes that help your stomach digest ood.
Te molecule that carries oxygen in your blood is a protein, as are
estrogen, testosterone and other hormones.
Te transmission o genetic mutations rom one generation to the
next helps to explain why many diseases run in amilies. I a certaindisease runs in your amily, doctors say you have a amily history o the
condition.
What genetic tests are available for diseases?
Many rare diseases, such as cystic brosis and sickle cell anemia, are
caused by mutations in a single gene. Single genes also are responsible
or some o the rare, inherited types o cancer. Over the past couple odecades, researchers have developed genetic tests to detect mutations
or many single-gene disorders. Tis has led to ways to prevent or
reduce symptoms o some o these diseases.
Genetic tests also are available to help couples learn i they carry
genetic mutations or rare diseases and i they are likely to have a child
aected by the disease. I you are interested in such tests, a good place
to start is talking to a genetic counselor or an obstetrician.
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Most genetic tests involve taking a small sample o blood or saliva and
sending it to a lab. At the lab, technicians puriy DNA rom the sample
and use various technologies to see i it contains a specic geneticmutation. One approach involves placing DNA on tiny chips, called
microarrays, that resemble the chips used in computers.
Te situation is ar more complex or most common diseases, such as
cancer, diabetes and heart disease. Researchers are nding that multiple
genes along with liestyle and environmental actors interact
to determine the risk o these and many other disorders. Another
complication is that our genomes also contain genetic variations thatprotect us against certain diseases.
So, it will take some time
beore genetic tests are
developed to provide a
complete picture o your
risks or common diseases.
Until then, one important
thing you can do or
your health and your
amilys health is to
collect your amily history.
Knowing what diseases
have aected your blood
relatives can help yourhealth care provider
To organize and creategauge your risk or certain
your family health history, use theU.S. Surgeon Generals free Web tool at: diseases and suggest ways
www.surgeongeneral.gov/familyhistory to reduce that risk.
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What will genome research mean for me?
Walk into any drugstore and youll nd drugs developed with the idea
that most drugs work pretty much the same way in all people. But
genome research has helped to reshape that thinking. Depending on
your genetic make-up, some drugs may work aster or slower or
produce more or ewer side eects in you than they do in others.
Tanks to genome research, doctors soon will be able to use
inormation about your genes to choose those drugs and drug dosages
that are most likely to work well in you.
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Tis research will also lead to the development o better drugs. Rather
than screening or chemicals with broad action against a disease,
researchers are now usinggenomic inormation to
design drugs targeted at
specic pathways involved
in the disease. Te hope is that
this new generation o drugs will
work better and cause ewer side
eects than current treatments. Sucheorts are already starting to pay o,
as seen by the success o gene-based
drugs in the treatment o leukemia and
other cancers.
But thats not all. Tis new, more
individualized approach to health care will
extend ar beyond the drugs you receive.Within the next decade, genetic tests are
expected to become available to predict your risk
or many common conditions. Such tests will signal
the end to the current one-size-ts-all approach to health
care. Based on the inormation contained in your genome, your health
care provider will develop more personalized strategies or detecting,
treating and preventing disease.I your genetic prole shows that you are at increased risk or colon
cancer, you might undergo more requent colonoscopy screening and
reduce the amount o meat in your diet. Or i your genome contains
variations that raise your risk o heart disease, you might exercise
more and take drugs that lower cholesterol.
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What
Lies
ahead?
Tere is bright promise on the horizon.
As researchers learn more about the
human genome, more and moregene-based tools and technologies will
appear everywhere rom the doctors
ofce to the crime lab. Progress is being
made aster than anyone ever dreamed
possible.
But is our society ully prepared
to handle these new tools andtechnologies?
Since the start o the Human Genome Project, the National
Human Genome Research Institute has devoted a signicant
part o its resources to addressing the ethical, legal and social
implications o genome research.
Among the many questions being tackled are: Who should have
access to your personal genetic inormation? What can be done
to make sure that genetic inormation is not used to discriminate
against individuals or groups? Will all sectors o society have access
to these new technologies?
On a personal level, you likely will ace some challenging issues and
decisions related to gene-based technologies and inormation over
the course o your lietime.
By learning more about your genome and what it may mean
or your uture, you have taken a major step towards preparing
yoursel or this exciting new era: Te Genome Era.
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Learn moreabout Your Genome & Your heaLth
Genetics and Rare Diseases Information Center
www.genome.gov/Health/GARD
E-mail: [email protected]
oll-ree phone (12 p.m-6 p.m. Eastern, Mon.-Fri.)
1-888-205-2311
Y: 1-888-205-3223
Tis ree service provides inormation about genetic and rare diseases.
Its Web site oers educational materials and reers people to reliable
sources o inormation. Inormation specialists are also available to
answer questions in English and Spanish.
Health Fact Sheets
www.genome.gov/Health/FactSheets
Tis series o act sheets helps health care consumers understandgenetic concepts and technologies. opics include genetic testing,
genetic counseling and overviews o specic genetic disorders.
Genetics Home Reference
http://ghr.nlm.nih.gov
Tis online reerence, created by the National Library o Medicine
at NIH, provides consumer-riendly inormation about the eects o
genetic variations on human health. It contains inormation on thegenetics o more than 200 conditions.
NHGRI Clinical Studies
www.genome.gov/ClinicalStudies
Learn about clinical studies being conducted by the National Human
Genome Research Institute (NHGRI). Tis online resource lists
eligibility criteria and contact inormation or each study.
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http://www.genome.gov/Health/GARDmailto:[email protected]://www.genome.gov/Health/FactSheetshttp:///reader/full/http://ghr.nlm.nih.govhttp://www.genome.gov/ClinicalStudieshttp://www.genome.gov/Health/GARDmailto:[email protected]://www.genome.gov/Health/FactSheetshttp:///reader/full/http://ghr.nlm.nih.govhttp://www.genome.gov/ClinicalStudies -
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Learn moreabout the science of Your Genome
Talking Glossary
www.genome.gov/Education/Glossary
Tis online glossary eatures written denitions, audio explanations
and illustrations. It is designed to help people without scientic
backgrounds understand the terms and concepts used in genetic
research.
Understanding the Human Genome Project
www.genome.gov/Education/Kit
Tis multi-media, educational kit covers the basics o genomic science.
Interactive modules help high-school students to better understand
genetics, molecular biology and the Human Genome Project. It is
available online and as a CD-Rom, which can be requested by sendingan e-mail to [email protected].
Science Fact Sheets
www.genome.gov/Education/FactSheets
NHGRI oers a series o act sheets that explain complex genetic
concepts and research techniques to a non-scientic audience. opics
include cloning, DNA chip technologies and genome-wide association
studies.
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http://www.genome.gov/Education/Glossaryhttp://www.genome.gov/Education/Kitmailto:[email protected]://www.genome.gov/Education/FactSheetshttp://www.genome.gov/Education/Glossaryhttp://www.genome.gov/Education/Kitmailto:[email protected]://www.genome.gov/Education/FactSheets -
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