human genome 7/31/03 3:55 PM Page 1

human genome project

more information: www.abpischools.org.uk

new horizons in medicine
Understanding the human genome can be seen as the key to Sequencing the DNA Diagnostic
understanding the mystery of human life itself. The Human Genome
5'
Single stranded DNA to be sequenced
3'
testing
Project set out to identify all of the genes in the human chromosomes
A A G C T G A C C T A G C
(around 30,000 of them) and to sequence the billions of base pairs which Tests using gene probes are being
mixed with
make up human DNA. As a result of advances in the technology used to developed to diagnose inherited
diseases. As it becomes possible to
sequence DNA, the task of producing the complete human genome identify the genes making people
was completed two years ahead of schedule! susceptible to problems like heart
DNA polymerase A T Limited number
disease or cancer, in the future
C G of dideoxynucleotide
Lots of bases which terminate everyone may be able to plan a
A T normal the DNA chain, each with
lifestyle to suit their genes.
CG nucleotide a different coloured
bases fluorescent tag

incubated

International
involvement
G G A T C G
Right drug,
T G G A T C G right place
The Human Genome Project has G
C
been an example of successful Some of the new treatments

G
T
international cooperation, with G G
C G developed using knowledge from the
T
scientists in 18 countries all A A Human Genome Project hit precise
T
working on sequencing the DNA. C targets in the body, such as cancer
C T G G A T C G G
cells. Others work best in people with a
particular genetic makeup. In future,
Many DNA fragments made, all of different lengths as
the chain terminating bases are added at random medicines may even switch genes on
or off to control disease.
Fragments separated by electrophoresis –
the shortest fragments travel furthest

C G T T C G A C T G G A T C G

T C G Sequence of new complementary strand

of DNA
The naked A T C G gives us
C A T C G

gene G G A T C G Gene therapy

‘Human DNA’ by Michael Dunning. T G G A T C G
Image from the Novartis and The Daily Telegraph A A G C T G A C C T A G C
This is what the human genome Visions of Science Photographic Awards.
www.visions-of-science.co.uk In gene therapy the idea is to
C T G G A T C G Sequence of original DNA strand
looks like – these letters represent overcome genetic diseases by
A C T G G A T C G
a fragment of gene THC1256444 modifying the faulty DNA which causes
which codes for an insulin-like G A C T G G A T C G
diseases such as thalassemia and
molecule. Each letter is C G A C T G G A T C G cystic fibrosis. Results from the Human
equivalent to one nucleotide T C G A C T G G A T C G Genome Project should help scientists
base and there are about make progress in this exciting new area
T T C G A C T G G A T C G
3 BILLION of them in the of treatments.
human genome. Model sequence