1. By Elliot Kronsberg, Danielle Grosse,
Samantha Kramer, and William Luttrell

2.  Began in 1990, completed in 2003
 U.S. Department of Energy
 National Institutes of Health
 Wellcome Trust (U.K.)-became major partner
 Other contributions-Japan, France, Germany,
China

3.  Identify all the human DNA genes
 Determine sequences of chemical base pairs
 store this information in databases
 Improve tools for data analysis
 Transfer related technologies to private sector
 Address ethical, legal, and social issues

4.  All DNA in organism – including genes
 Genes carry information for making proteins
 Proteins determine:
 how the organism looks
 how its body metabolizes food or fights infection
 sometimes even how it behaves

5.  Made of Adenine, Thymine, Cytosine, and
Guanine
 Repeated throughout genome
 Human genome - 3 billion base pairs
 Order of bases is extremely important
 Order dictates what organism is

6.  Determining sequence of human genome
 Identifying genes that human genome contains
 Allowed researchers to understand human
blueprint
 This knowledge will impact:
 The fields of medicine
 Biotechnology
 Life sciences

7.  The process of determining the exact order of
the 3 billion bases (adenine, guanine, cytosine,
and thymine) that make up the DNA of the 24
different autosomal human chromosomes
 The resulting DNA sequence maps are being
used by 21st Century scientists to explore
human biology and other complex phenomena

8.  Researchers collected blood (female) or sperm
(male) samples from a large number of donors
 Sperm cells are selected for DNA preparation
because there is a higher DNA to protein ratio
which makes it easier to isolate the DNA
 Researchers also used white blood cells from
female donor blood to represent women in the
project

9.  Gene tests involve direct examination of the
DNA molecule itself.
 Other genetic tests include biochemical tests for
gene products and for microscopic examination
of stained chromosomes.
 Researchers studied the genetic makeup of
several nonhuman organisms, including the
common human gut bacterium Escherichia coli,
the fruit fly, and the laboratory mouse.

10.  Previously, standard methods were based on
separating DNA fragments by gel electrophoresis
 This was extremely labor intensive and expensive

11.  Now, gel-based sequencers use multiple tiny
tubes to run standard electrophoretic
separations
 These separations are much faster because the
tubes dissipate heat well and allow the use of
much higher electric fields to complete
sequencing in shorter times.

12.  The human genome’s higher-gene-density are
mostly composed of cytosine and guanine
 However, the lower-gene-density areas are rich
in adenine and thymine
 The genes clump randomly along the genome
 There are areas of non-coding DNA in between

13.  The total number of genes is estimated at
25,000, much lower than previous estimates of
80,000 to 140,000
 The human genome sequence is almost exactly
the same (99.9%) in all people.
 Functions are unknown for more than 50% of
discovered genes.

14.  The largest human chromosome (chromosome
1) has the most genes (3,168) and the Y
chromosome has the fewest (344)
 The distribution of genes on the chromosomes
of mammals is uneven, making their
appearance look strange
 This contrasts with the genomes of many other
organisms, such as the mustard weed, the
worm, and the fly.
 Their genomes are more uniform, with genes
relatively evenly spaced along chromosomes.

15.  "Completing the human genome is a vital step
on a long road but the eventual health benefits
could be phenomenal.” -Professor Allan
Bradley
 Better diagnosis of diseases
 Help understand human migration and
evolution
 Understand how humans evolved and how
they are evolving today.
 Produce healthier/disease-free animals

16.  Screening newborn babies for disease
 Alert patients of risk of disease
 Risk of future development of disease (such as
Huntington’s)
 Testing for disease, like leukemia
 Study response to drugs
 Study mutations

17.  The Human Genome project has identified the
association of certain gene sequences with
diseases. These include:
• Breast cancer
• Muscle disease
• Deafness
• Blindness
 The Human Genome project may help treat or
even cure these diseases.

18.  Study diseases found to help health
 Maintain better general health
 Better drugs and medicine
 Understand diseases like Alzheimer's or heart
disease.
 Understand best drugs for someone based on
genetic makeup.

19.  Biological and Environmental Research Information System. (2003, October 29). TEN VIGNETTES: Stories of Genomic Discovery. Human
Genome Project Information. Retrieved March 13, 2012, from
www.ornl.gov/sci/techresources/Human_Genome/project/feb_pr/vignettes.shtml
 Biological and Environmental Research Information System. (2008, September 19). Genome Sequencing. Human Genome Project Information.
Retrieved March 13, 2012, from www.ornl.gov/sci/techresources/Human_Genome/faq/seqfacts.shtml
 Biological and Environmental Research Information System. (2011, September 19). About the Human Genome Project. Human
Genome Project Information. Retrieved March 13, 2012, from www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml
 Genome.gov. (2010, October 30). Retrieved from http://www.genome.gov/11006943
 Human genome project information. (2009, October 09). Retrieved from
http://www.ornl.gov/sci/techresources/Human_Genome/project/benefits.shtml
 (n.d.). Retrieved from http://www.knowledgene.com/part4.html
 The finished human genome - welcome to the genomic age. (2003, April 14). Retrieved from
http://www.sanger.ac.uk/about/press/2003/030414.html