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DNA Sequencing and the Human Genome Project

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Kendall M

on 17 March 2014

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Transcript of DNA Sequencing and the Human Genome Project

DNA Sequencing and the Human Genome Project
How Does DNA Sequencing work
What is DNA Sequencing?
How William's Syndrome affects people
Why do we sequence DNA
How William's Syndrome affects people
What is The Human Genome Project
History
-Dr. J.C.P. Williams first defined the syndrome.

-Many patients with cardiovascular problems coming in for heart surgery had similar traits ect. and began further investigation on the subject

-A year later a German physician Dr. A. J. Beuren described three new patients with the same presentation.

-Leading to the disorder's full original name of Williams-Beuren syndrome.
Science Behind The Project
Applications
by: Kendall Mar and Alissa Nenoff
DNA SEQUENCING
Techniques
First draft of the human genome published in the journal
Nature
in February of 2001
DNA Sequening


Restriction Fragment-Length Polymorphisms (RFLP)


Yeast Artificial Chromosomes (YAC)


99%
the same
All human beings are more han
20 000-20 500 HUMAN GENES
Bacterial Artificial Chromosomes (BAC)


The Polymerase Chain Reaction (PCR)


Electrophoresis


“This information can be thought of as the basic set of inheritable "instructions" for the development and function of a human being.”

- National Human Genome Research Institute
THE GENOME
Social Controversy
Social Controversy
Who should have access to your personal genetic information?

What can be done to make sure that genetic information is not used to discriminate against individuals or groups?

Will all sectors of society have access to these new technologies?

How can DNA sequence information provide foundations for scientific and medical knowledge?

Who was involved in the human genome project?
Francis S. Collins
Craig Venter
Where?
History of DNA Sequencing
mid-1970s
few base pairs per year

1990s
100,000 bases and high costs

Today
several important genomes have been sequenced
less expensive sequencing
improved technology and speed
1. Identify all genes of the human genome

2. Sequence all neucleotides of the human genome

3. Develop databases to store this information

4. Develop tools for data analysis

5. Adress ethical, leal and social issues

6. Sequence model oragnisms
John Sulston
But...
A decade later, genetic map yeilds few new cures
Questions?
Crossword
Across
2. A unit of heredity that is transferred from a parent to offspring and is held to determine some characteristic of the offspring.
4. DNA is composed of phosphate groups, deoxyribose sugar and 4 ____ (adenine, guanine, thymine and cytosine).
5. The template strand of DNA is placed in reaction mixture with free nucleotides and DNA polymerase, the mixture is then heated to break apart the strands before replication.
6. Magazine that published the first draft of the human genome in February 2001.
7. A laboratory technique used to separate DNA, RNA, or protein molecules based on size and electrical charge.
8. Won Nobel Prize in the mid 1970's for development of techniques to sequence DNA.
Down
1. United states _______ __ _____Established an early genome project in 1987 and helped coordinate the project from 1990-2003.
3. The complete set of genes in an organism

GENE
BASES
D

P

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F
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G

N
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CHAIN TERMINA I N
NATUR
ELE C ROPHORESIS
REDERICKSANGER
THE END!
Here is an example of how the fragments are laid out in order of longest to shortest.

The sequence of the DNA bases is read from the ending base of each fragment.
Once the DNA double helix is separated, the template strand is placed within a buffer solution

Four different buffer solutions, each containing one of the four base dideoxyribonucleotide, adenine, thymine, guanine or cytosine

Gel electrophoresis is used to reorder the fragments from longest to shortest
DNA sequencing is important to better our understanding of the human body

helps us to understand genetic diseases, cancer etc.
helps us to find mutations in our genes which can cause genetic diseases
Full transcript