Download Variant - NC DNA Day

Genomics and
Inheritance
What is DNA?
What is DNA Day?
What is DNA Day?
April 1953
Drs. James Watson and
Francis Crick determined
the structure of DNA
(double helix)
What is DNA Day?
April 1953
April 2003
Drs. James Watson and
Francis Crick determined
the structure of DNA
(double helix)
Human Genome Project
determined the entire DNA
sequence of a human
(3 billion letters)
A Genome is an entire set of an
organism’s DNA
• 23 pairs of
chromosomes
J Craig Venter Institute
The Human Genome
A Genome is an entire set of an
organism’s DNA
• 23 pairs of
chromosomes
Mother
Father
• One from your
mother, one from
your father
J Craig Venter Institute
The Human Genome
A Genome is an entire set of an
organism’s DNA
Cell
J Craig Venter Institute
The Human Genome
DNA holds instructions for the cell
DeoxyriboNucleic Acid (DNA) contains all the information
necessary to make a complete organism
DNA is composed of a combination of 4 nucleotides
DNA holds instructions for the cell
DeoxyriboNucleic Acid (DNA) contains all the information
necessary to make a complete organism
DNA is composed of a combination of 4 nucleotides
A
Adenine
DNA holds instructions for the cell
DeoxyriboNucleic Acid (DNA) contains all the information
necessary to make a complete organism
DNA is composed of a combination of 4 nucleotides
A
T
Adenine
Thymine
DNA holds instructions for the cell
DeoxyriboNucleic Acid (DNA) contains all the information
necessary to make a complete organism
DNA is composed of a combination of 4 nucleotides
A
T
C
Adenine
Thymine
Cytosine
DNA holds instructions for the cell
DeoxyriboNucleic Acid (DNA) contains all the information
necessary to make a complete organism
DNA is composed of a combination of 4 nucleotides
A
T
C
G
Adenine
Thymine
Cytosine
Guanine
DNA holds instructions for the cell
DeoxyriboNucleic Acid (DNA) contains all the information
necessary to make a complete organism
A pairs with T
Adenine Thymine
C pairs with G
Cytosine Guanine
DNA holds instructions for the cell
DeoxyriboNucleic Acid (DNA) contains all the information
necessary to make a complete organism
A pairs with T
Adenine Thymine
C pairs with G
Cytosine Guanine
Which is how DNA forms a double helix.
Base Pair
The genome is like a cookbook for the cell
A
T
C
G
Nucleotides
Letters
The genome is like a cookbook for the cell
A
T
C
G
Nucleotides
Letters
Gene
Recipe
A sequence of nucleotides composes a gene.
The genome is like a cookbook for the cell
A
T
C
G
Nucleotides
Letters
Gene
Recipe
A sequence of nucleotides composes a gene.
Gene
Genome
Cell
Billions of nucleotides are packaged into chromosomes.
Cookbook
Nucleotide Sequence
Refresher: What are each of these?
Refresher: What are each of these?
Cell
Genes
Chromosome
Genome
Nucleotides
DNA
No two genomes are the same
Individuals differ at about .1% of their nucleotides.
Variant
Variant - A position in the genome
where individuals have different
nucleotides
Broad Institute
No two genomes are the same
Individuals differ at about .1% of their nucleotides.
.1%
Variant - A position in the genome
where individuals have different
nucleotides
3 million variants
3 billion nucleotides
No two genomes are the same
Individuals differ at about .1% of their nucleotides.
Variant - A position in the genome
where individuals have different
nucleotides
.1%
3 million variants
3 billion nucleotides
A
G
C
T
A
G
C
T
1
2
……………………………..
A
G
C
T
3 million
4 choices at 3 million places  43million unique genomes
Actually, some genomes are the same
Identical twins have the same genome.
Actually, some genomes are the same
A fertilized egg splits into two identical zygotes early on.
The zygotes develop into
individuals with identical
genomes.
Actually, some genomes are the same
Clones have the same genome.
Actually, some genomes are the same
To clone an animal you need a body cell and an egg cell.
Body cell
Egg cell
bbc.co.uk
Actually, some genomes are the same
Replace the genome of the egg cell with that of the cell to be
cloned.
Body cell
Extract
genome
Replace egg
cell’s genome
Egg cell
bbc.co.uk
Remove genome
Actually, some genomes are the same
Place the dividing egg cell into the uterus of a foster mother.
Body cell
Place egg into
foster mother
Extract
genome
Replace egg
cell’s genome
Clone of
sheep A
Egg cell
bbc.co.uk
Remove genome
Your list of variants is your genotype
Example chromosome
Variants
.
G
T
T
.…..
…
A
C
A
Maternal
Your list of variants is your genotype
Example chromosome
Variants
T
T
C
.
.
G
T
T
A
G
…
.…..
A
A
…
.…..
A
C
Maternal
Variants
Paternal
Your list of variants is your genotype
Example chromosome
Variants
T
T
C
.
.
G
T
T
A
G
…
.…..
A
A
…
.…..
A
C
Maternal
Variants
Paternal
Genotype
G
T
T
A
C
A
M
T
T
C
A
A
G
P
Genotype – The variant nucleotides on both maternal and paternal
chromosomes. Your genotype is unique.
Genomic variants result in unique
individuals
Big genomic variations allow for many
different forms of life
Variations in the DNA of different individuals
can cause changes in physical appearance
or can even cause disease.
Variants can result in disease
The A variant at position 5,248,232 on chromosome 11 causes
Sickle Cell Anemia.
…GAG…
…CTC…
Variants can result in disease
The A variant at position 5,248,232 on chromosome 11 causes
Sickle Cell Anemia.
…GAG…
…CTC…
…GTG…
…CAC…
Variant
Variants can result in disease
University of Michigan
The A variant at position 5,248,232 on chromosome 11 causes
Sickle Cell Anemia.
…GAG…
…CTC…
…GTG…
…CAC…
Variant
Normal
Disease
Normal red blood cell
Sickle-shaped
diseased red blood cell
Variants can result in disease
Genotypes observed
A A
A T
T T
Variants can result in disease
Genotypes observed
A A
A T
T T
Normal
Mostly Normal
Sickle Cell Anemia
micro-scopic.tumblr.com
microscopyu.com
http://legacy.owensboro.kctcs.edu/
Variant correlated to disease
Sickle Cell
count
A A
micro-scopic.tumblr.com
A T
T T
microscopyu.com
Genotype
http://legacy.owensboro.kctcs.edu/
Variant correlated to disease
Sickle Cell
count
A A
A T
T T
Genotype
Variant correlated to disease
Sickle Cell
count
steep slope = correlation
A A
A T
T T
Genotype
Variant not correlated to disease
The Sickle Cell A/T variant is the only variant correlated to the
disease.
Any other variant is not be correlated. For example:
C/A variant
Chr11:119,553,795
Variant not correlated to disease
The Sickle Cell A/T variant is the only variant correlated to the
disease.
Any other variant is not be correlated. For example:
C/A variant
Chr11:119,553,795
Sickle Cell
count
C C
C A
A A
Genotype
Variant not correlated to disease
The Sickle Cell A/T variant is the only variant correlated to the
disease.
Any other variant will not be correlated. For example:
C/A variant
Chr11:119,553,795
Sickle Cell
count
no slope = no correlation
C C
C A
A A
Genotype
Genome Wide Association Studies find
variants correlated to disease
Disease
Correlated
AA
AT
TT Genotype
Disease
Not Correlated
CC
CA
AA Genotype
Genome Wide Association Studies find
variants correlated to disease
1. Pick a disease to test
2. Find individuals with and without the disease
Disease
No Disease
Genome Wide Association Studies find
variants correlated to disease
3. Get genotypes of the individuals
4. Test variants for their correlation to disease
Disease
Disease
or
AA
AT
TT
Genotype
CC CA
AA
Genotype
Please PAUSE
and take a
moment
to complete
the activity
Every cell in your body has the same
genome, except…
If you are a mosaic or a chimera, some cells in your body
carry a different genome.
Every cell in your body has the same
genome, except…
If you are a mosaic or a chimera, some cells in your body
carry a different genome.
© Garland Science
About the Scientist:
• What do I study?
• Why do I love science?
• Questions?
Join us for the 1st annual NC DNA Day science festival to learn more about the
biological and biomedical research going on in the state!
May 18, 2013
UNC Student Union Great Hall
10am-12pm
Register to attend
The classroom with the most attendees
will win a pizza party!
Science Art Contest
Create a painting, drawing or 3D model that
embodies biomedical sciences. Prizes will
be awarded! See website for more info.
ncdnaday.org/festival
Run to Support Science Outreach and Education in NC
9:00 AM | Saturday, May 18th 2013
Run Through UNC Chapel Hill Campus
ncdnaday.org/5K