Darius Goes West
A study of Human Genetics and Disease
Day 1
Why do I look the way I
do?
[Link]
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Its all in your genes (not jeans
)
Inside
the nucleus of every cell of
an organism are structures called
chromosomes.
DNA
Chromosomes
are
made of tightly coiled
DNA (deoxyribonucleic
acid) molecules.
DNA
is the master copy
of an organisms code
When
mitosis takes
place, DNA is copied
and passed to new cells
DNA
controls the
activities of cells
Every
cell contains DNA
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Genes
Genes
are sections of
DNA.
Genes control the
production of proteins
in the cells.
Proteins determine
the traits of an
organism.
Humans have 23
pairs of
chromosomes for a
total of 46 (do the
math)
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What are genes? - video
Day 2
(Label diagram as review from Day 1)
Day 2
Normal DNA Structure
DNA is in the shape of a
double helix. twisted
ladder
The handrails of the
ladder are two twisted
strands of sugar and
phosphate molecules
(handrails)
Stairs of the ladder are
made up of molecules
called nitrogen bases
4 kinds of nitrogen bases
including adenine,
guanine, cytosine, and
thymine
Normal DNA Structure
Nitrogen
Base Pairs:
Adenine only pairs
with thymine
Guanine only pairs
with cytosine
Build
a DNA model:
Day 3
What disease does
Darius have?
How did Darius get this
disease?
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Where did my traits come from?
Each human sex cell has 23 chromosomes. When
they join, the offspring (you) has 23 pairs, from
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BUT..
All
of my family members have
brown eyes, mine are blue
My new baby sister has red hair,
the rest of us have brown
hair.
My mom and dad are right
handed, I am left handed
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Lets remember Mendel and the
pea [Link]
Mendels
research
revealed that every
offspring receives one
allele (form of a gene) for
a trait from each parent.
These alleles can be
dominant or recessive.
A dominant alleles trait
always shows up when it
is present. It is
represented by a capital
letter.
A recessive allele
remains hidden as long as
the dominant allele is
there. It is represented by
a lower case letter.
If
an organism has 2
identical alleles, such
as 2 dominant (TT) or 2
recessive (tt), it is said
to be homozygous for
that trait.
If an organism has 2
different alleles, 1
dominant and 1
recessive (Tt), it is said
to be heterozygous
for that trait.
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Human inheritance
A
number of human traits are
controlled by a single gene with 2
alleles (one from each parent)
The Punnett square can be used
to predict the probability that an
offspring will have a specific trait.
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Mom and Dad both have brown eyes (B), but they
both carry the recessive allele for blue eyes (b).
Could their offspring have blue eyes?
Complete the square to find out
Dad
B
b
Mom
Whats the probability of the offspring having
brown eyes? Blue eyes?
Are mom and dad homozygous or
heterozygous for eye color?
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How is gender
determined?
Chromosome
pair #23 are the
sex
chromosomes.
They are the
only pair that do
not match.
A girl has 2, X
chromosomes
A boy has an X
and a Y
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Boy or girl? The answer is in
the Punnett square
What is the probability that the
offspring will be a girl? A boy?
Video
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DNA Mutations
A
mutation is a change in the
DNA sequence of a gene.
Mutations can be
1. Acquired when an environmental
factor damages DNA.
2. Inherited from parents
Some
are harmless, others can
cause disorders/diseases
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Harmless DNA mutations
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Genetic Disorders
A
genetic disorder is an abnormal condition that a
person inherits through genes or chromosomes.
Just
like physical traits, genetic disorders can also
be passed from parent to offspring.
Genetic
disorders can be caused by
1. Mutations in the DNA of genes
2. Changes in the structure of
chromosomes
3. Changes in the number of
chromosomes
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Recessive disorders
Passed
from
parents to
offspring when
both parents are
carriers of the
disorder.
Parents may not
know they are
carriers
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Recessive Disorders
Cystic
Fibrosis - body produces abnormally
thick mucus that fills the lungs and makes
it difficult to breathe.
Sickle
Cell Anemia - red blood cells are
sickle-shaped instead of disc-shaped. Cells
cant deliver enough oxygen and clog blood
vessels
Tay
Sachs Disease fatty proteins build up
in the brain destroying nerve cells in the
brain and spinal cord.
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Sex-linked recessive disorders
Inherited
conditions that are linked with
X and Y chromosomes
Hemophilia Blood clots very slowly or not at
all. Occurs more frequently in males
Duchenne Muscular Dystrophy progressive
loss of muscle strength that eventually
affects the heart and lungs. It caused by a
lack of the protein, dystrophin. Occurs more
frequently in males.
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How Darius acquired DMD
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Chromosomal Disorders
Downs
Syndrome is an example
of a chromosomal disorder
A person with Downs syndrome
has an extra copy of chromosome
21.
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Genetic Testing
Today,
medical advances have developed
screening tests for many genetic disorders.
Questions
to ponder.
Should couples who might pass along a genetic
disorder to children be tested to decide whether
or not to have such children?
Should people be tested for genes for a future
disorder if there is no cure available for the
disorder?
Could someone be discriminated against by
employers or health insurance companies if they
had knowledge of the existence of a disorder?
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