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Autozome
X vs Y
Bully Alleles
What’s in your
jeans?
Do you need
Therapy?
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These only are expressed in the
homozygous form.
What is a recessive allele?
200
What is an example of epistasis
in humans?
What is a albinism?
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What is PKU?
Phenylketonuria
This causes mental retardation due to
a build of proteins.
400
What is cystic fibrosis? What is the
cause? What kind of gene is this?
Excess mucus is made in the lungs,
digestive system, liver, etc. The
protein channel to remove chlorine is
incorrect. It shows peleiotropy.
500
What is Ellis-van Creveld
Syndrome?
It causes polydactylism and
dwarfism. It is recessive and an
example of founder’s effect.
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Who determines the sex of
a child? Explain.
The male determines the sex. He
carries the X and Y chromosome.
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What is hemophilia? Who has
it more? Why?
Hemophilia is the bleeder’s disease
caused by a missing AHF protein.
Men have it more. It is carried on
the X chromosome.
What is this called? What
disorder does it show? Is it a male or
female?
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What is a karyotype? It shows a
woman’s chromosomes with
Turner’s syndrome.
What is trisomy 21? What is
another name for it? What problems
do people with this disorder have?
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People with trisomy have three #21
chromosomes. It is also called
Down’s Syndrome. Problems
include mental disabilities, short
stature, organ problems.
Describe why barr bodies form.
Who has them? How does this
effect cat fur color?
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Barr Bodies form from an
inactivated X chromosome. One X
in every female body cell is turned
off. Calico cats are always female
because of this. Different folicle
cells have a different X turned off.
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When are dominant allele
disorders expressed?
They are expressed in both the
heterozygous and homozygous
dominant form.
Discuss Huntington’s disease.
Tell the symptoms, treatment and
cause.
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Huntington’s is caused by CAG
repeats. The nervous system breaks
down over time and death occurs.
There is no successful treatment.
Name and describe the
three genotypes for red
blood cell formation.
Which one expresses a
disease?
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NN, NS, SS
normal, codominant, sickle
Sickle cell has diseased RBC
Describe the relationship between
Malaria and sickle cell? Why does
this occur?
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People with the heterozygous form
of sickle cell are somewhat resistant
to malaria. The parasite has trouble
infecting the RBC which are sickle
shaped. It is a genetic anti-malarial
disease.
Do a punnett square on the board
showing how two people with
Achondroplasia can have “normal”
children. Explain your results and tell
what this disease is.
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A= disorder
a= normal
A
a
A
AA
Aa
a
Aa
aa
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How are karyotypes made?
Cells are “frozen” in prophase one of
mitosis and a photograph is taken of
the chromosomes. The
chromosomes are magnified and cut
out and arranged with their
homologue according to size.
What is the difference between
autosome and sex chromosomes? How
many do people have of each?
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Autosomes are non-sex
chromosomes. Human have 44
autosomes and 2 sex chromosomes.
A woman with type O blood
marries a man with type AB
blood type. Show a punnett
square with possible blood types
for their children. What
antibodies and antigens do they
each have?
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0= ii no antigen antibodies A and B
AB= IAIB antigen A and B no
antibodies
Children type and A and B only.
What is the difference between
continuous variation and
discontinuous variation? Give one
example of each.
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Discontinuous- two categories for
dominant and recessive phenotypes
(pea plant height)
Continuous variation- many genes are
responsible for variation in phenotypes
(human height)
What can happen to a mother
is a + RH baby is carried by a –
RH mother?
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Nothing will happen with the first
pregnancy. The mother’s antibodies
can attack the 2nd baby causing
severe problems or death for the
baby. A shot is given after the first
pregnancy to inhibit antibody
production in the negative mother.
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What is a DNA fingerprint?
It is the “mapping” of your
DNA repeats unique to you.
What did the Human genome
project do?
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It sequenced all human DNA. We
know the order of all the bases.
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Describe the steps in gene
therapy.
The gene and DNA sequence that
causes the disease is identified. The
correct DNA is produced or found.
A correct sequence of DNA is put
into the organism using a virus
vector.
What is electrophoresis?
Describe in detail what happens
and how it is used.
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Electrophoresis separates DNA
according to lengths. Shorter DNA
segments move farther through the
gel due to - electrical charge. It can
be used in paternity tests,
identification, crime scene analysis.
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How is allele testing done? Be
complete.
The DNA segment for the disease
being tested is cut using restriction
enzymes. Electrophoresis is done to
separate DNA pieces. The migration
banding pattern of the DNA is
compared to a normal set of DNA
for the disease.