Name: ________________________________
This review guide does not review
every concept on your test!
Date: ____________________Period: ______
Unit 2 MI: How to Screen What is in Your Genes Test Review Guide: 6.25 pts EC on Summative—Due Wednesday 12.9.15
2.1: Genetic Testing and Screening
1. What are the four classes/types of genetic disorder? How is each type inherited? What is an examle of each type?
2. Identify the following genotypes as either heterozygous, homozygous dominant, or homozygous recessive:
Bb ____________________
dd _______________________
CC ______________________
3. Give the phenotype of the individuals with each genotype:
Hh ____________________
DD ____________________
bb ____________________
Rr _____________________
4. Give all the genotypes of people that express the phenotype:
Trait
Hairline
Dimples
Hair Color
Face Shape
Dominant Allele
Widow’s Peak (D)
Has dimples (H)
Black (B)
Round (R)
Recessive Allele
Straight (d)
No dimples (h)
Blonde (b)
Square (r)
Black hair _____________________ Square face ____________________ Dimples _______________________
5. Separated eyebrows (T) are dominant to connected eyebrows (t).
A male who is homozygous dominant mates with a female who is heterozygous.
The woman gives birth to a child with connected eyebrows. The man immediately
files for divorce because he claims the child can’t be his. Is he correct? EXPLAIN
6. What type/class of genetic disorder does this person have? __________________________
What is the person’s sex/gender? __________________________
What is the correct karyotype nomenclature for this person? _____________
7. Complete the pedigree with the correct genotypes. How is this disorder
inherited? What does that mean?
8. What are the steps of PCR? What happens during each step? What temperature
9. What tests (and in what order) should be conducted to determine a patient’s single nucleotide polymorphisms (SNPs)?
10. The ability to dance is determined by a SNP that can be detected using a restriction enzyme. The
enzyme is called CoerII, and it identifies the following sequence: AATT. It makes a blunt cut
between the A and T, AA I TT. Review the two restriction sequences below and make any
necessary cuts that would occur after the addition of CoerII. *Not all of the gene is copied below
ATGGCAATTGGCC
TACCGTTAACCGG
Dancer (D)
ATGGCACTTGGCC
TACCGTGAACCGG
No Rhythm (d)
What is the phenotype of the person in lane 2?
What is the genotype of the person in lane 3?
How many base pairs is the gene that determines your dancing ability ?
11. What are two medical interventions that exist regarding pregnancy? Describe them.
12. Differentiate amniocentesis, CVS (chorionic villus sampling), and PGD (preimplantation genetic diagnosis).
13. What is nondisjunction? Why does it occur? What type of genetic disorder does it cause?
2.2: Our Genetic Future
14. What is sex selection? How can you ‘ensure’ you have a female child?
15. What is the procedure for reproductive cloning?
16. Differentiate gene, reproductive, and therapeutic cloning.
17. What is gene therapy? How might gene therapy open the door to genetic enhancement?
18. How can a vector transfer DNA into human cells? What are the vectors we learned about?
19. You have a patient that has come to you for gene therapy. The gene that is faulty is 10,254 base pairs long and is
activated within the cells of the nervous system.
Viral Vector
Max base pairs
Properties
Vector A
8000
Will integrate into host genome
Will not cause an immune
response
May disrupt other genes when
integrating
Vector B
5000
Integrates into a wide variety of
cells in the body.
Will not disrupt host genome
during integration.
Will not cause an immune
response.
Vector C
20,000
Integrates specifically into the
cells of the nervous system.
Will not disrupt other genes
when integrating.
Can cause an immune response
Which vector would be the worst choice for gene therapy? Why?
Which vector would be the best choice for gene therapy? Why?


















Unit 2 MI: How to Screen What is in Your Genes Test Study Guide—Test Thursday December 10th, 2015 (36 MC, 4 SA)
What is genetic testing? What is the role of a genetic counselor? (1 MC)
What are the four types/classes of genetic disorders? How is each type inherited? What are examples of each? (4 MC, SA)
What is a karyotype? What can be learned by examining a karyotype? (1 MC)
What is genotype? What is phenotype? What is homozygous recessive/dominant and heterozygous? (1 MC)
What is a pedigree? How do you read and create a pedigree? Why are they used? (1 MC, SA)
Why are Punnett Squares useful? How do you read them and determine genotypic probabilities? (2 MC)
What is the goal of PCR? What are the steps involved in PCR? (1 MC)
How is DNA extracted? What charge does DNA have? What is supernatant? (1 MC)
What are restriction enzymes? How do they work? (2 MC)
How is gel electrophoresis performed? Which bands are longer? Where are bands located? How much DNA is present?
How do you read a gel to learn genotype and phenotype? Why are DNA standards used in gel electrophoresis? (4 MC, SA)
What are the stages of development from fertilization to birth? (1 MC)
What are common medical interventions used during pregnancy? (1 MC)
What is amniocentesis? What is chorionic villus sampling (CVS)? What are the advantages/disadvantages of each? (1 MC)
What is nondisjunction? How does nondisjunction occur? Nondisjunction is most common amongst whom? (1 MC)
What is in vitro fertilization (IVF)? How is it performed? (1 MC)
What is preimplantation genetic diagnosis (PGD)? How is it performed? How does it relate to ‘designer babies’? (2 MC)
What is gene cloning? Therapeutic? Reproductive? How is each cloning process performed? What are examples of each
process? When is each processed used? (4 MC, SA)
What is gene therapy? What are the advantages/disadvantages of gene therapy? When should it be used? (3 MC)
© 2003 University of Utah
The common cold virus.
The most famous is
Human Immunodeficiency
Virus (HIV), which causes
AIDS.
http://gslc.genetics.utah.edu
DISADVANTAGES
ADVANTAGES
+ Infects both dividing
and non-dividing cells
very effectively
+ Possible to target
specific cell types by
engineering proteins
on the virus surface
to recognize special
proteins on the target
cell’s surface
- Will not integrate
into the host cell’s
genome; the cell will
discard the virus and
gene activation will
be lost
- Can cause an
immune response
+ Infects only
dividing cells
- Integrates into
the host cell’s
genome in random
locations;
might integrate
into a place
where it disrupts
another gene - Can
cause an immune
response
7,500 base pairs
Double-stranded DNA
.
In the form of RNA
rather than DNA.
8, 000 base pairs
Maximum length
of DNA that can be
inserted into vector
How the vector
carries genetic
material
ADENOVIRUS
RETROVIRUS
- 5% chance of integrating and disrupting
the function of other genes in the cell
+ Does not cause illness in humans
+ Infects a wide range of dividing and nondividing cell types very effectively
+ Need the assistance of a “helper” virus to
replicate themselves inside cells
+ Possible to target specific cell types by
engineering proteins on the virus surface
to recognize special proteins on the target
cell’s surface
+ Integrates into the host cell’s genome;
95% of the time, it will integrate into a
specific region on Chromosome 19, greatly
reducing the chance that integration will
disrupt the function of other genes in the
cell
+ Typically will not cause an immune
response
5,000 base pairs
Single-stranded DNA
ADENO-ASSOCIATED VIRUS
Vector Types
- Can cause an
immune response in
the patient
+ Infects cells of the
nervous system
+ Will not integrate
into the host cell’s
genome, but is a
circular piece of DNA
that replicates when
the cell divides; will
stay in the cell’s
nucleus for a long
time
+ Will not disrupt
the function of other
genes in the host cell
20,000 base pairs
Single-stranded DNA
HERPES
SIMPLEX VIRUS
- Not specific for
any cell type
- Enter, cells far
less effectively
than viruses
- Will not
integrate into
the host cell’s
genome
+ Will not
generate
an immune
response
+ Better suited
for ex vivo
gene therapy
approaches
Plasmid DNA
packaged into
miniature lipid
–based pockets
that can fuse to
the cell’s own
membranes,
The DNA is
released and
transported into
the nucleus
LIPOSOME
- Not specific for
any cell type
- Enter, cells far
less effectively than
viruses
- Will not integrate
into the host cell’s
genome
- Unstable in most
body tissues
+ Will not generate
an immune
response
+ Generally not
toxic
Plasmid DNA molecule all by itself that
can be taken up
by some cells, and
transported into the
nucleus
NAKED DNA
 What is a vector? What are the six vectors
SA)
Nameused in gene therapy? When is each one used? (4 MC,
Date
*Time will be a limiting factor on the test, you need to be able to solve problems quickly – or move on and then come back*
Permission granted for classroom use.
S-1