Download Unit 2 MI Study Guide

Unit 2 MI Study Guide
Name: _____________________________________
Part I: Matching

Match the below types of genetic disorders to their descriptions:
1. Single Gene Disorders
a. caused by changes or mutations in the DNA sequence of one gene which
results in the production of a non-functional protein
2. Multifactorial Disorders
b. caused by a combination of environmental factors and mutations in multiple
genes which results in many of the most common chronic illnesses
3. Chromosomal Disorders
c. caused when there are missing or extra copies of genes, or breaks, deletions
or rejoining of chromosomes
4. Mitochondrial Disorders

d. caused by mutations in non-chromosomal DNA which is passed from mother
to child
Match the components of PCR to their functions:
5. Taq Polymerase
a. designed to correspond to the start and end of the target DNA being amplified
6. Primers
b. a thermostable enzyme used to extend the DNA
7. dNTPs
c. free deoxyribonucleotides needed for extension
8. Buffer
d. a solution used to incubate the reaction components

Match the below steps of genetic testing to their descriptions:
9. Gel electrophoresis
a. polymerase chain reaction
10. Restriction Analysis
b. separation of DNA fragments based on molecular weight
11. Amplifying DNA
c. recognition of SNP’s and cutting of DNA
12. Isolation DNA
d. extraction of cells
---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------Part II: Multiple Choice Examples
13. DNA was compared between two people. The comparison revealed the presence of a T instead of an A at one
location. What can be said about the two DNA segments?
A. They contain a SNP.
B. They are the same allele.
C. They are not useful for genetic analysis.
D. They will not show an RFLP.
14. A person does not show any signs of having a disorder that runs in their family. What is the best way to determine
if this person is heterozygous for this disorder?
A. cloning
B. carrier screening
C. fetal screening
D. CVS
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15. Which lane has gone through the most cycles of PCR in the gel
electrophoresis figure to the right?
a.
b.
c.
d.
e.
Lane 1
Lane 2
Lane 3
Lane 4
You cannot tell from this gel
16. If a restriction enzyme were to cut a strand of human DNA three times, how many RFLPs would show up on a gel
after gel electrophoresis?
a. Five
b. Four
c. Three
d. Two
e. One
17. A woman is pregnant with her third child. Her doctor is concerned that the fetus may have an extra
chromosome. What would be the best method to determine if this is true?
A. make a pedigree
B. perform RFLP
C. make a karyotype
D. perform PCR
18. A disorder runs in a family. The disorder appears to be passed down from mother to daughter very frequently.
This information suggests the disease is _____.
A. a mitochondrial disorder
B. due to a dominant gene mutation
C. due to a single gene mutation
D. is multifactorial
19. Taq polymerase is used in PCR because it _______.
a. Replicates human DNA exclusively
b. Catalyzes primer formation
b. is heat stable
d. will denature the DNA.
---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------Part III: Short Answer
20.
What is the purpose of PCR? List the steps and what occurs during each step.
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21. The ability to dance is determined by a SNP that can be detected using a restriction enzyme. The enzyme is called
JazzII, and it identifies the following sequence: AATT. It makes a blunt cut in the middle of the sequence as seen
below:
AA TT
TT AA
a. Review the two restriction sequences below and make any necessary cuts that would occur after the
addition of JazzII:
ATGGCAATTGGCC
ATGGCACTTGGCC
TACCGTTAACCGG
TACCGTGAACCGG
Dancer (DD)
No Rhythm (dd)
b. Interpret the electrophoresis gel and fill-in the blanks in below:
Lane 1: Represents:_______________________________
Gel Electrophoresis Results after being treated with
JazzII
Lane 1
Lane 2
Lane 3
Lane 2: Genotype:________________
Phenotype:__________________________________
Lane 3: Genotype:________________
Phenotype:__________________________________
22. Differentiate between reproductive cloning and therapeutic cloning.
23. Explain the difference between amniocentesis and chorionic villus sampling (CVS). Be sure to include details
(how each test is performed, what is tested, when it can by tested, why the test is used).
Unit 2 Study Guide, Pg. 3 of 4
24. Cystic Fibrosis is caused by a mutation in a gene on Chromosome 7. The gene codes for a transport protein that
allows chloride ions across epithelial cells inside the lungs. An error in the gene causes the transport proteins to not
function properly, causing a buildup of mucus in the lungs. The lung tissue is the target tissue for gene therapy. Lung
tissue divides slowly or not at all. What gene therapy vector would you choose to use to treat cystic fibrosis and why
would that vector be the best choice?
25. Using the information from the chart below, evaluate the following scenario:
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
Vector B
Vector C
8000
5000
20,000
Will integrate into host
genome
Will not cause an immune
response
Integrates into a wide variety of cells Integrates specifically into the
in the body..
cells of the nervous system.
Will not disrupt host genome during
integration.
May disrupt other genes when Will not cause an immune response.
integrating
Will not disrupt other genes
when integrating.
Can cause an immune
response
Which vector would be the WORST choice for gene therapy? ____________
Explain why you chose this vector:
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