Download BIO 208 Worksheet for Exam 4

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BIO 208 Worksheet Exam 4
The review is not comprehensive
2009
1. Fill in the correct number:
a. ______ chromosomes in a human somatic cell
b. ______ human genomes in a single human cell
c. ______ types of transitions that can occur
d. ______ oligonucleotides that can be spotted on to a gene chip
e. ______ approximate number of cells in a blastocyst
f. ______ number of cells in a fertilized egg
g. ______ number of cells resulting from normal mitosis
h. ______ nucleotide bases in the human genome
i. ______ types of transversions that can occur
j. ______ chromosomes in an enucleate egg
k. ______mutations in the beta globin gene that cause sickle cell disease
l. ______ oligonucleotides spotted on a microarray
2. Match the mutation with the best answer A – J.
_________ occurs in sperm or egg
_________ occurs due to no particular agent
_________ occurs due to chemical or environment
_________ does not result in an amino acid change
_________ causes the protein to be too short
_________ shifts the reading frame of the message
_________ involves one DNA base only
_________ heritable change in DNA
3.
A. point mutation
B. any mutation
C. spontaneous mutation
D. frameshift mutation
E. induced mutation
F. silent mutation
G. germinal mutation
H. nonsense mutation
Compare sequences # 1 and #2. Characterize each mutation (there are 4) as to position in the
codon(1st, 2nd, or 3rd) and whether it is a transition (TS) or transversion (TV)
Sequence #1
Sequence #2 (mutant)
ATG GGA CCT ACA TAT GCC
ATG GCA TTT ACA TAA GCC
4. Characterize the mutations (a – e) using the following terms:
Deletion
Nonsense mutation
a. TTC CAG AAA 
Point mutation
Frameshift mutation
TTC CAG CAG CAG CAG CAG CAG CAG CAG AAA
b. ACT TTT GTT AAT 
c.
Missense mutation
Trinucleotide Repeat
ACT GTT AAT
AUG CAG AUU AAC GCU GCA UAA  AUG AGA UUA ACG CUG CAU
met gln
ile
asn
ala
ala
stop
d. AUG CAG UCA AAC GCU GCA 
met gln ile asn
ala ala
e. AUG GAC UCA GCU 
met gln
ile
asn
AUG
met
met
arg
leu
AUG CAG UAA
met gln stop
CAC
his
UCA
ile
GCU
asn
thr
leu
his
2
5. What do the following acronyms stand for?
BRCA1
SCNT
ES
UV
SNP
XP
TS and TV
RB
DNA
6. Are the following associated with SNP or a gene (choose one for each) ?
a.
b.
c.
d.
e.
f.
g.
h.
i.
j.
k.
7.
90% of all human genetic variation
____________
20,000 estimated in human genome
____________
3 million estimated in human genome
____________
always coding DNA
____________
often used in forensics
____________
contains introns and exons
____________
transcribed as a unit of mRNA
____________
may not be responsible for disease but may be used as a genetic marker ______________
polymorphism
_____________
contains a promoter
_____________
one causes sickle cell disease
_____________
Fill in the disease
Breast cancer
Sickle cell disease
Xeroderma pigmentosum
a.
b.
c.
d.
e.
f.
g.
h.
i.
j.
k.
Colon cancer
SARS
Retinoblastoma
extreme sensitivity to UV light
________________________
results from an SNP in 6th codon of beta globin gene ______________________
infectious viral disease of the respiratory system
________________________
childhood cancer of the retina
________________________
causative agent found by microarray analysis
________________________
cannot be not inherited
________________________
misshapen red blood cells block capillaries
________________________
mutation in a tumor suppressor gene
________________________
mutation in DNA repair pathway
________________________
involves mutation in p53 gene _______________________, ________________________
polyp type tumor forms
________________________
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8. Fill in using the appropriate letter
A. Human Genome Project D. Pharmacogenomics
G. DNA polymorphism
B. Genetic predisposition E. Non-genetic factors
H. Personalized medicine
C. Oligonucleotide probe F. Presymptomatic testing
______the study of how an individual’s genetic inheritance affects the body’s response to drugs
______the ability to target a specific drug and dose to those individuals most likely to benefit
______An allele which may predispose an individual to a developing a particular disease
______A microarray test to test a person for disease before the development of noticeable disease symptoms
______Short single stranded DNA oligonucleotide complementary to sequence of interest
______Governmental and private effort to determine the sequence of 3 billion nucleotides of human DNA
______A small genetic change, or variation, that can occur within a person's DNA sequence
______Behavior, lifestyle, diet, physical activity that influence gene expression and disease progression
9. Therapeutic or reproductive cloning or both?
a. An organism is produced
b. Has been conducted in cows, pigs, mice, cats, and sheep
c. May be used to obtain cells to treat disease
d. Uses an enucleate egg
e. Does not use sperm
f. Involves manipulation of a blastocyst
g. Involves implantation of a blastocyst
h. Fuses a somatic cell nucleus with an enucleate egg
i. Needs a surrogate mother for success
j. May result in large offspring syndrome
k. Produces embryonic stem cells
l. Creates animal models to study human disease
m. Illegal
n. Isolates pluripotent cells
 over
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Cancer worksheet
1. Fill in
Benign
Tumor suppressor protein Sporadic cancer
Chromosome 13
Apoptosis
Metastasis
Familial cancer
Chromosome 17
Oncogene
Angiogenesis
DNA repair protein Proto-oncogene
a. _____________ A tumor releases a molecule that interacts with a blood vessel and promotes vascularization
b. ______________A childhood eye cancer is initiated when two alleles of the RB gene are mutated after birth
c. _____________________________ Location of the BRCA 1 gene
d. _____________________________ A cancer forms in a connective capsule and is excised easily
e. _____________________________ A gene encodes a normal protein involved in cellular growth
f. ________________________ A cell suffers DNA damage that is irreparable and is this pathway is initiated
g. _____________________________ An individual inherits one mutated allele and one normal allele of a
tumor suppressor gene. The normal allele suffers a mutation sometime after birth and carcinogenesis is initiated
h. _____________________________ A child with xeroderma pigmentosum develops a number of malignant
melanomas when this molecule is inactive
i. _____________________________ Location of the RB gene
j. _____________________________ The type of protein encoded by the RB, BRCA1, and TP53 genes
k. _______________ Movement of cancer cell from primary tumor through bloodstream to secondary location
l. _____________________________ A normal gene involved in cellular growth is mutated to this form
2. Discuss the following cellular situations
The cell cycle occurs too rapidly
A DNA repair enzyme gene is mutated
A tumor suppressor is overproduced
A growth factor receptor is overproduced
A cellular checkpoint is missed
A mutation in a growth factor gene causes too little growth factor to be produced
Angiogenesis is blocked
Apoptosis does not occur in an abnormal cell
Normal mitosis occurs
A cell becomes transformed
The RB gene promoter is nonfunctional due to a mutation
A knockout mouse has 2 copies of a non-functional p53 gene
A mouse is born with 1 functional copy of the p53 gene
3. Identify the appropriate cancer(s): Breast cancer
Colon cancer
a. affects mammary tissue
b. can be detected by colonoscopy
c. pRB
d. BRCA-1
e. both alleles of a tumor suppressor gene are mutated
f. may metastasize if not removed early
g. polyps may form
h. may inherit a predisposition (one mutant allele of a particular gene)
i. usually occurs in children
j. normal cell protein involved in eye development
k. May also involve mutations in p53 gene
l. Sporadic and familial forms
m. Sometimes diet related
n. Tumor excision may cure cancer
Retinoblastoma