UNIT 6 Genetic Mutations: Rationale Flashcards
(38 cards)
Which mutation according to the cell type produces two cell lines with one normal and the other with genetic mutation?
SOMATIC
In a ________ mutation, the change occurs during the DNA replication that precedes meiosis. (according to cell type)
GERMLINE
What is the classification (based on the expression of the mutation) that results in the human anemia disease caused by heterozygous inheriting a hemoglobin abnormality in RBCs that appears as one is exposed to certain conditions?
CONDITIONAL
This phenotype in the ABO system is an amorph and is seen in mutation that causes the immunodominant sugar coded by the H gene to not appear.
BOMBAY
A-point mutation can greatly affect a gene’s product if it alters a site where introns are normally removed from the mRNA. This is called a _________ mutation.
SPLICE-SITE
Thymine and cytosine are seen in ___ ray exposure in direct sunlight. They are implicated in skin cancers if polymerase cannot correct them.
UV (UV-C)
What is the most energetic ionizing radiation?
GAMMA RAYS
A missense mutation that creates an intron splicing site where there should not be one can cause ______, which removes a few contiguous amino acids from the protein product.
Exon skipping/Frameshift
______ are the major source of exposure to human-made radiation.
XRAYS
Benzene is an example of ____ mutagen instead of radiation and biologic.
CHEMICAL
All of the mutations in 22-25. are examples of _______ mutations.
Point ; Should be based on molecular change
Death does not have to occur immediately; it may take several months or even years. But if the expected longevity of an individual is significantly reduced, the mutation is considered a ______
lethal
Which biological agent type is implicated in cases of t8;14?
- Virus
- Burkitt’s EBV
This mutagen used to label cells are like thymine but can pair up with either Adenine or Guanine which causes inconsistent DNA replication.
Bromouridine
This mutagen is widely used in molecular biology to ensure the denaturation of DNA as this green fluorescing chemical binds to double-stranded DNA.
Ethidium bromide
_________ is a technique by which the genomic DNA of a cell or a model organism is perturbed, so that the expression of a specific gene is permanently prevented.
Gene Knockout
Based on effect, which of the following do not belong to the group?
a. Effect of deletion of all or part of a gene
b. Amino acid replacement that inactivates the protein
c. Nonsense mutation that improperly terminate translation
d. Over transcription of a certain gene usually present in a dominant trait
d. Over transcription of a certain gene usually present in a dominant trait
The BS allele combined with a ____________ HBB allele (Hbß+ with a decreased amount of normal ß-globin protein) results in HbSß+-thalassemia disorder, which is generally milder than sickle cell disease.
a.Amorphic
b. Hypermorphic
c. Leaky
d. Ectopic
C. Leaky
Metastatic breast cancer cells frequently and ___________
express the transcription factor RUNX2, which normally attenuates
proliferation and promotes maturation of osteoblasts but supposedly not breast cells.
a. Amorphically
b. Hxpermorphically
c. Hxemorphically
d. Ectopically
d. Ectopically
Cytosines in ________ dinucleotides can be methylated to form 5-methylcytosines by enzymes that add a methyl group are called DNA methyltransferases. Methylated cytosines often mutate to thymines.
a. Transversing
b. A-G
c. CpG
d. None of the above
c. CpG
The mutation of the p53 gene is the most common gene mutation found in cancer cells. A study has shown that p53 mutations are common in tobacco-related cancers, with a variation in the amount of G to T ____ in lung cancer from smokers and non-smokers.
A. Transitions
B. Transversions
B. Transversions
Mutations may occur even in the absence of a mutagen. Most mutations occur spontaneously.
a. First statement is true; Second is false
b. First statement is false; Second is true
c. Both statements are true
d. Both statements are false
c. Both statements are true
Which of the following is NOT true of Germ line mutation?
a. It is the most common cause of cancers
b. Occurs in egg and sperm cells
c. They are usually inherited
d. All statements are true
d. All statements are true
Mutations changes the regulation of the gene so that the gene product is overproduced.
a. Leaky mutation
b. Hypermorphic mutation
c. Ectopic expression
d. Null mutation
b. Hypermorphic mutation
