Q3 Flashcards
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
A single base-pair point mutation (GAG to GTG) results in Glutamic Acid (hydrophilic) to Valine (hydrophobic) in 6th position of B-chain of hemoglobin (hemoglobin S, HbS)
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 phenotype
Single-base deletion at the ABO (glycosyltransferase) locus leading to a frameshift mutation
A point mutation can greatly affect a geneâs product if it alters a site where introns are normally removed from the mRNA. This is called a _____ mutation.
splice-site
Thymine and cytosine dimerization 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.
X-rays
Benzene is an example of ____ mutagen instead of radiation and biologic.
chemical
BONUS: All of the mutations in 22-25 are examples of _____ mutations
Point
BONUS: 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
BONUS: Which biological agent type is implicated in cases of t8;14?
Virus (Burkiitâs Epstein-Barr Virus)
BONUS: This mutagen used to label cells are like thymine but can pair up with either Adenine or Guanine which causes inconsistent DNA replication.
Bromouridine
BONUS: 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
BONUS _______ 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 (HbB+ with a decreased amount of normal B-globin protein) results in HbSB+-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.) Hypermorphically
c.) Hypmorphically
d.) Ectopically
d.) Ectopically