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
Cytosines in ______ dinucleotides can be methylated to form 5-methylcytosines by enzymes that add a methyl group are called DNA methyltrasnferases. 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 statement is false
b.) First statement is false; second statement 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
Mutation changes the regulation of the gene so that the gene product is overproduced.
a.) Leaky mutations
b.) Hypermorphic mutation
c.) Ectopic expression
d.) Null mutation
b.) Hypermorphic mutation
All of the following are true of genetic mutation, except:
a.) Effects of mutation may be controlled under certain conditions
b.) Genetic mutation may have no effect to an individual at all
c.) Mutations may cause a cell to produce substances it does not normally produce
d.) All statements are true
d.) All statements are true
The most common type of mutation based on molecular change
a.) Substitution
b.) Deletion
c.) Insertion
d.) Duplication
a.) Substitution
If the sequence mutated and the thymine from 3â was substituted by adenine, this type of substitution is:
a.) Transversion
b.) Transmission
c.) Transition
d.) Transduction
a.) Transversion
Which of the following sequences had a transversion type of substitution?
a.) 3â-GCTATACGCTCGGâŚ..-5â
b.) 3â-GCTATGCGCTAGGâŚ.-5â
c.) 3â-GCTATACGCTAAGâŚ.-5â
d.) 3â-GCTATACGGTAGGâŚ.-5â
A & D
A genetic mutation caused by a deletion or insertion (INDELS) in a DNA sequence that shifts the way the sequence is read.
a.) Frame shift
b.) Base pair drift
c.) Transversion
d.) Anti-codon mutation
a.) Frame shift
Cystic fibrosis is due to the three-base deletion resulting in a protein that lacks amino acid 508. Which of the following is the amino acid?
a.) A branched-chain one
b.) A circular nonpolar side-chained one
c.) An aromatic side-chained one
d.) A charged one
c.) An aromatic side-chained one
Consider the mRNA sequence: AUG GGG GCC AAA AGU AAG CGC GAU UAG
Which of the following may occur if a deletion occurs, resulting in AUG GGG GCC A AAG UAA GCG CGA A AUG?
a.) In-frame deletion of one or more amino acid/s
b.) May cause stability of protein
c.) Likely to result to premature termination
d.) All of the above
a.) In-frame deletion of one or more amino acid/s
If the wild type sequence of the coding strand is 5â-ATG/AAG/TGC/TTC/TGC/GAG-3â, then which of the following sequences shows a missense mutation?
a.) 5â-ATG/AAG/TGC/TTC/TGC/GAG-3â
b.) 5â-ATG/AAG/TGC/TTC/TGA/GAG-3â
c.) 5â-ATG/AAG/CGC/TTC/TGC/GAG-3â
d.) 5â-ATG/AGC/GCT/TCT/GCG/AG-3â
b.) 5â-ATG/AAG/TGC/TTC/TGA/GAG-3 - transversion
Which of the following diseases is caused by an inherited single-gene dominant disorder caused by the abnormal expansion of CAG repeats in the gene coding for the affected protein?
a.) Huntingtonâs Disease
b.) Duchenne Muscular Dystrophy
c.) Cystic Fibrosis
d.) Marfanâs Syndrome
a.) Huntingtonâs Disease
A silent mutation occurs when there is a change in the nucleotide sequence but the original amino acid coded by that trinucleotide sequence remains the same. Hence, silent mutation is not associated with any diseases.
a.) Only the first statement is correct
b.) Only the second statement is correct
c.) None of the statements are correct
d.) Both of the statements are correct
d.) Both of the statements are correct
Sequencing of human genomes has revealed that ______ are fairly common. For example, at least 10 percent of heart defects in newborns are due to mutations not present in the parents.
a.) Inherited mutations
b.) Germline mutations
c.) Spontaneous mutations
d.) All of the above
c.) Spontaneous mutations
Normal: TTC (Lys)
TCC (Arg), TGC (Thr)
Missense
Normal: TTC (Lys)
TTT (Lys)
Silent
Normal: TTC (Lys)
ATC (STOP)
Nonsense
Normal: THE ONE BIG FLY HAD ONE RED EYE
THE ONE BIG FLY HAD ONE RED EYE
May be the case in a silent mutation
Normal: THE ONE BIG FLY HAD ONE RED EYE
THE QNE BIG FLY HAD ONE RED EYE
LDL receptor bears a mutation where a cysteine substitutes for a tyrosine, bending the receptor enough to impair its function. Causes familial hypercholesterolemia (Missense)
Normal: THE ONE BIG FLY HAD ONE RED EYE
THE ONE BIG ___________
85 percent of individuals who have Backer muscular dystrophy have shortened proteins (Nonsense, protein truncation)
Normal: THE ONE BIG FLY HAD ONE RED EYE
THE ONE QBI GL YHA DON ERE DEY
In this form of familial hypercholesterolemia, a 4-base insertion adds an amino acid and then alters the number and sequence of positively and negatively charged amino acids (Frameshift)
Normal: THE ONE BIG FLY HAD ONE RED EYE
THE ONE BIG ____ HAD ONE RED EYE
(DeltaF508) is the most frequent disease-causing mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Microdeletion)
Normal: THE ONE BIG FLY HAD ONE RED EYE
THE ONE BIG FLY WET HAD ONE RED EYE
LDL receptor bears a mutation where a cysteine substitutes for a tyrosine, bending the receptor enough to impair its function. Causes familial hypercholesterolemia (Missense)
Normal: THE ONE BIG FLY HAD ONE RED EYE
THE ONE BIG FLY FLY HAD ONE RED EYE
dupPMP22 gene in chromosome 17 of Charcot-Marie-Tooth disease Type1A
Normal: THE ONE BIG FLY HAD ONE RED EYE
THE ONE BIG FLY FLY FLY FLY HAD ONE RED EYE
The case of the formation of the huntingtin protein in Huntingtonâs disease / The long repeats seen in Fragile X Syndrome
A single base change in a DNA sequence has no alternatives and happens in 8 in 100,000 individuals; which is true of this change?
a.) the change-carrying individuals who do not show symptoms are called âunaffectedâ
b.) the change-carrying individuals who do not show symptoms are called âdiseasedâ
c.) results completely in disease
d.) has some disease correlation, as in SNPs related to diabetes
c.) results completely in disease
A single-base change in a DNA sequence has two alternatives and happens in 150* in 10,000 individuals; which is true of this change?
a.) the change-carrying individuals who do not show symptoms are called âunaffectedâ
b.) the change-carrying individuals who do not show symptoms are called âdiseasedâ
c.) results completely in disease
d.) has some disease correlation, as in SNPs related to diabetes
d.) has some disease correlation, as in SNPs related to diabetes
