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MT 6315 (Cytogenetics) > UNIT 6 Genetic Mutations: Rationale > Flashcards

UNIT 6 Genetic Mutations: Rationale Flashcards

1
Q

Which mutation according to the cell type produces two cell lines with one normal and the other with genetic mutation?

A

SOMATIC

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2
Q

In a ________ mutation, the change occurs during the DNA replication that precedes meiosis. (according to cell type)

A

GERMLINE

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3
Q

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?

A

CONDITIONAL

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4
Q

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.

A

BOMBAY

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5
Q

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.

A

SPLICE-SITE

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6
Q

Thymine and cytosine are seen in ___ ray exposure in direct sunlight. They are implicated in skin cancers if polymerase cannot correct them.

A

UV (UV-C)

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7
Q

What is the most energetic ionizing radiation?

A

GAMMA RAYS

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8
Q

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.

A

Exon skipping/Frameshift

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9
Q

______ are the major source of exposure to human-made radiation.

A

XRAYS

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10
Q

Benzene is an example of ____ mutagen instead of radiation and biologic.

A

CHEMICAL

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11
Q

All of the mutations in 22-25. are examples of _______ mutations.

A

Point ; Should be based on molecular change

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12
Q

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 ______

A

lethal

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13
Q

Which biological agent type is implicated in cases of t8;14?

A
  • Virus
  • Burkitt’s EBV
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14
Q

This mutagen used to label cells are like thymine but can pair up with either Adenine or Guanine which causes inconsistent DNA replication.

A

Bromouridine

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15
Q

This mutagen is widely used in molecular biology to ensure the denaturation of DNA as this green fluorescing chemical binds to double-stranded DNA.

A

Ethidium bromide

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16
Q

_________ 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.

A

Gene Knockout

17
Q

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

A

d. Over transcription of a certain gene usually present in a dominant trait

18
Q

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

A

C. Leaky

19
Q

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

A

d. Ectopically

20
Q

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

A

c. CpG

21
Q

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

A

B. Transversions

22
Q

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

A

c. Both statements are true

23
Q

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

A

d. All statements are true

24
Q

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

A

b. Hypermorphic mutation

25
Q

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

A

d. All statements are true

26
Q

The most common type of mutation based on molecular change

a. Substitution
b. Deletion
c. Insertion
d. Duplication

A

a. Substitution

27
Q

consider the DNA sequence:
3’-GCTATACGCTAGG….-5’

If the sequence mutated and the thymine from 3’ was substituted by adenine, this type of substitution is:

a. Transversion
b. Transmission
c. Transition
d. Transduction

A

a. Transversion

28
Q

consider the DNA sequence:
3’-GCTATACGCTAGG….-5’

Which of the following sequences had a transversion type of substitution?

a. 3’-GCTATACGCTCGG…-5’
b.3’-GCTATGCGCTCGG…-5
c. 3’-GCTATACGCTAAG…-5
d. 3’-GCTATACGGTCGG…-5

A

a. 3’-GCTATACGCTCGG…-5’
AND
d. 3’-GCTATACGGTCGG…-5

29
Q

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

a. Frame shift

30
Q

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

A

c. An aromatic side-chained one

31
Q

Consider the mRNA sequence:
AUG GGG GCC AAA AGU UAG -bonus

Which of the following deletions may result in a frameshift?

a. AUG/GCC/AAA/AGU/UAG
b. AUG/GGG/GCC/AGU/UAG
c. AUG/GGG/AAA/AGU/UAG
d. AUG/GGG/GCA/AAG/UUAG

A

d. AUG/GGG/GCA/AAG/UUAG

32
Q

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

a. In-frame deletion of one or more amino acid/s

33
Q

If the wild type sequence of the coding strand is 5’-ATG/AAG/TGC/TTC/TGC/GAG-3’, then which of the following sequences shows a missense mutation?

a. 5’-ATG/AAG/TGC/TTC/TGC/GAG-3’
b. 5’-ATG/AAG/TGC/TTC/TGA/GAG-3’
c. 5’-ATG/AAG/CGC/TTC/TGC/GAG-3’
d. 5’-ATG/AAG/TGC/TTC/TGC/GAG-3’

A

b. 5’-ATG/AAG/TGC/TTC/TGA/GAG-3’-transversion- UGA and UGC do not code for same amino acid
c. 5’-ATG/AAG/CGC/TTC/TGC/GAG-3-‘-transition both CGC and TGC

34
Q

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. Huntington’s Disease
b. Duchenne’s Muscular Dystrophy
c. Cystic Fibrosis
d. Marfan’s Syndrome

A

a. Huntington’s Disease

35
Q

If the wild type sequence of the coding strand is
5’-TTC/TTC/TTC/TTC/TTC/TTC-3’, then which of the following sequences show a silent mutation? BONUS?

a. 5’-TTC/TTC/TTC/TTC/TTC/ATC-3’- transversion
b. 5’-TTC/TTC/TTC/TTC/TTC/TTT-3’ - transition UUU/UUG- BONUS
c. 5’-TTC/TTC/TTC/TTC/TTC/TC-3’-x
d. 5’-TTC/TTC/TTC/TTC/TTC/TGC-3’- transversion

A

b. 5’-TTC/TTC/TTC/TTC/TTC/TTT-3’ - transition UUU/UUG- BONUS

36
Q

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.

A

d. Both of the statements are correct.

37
Q

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

A

c. Spontaneous mutations

38
Q

Choose the

A

MT 6315 (Cytogenetics) (11 decks)

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