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Genetics > Genome and mutations > Flashcards

Genome and mutations Flashcards

1
Q

Any change in the information content of genetic material

A

Mutation

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2
Q

A change in the identity of an single base at a specific position in a nucleic acid sequence.

A

Point mutation

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3
Q

A point mutation involving the replacement of a purine base by another purine base or of a pyrimidine base by another pyrimidine base.

A

Transition

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4
Q

A point mutation involving the replacement of a purine base by a pyrimidine base or vice versa.

A

Transversion

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5
Q

What is the difference between missense and nonsense mutations?

A

Missense converts a codon specifiying an amino acid to another codon specifying a different amino acid. Nonsense converts a codon specifying an amino acid to a stop codon, which prematurely terminates translation.

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6
Q

Mutation that converts a stop codon into a codon that specifies an amino acid, causing translation to proceed beyond the codon

A

Readthrough

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7
Q

Mutation that inserts or deletes one or more nucleotide residues within a codon sequence, resulting in a shift in the reading frame of the sequence downstream.

A

Frameshift

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8
Q

Which of the following refers to the term, genome?

A. All genes 
B. All nuclear genes 
C. All nuclear and organellar genes 
D. All DNA sequences in haploid chromosomes 
E. All nuclear DNA
A

D

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9
Q

In comparative genomics, what aspects of the organism are being compared?

A. Metabolites
B. Genes
C. DNA sequences
D. Protein sequences

A

C

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10
Q

Which of the following would result from a silent mutation in a gene?

A. A truncated protein
B. A shift in the translational reading frame
C. The nucleotide sequence of the mRNA encoded by the gene remains unchanged
D. The amino acid sequence of the protein encoded by the gene remains unchanged

A

D

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11
Q

BLAST of your unknown protein gave a hit in the database for proteinase K with an e value of e—100 Which of the following would BEST characterize the genes encoding these two proteins?

A. They are functionally unrelated.
B. They function in the same tissue.
C. They encode a dimeric protein complex
D. They are derived from similar species.

A

D

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12
Q

Which of the following would BEST explain why in bacterial production of mammalian proteins, a cDNA is used rather than genomic DNA?

A. It is not possible to clone the entire coding region of the gene.
B. It is easier to clone cDNA than genomic DNA of comparable size.
C. It is easier to clone RNA than DNA.
D. Most eukaryotic genes have introns that cannot be removed in bacteria.

A

D

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13
Q

Which of the following is of LEAST importance in comparative genomics?

A. Subcellular structures
B. DNA sequences
C. Sequence alignment software
D. Sequence databases

A

A

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14
Q

In which level of comparative genomics resolution does synteny fall?

A. High
B. Medium
C. Low
D. None of the above

A

C

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15
Q

Which of the following drives a regulated endogenous mutation process?

A. Action of activation-induced cytidine deaminase (AID)
B. Spontaneous thymine-thymine dimerization
C. Activity of low fidelity polymerases
D. All of the above
E. A and C only

A

E

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16
Q

Which of the following statements is INCORRECT?

A. Point mutations may result in the production of truncated gene products.
B. Point mutations may have no effect on translated amino acid sequences.
C. Point mutations may produce shifts in reading frame.
D. Insertion-deletion mutations may produce shifts in reading frame.

A

C

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17
Q

Which of the following statements regarding comparative genomics is “INCORRECT”?

A. Gene orthologs in model organisms are utilized to correct defective human genes
B. Genomes of model organisms are compared for their evolutionary significance
C. Similarities in genomes define the “minimal genome concept” or the minimal gene set required for cellular life
D. Identification of gene orthologs helps annotate human genes
E. Mutations and associated phenotypic defects in model organisms help explain human genetic diseases

A

A

18
Q

Which of the following are NOT properties of genes?

A. only undergo translation into a protein or a polypeptide
B. can be turned on or off
C. always carries heritable information
D. be classified into types depending on the RNA polymerase acting on them
E. may contain a coding region flanked by untranslated regions

A

A

19
Q

Which of the following RNA are not directly involved in Class II gene expression?

 A. snRNA 
 B. rRNA 
 C. snoRNA
 D. mRNA 
 E. tRNA
A

C

20
Q

Which of the following statements DOES NOT characterize the human genome?

A. Its estimated haploid size is 3 billions base pairs
B. A large portion of the genome (41.7%) has no known molecular function
C. The average gene size is 27 000 base pairs.
D. Repetitive sequences (Alu, MIR, MER, LTR & LINE) comprise 35.3% of the genome.
E. Some regions remained unsequenced due to their A+T content.

A

E

21
Q

Which of the following statements is “CORRECT”?

A. There are more gene-coding sequences than junk genes in the human genome.
B. Telomeres and centromeres contain most of the household proteins.
C. Pseudogenes are important genome structures for rescuing gene malformation.
D. Alternative splicing accounts for more protein products relative to gene number.
E. The largest chromosome is the most gene-rich chromosome.

A

D

22
Q

Which of the following biologic samples is ideal for genomic analysis?

A. WBC
B. Sperm
C. Hair
D. RBC

A

A

23
Q

Which of the ff. statement does not refer to a gene?

A. Locatable region of a genomic sequence
B. Corresponds to the unit of inheritance
C. Associated with regulatory genes transcribed and other
functional sequence regions.
D. Region of the genome that is resistant to spontaneous
mutation
E. None of the above

A

E

24
Q

Which of the following statements is correct?

A. The cell’s genome includes the totality of the DNA found in the nucleus
B. Any region in the genome can be utilized to estimate evolution in time
C. There are more score-able traits in the DNA sequence vis-a-vis morphological features
D. Evolution implies that all genes mutate at equivalent rates
E. To insure organism survival, exons must mutate faster
than introns

A

C

25
Q

Which of the following is correct?

A. Humans are the most intelligent organisms because they have the most number of genes
B. Nuclear genes of organelle expression insures survival of prokaryotic-like structures in the cell
C. The fetal gene must undergo massive “rearrangement” to support phenotypic changes with development
D. The more genes an organism has, the better it is for
organism protection
E. Junk DNAs are plenty because the junk encode promote genomic stability

A

B

26
Q

Which of the following mutation diseases confers strategic advantage against infectious disease?

 A. Leukemia 
 B. Duchenne Muscle Dystrophy 
 C. Hemophelia 
 D. Sickle Cell Anemia
 E. Monogenic Diabetes
A

D

27
Q

Which of the following statements is/are FALSE?

A. An insertion or deletion by itself always produces a change in nucleic acid length.
B. An insertion or deletion always produces a shift in
reading frame.
C. A point mutation by itself never produces a shift in reading frame
D. Both A and B

A

B

28
Q

Which of the following statements is/are FALSE?

A. An example of transversion is mutation of guanine to
cytosine.
B. An example of transition is mutation of cytosine to
thymine.
C. Spontaneous deamination of cytosine yields thymine.
D. Both A and C

A

C

29
Q

Which of the following statements is/are FALSE?

A. Cyclobutane dimers are characteristic of DNA damage
due to ultraviolet rays
B. Creation of an AP site occurs in the course of base
excision repair
C. Creation of an AP site occurs in the course of
nucleotide excision repair
D. Both B and C

A

C

30
Q

Which among these is true if an exonic DNA mutation occurs in a gene that results to a premature stop codon?

A. Polyadenylation of mRNA will not occur
B. Intron excision will be disrupted
C. mRNA will not be transported out of the nucleus
D. Translated protein will be truncated

A

D

31
Q

Which of the following statements about DNA methylation is not true?

A. Loss of CpG dinucleotides during the evolution of
vertebrates increases the chance of gene control by
methylation.
B. DNA methylation patterns may be inherited.
C. Unmethylated DNA increases the chance of a gene
becoming active.
D. DNA methylation patterns of … throughout the development of an embryo to childbirth (Assigned person
was not able to complete the statement)

A

C

32
Q

Which of the following describes the action of glucocorticoids?

A. Glucocorticoids bind to sequences of RNA to block RNA
modification.
B. Glucocorticoids and their receptors act on response
elements.
C. Glucocorticoids bind to membrane receptors that send out secondary messengers to activate transcription factors.
D. Glucocorticoids phosphorylation.

A

B

33
Q

Which of the ff are true about gene promoters

A. Increase expression of certain genes
B. May lie on the same or opposite DNA strand to the genes they control
C. They determine where and if transcription begins
D. Each gene has one and only one promoter

A

C

34
Q

Peptide hormones exert their influence on gene expression by initially binding to cell surface receptors secondary messengers like cAMP can cause a series of events resulting in the binding of CREB to cAMP response elements in the DNA. Which type of control of gene expression is this?

 A. Epigenetic Control 
 B. Transcriptional Control
 C. RNA Transport Control 
 D. Post-Transcriptional Control 
 E. Translational Control
A

B

35
Q

Proteins of the HSP family (heat-shock protein) have been found to facilitate accurate folding of polypeptides as they are being synthesized. If these molecular chaperones were to cease functioning, which of the following would likely occur?

A. Correct folding of polypeptides would continue at the
same rate 
B. Increase in activity of proteasome
C. Decrease in protein aggregates 
D. Decrease in ubiquitination
A

B

36
Q

Which of the ff about trans-acting factors is true?

A. Are base sequences on the same strand of DNA as the
gene they control
B. Need to be located near their gene to exert their action
C. Trans - acting factors may either suppress/ activate gene expression
D. NOTA

A

C

37
Q

Histones are able to undergo which of the following modifications?

 A. Acetylation 
 B. Ubiquitination 
 C. Methylation 
 D. All of the Above
 E. A and B only
A

D

38
Q

A CpG Segment just proximal to the promoter of a tumor
suppression gene what if it is amplified 100-fold, which of the following will occur?

A. Increase in acetylation of the segment
B. increase in protection of tumorgenesis
C. Deactivation of the MecP2 Protein
D. Decrease in likelihood of developing a tumor

A

D

39
Q

The expression of ferritin is controlled by an Iron Response
Element (IRE) that is bound to mRNA. When Iron is abundant the IRE is released and binds to iron instead, and ferritin expression is increased. Which of the following is this an example of?

A. Epigenetic control 
B. transcriptional control 
C. RNA transport control 
D. post-transcriptional control
E. translational control
A

E

40
Q

Which of the following statements is true about “thrifty genotype” hypothesis?

A. The thrifty genes have been deleted from the human
genome by evolution because of the availability of food in
modern times.
B. A century ago, according to this hypothesis, individuals with the “thrifty genes” had a better chance of surviving famine.
C. The thrifty genes are detrimental in modern times when
an individual goes on a diet
D. none of the above is true

A

B

Genetics (8 decks)

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