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Spontaneous mutations may be caused by all of the following except


A) a base, in its tautomer form, pairing incorrectly.
B) deamination, causing mismatched base pairs.
C) DNA polymerase making errors in base pairings.
D) free radicals changing the base structure so it is unrecognizable by DNA polymerase.
E) an occurence of nondisjunction.

F) B) and D)
G) C) and D)

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DNA, because it has a _______ charge, moves to the _______ end of the field in gel electrophoresis; _______ DNA molecules migrate the most quickly.


A) positive; positive; smaller
B) positive; positive; larger
C) positive; negative; smaller
D) negative; positive; larger
E) negative; positive; smaller

F) A) and E)
G) C) and D)

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Fragile-X syndrome arises from an excessive number of triplet repeats of the sequence _______.

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Which of the following is a palindromic recognition sequence?


A) 5´. . . CAATAG . . . 3´
B) 5´. . . CAATTG . . . 3´
C) 5´. . . CATTTG . . . 3´
D) 5´. . . GATTTC . . . 3´
E) 5´. . . CATCAT . . . 3´

F) A) and D)
G) A) and C)

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Which of the mutations below do you think would have the greatest effect on the activity of the mutant enzymes?


A) Glutamate to lysine
B) Lysine to arginine
C) Glutamate to aspartate
D) Leucine to isoleucine
E) Serine to threonine

F) C) and D)
G) A) and B)

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Genetic markers must be polymorphic. Why is polymorphism an important characteristic of genetic markers?


A) The various phenotypes help to identify the actual gene responsible for a genetic disease.
B) Polymorphisms provide biochemical and physiological information about the disease.
C) Knowledge of the gene sequence allows for identification of the protein.
D) Radioactive labels can be added for easy identification of the disease.
E) They can be easily visualized as bands on an electrophoresis gel.

F) C) and D)
G) A) and E)

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Which of the following is not a way to treat a genetic disease?


A) Inhibiting a harmful biochemical reaction
B) Adding the wild-type allele to cells expressing the mutation
C) Restricting the substrate of a harmful biochemical reaction
D) Replacing a mutant allele with the wild-type allele in the fertilized egg
E) Supplying a wild-type protein that is missing due to mutation

F) A) and B)
G) D) and E)

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Among the human genome's 2.3 billion base pairs, there are about 16,000 DNA-damaging events daily. About what percentage is repaired?


A) 10 percent
B) 25 percent
C) 50 percent
D) 60 percent
E) 80 percent

F) C) and E)
G) B) and C)

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Multifactorial (complex) diseases


A) are less common than single-gene diseases.
B) involve the interaction of many genes with the environment.
C) affect less than 1 percent of humans.
D) involve the interactions of several mRNAs.
E) are exemplified by sickle-cell disease.

F) A) and E)
G) A) and D)

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Prions


A) cause scrapie in sheep.
B) are caused by abnormally folded proteins that interfere with normal brain-cell function.
C) cause "mad cow" disease.
D) are transmitted through the ingestion of infected tissue.
E) All of the above

F) A) and E)
G) None of the above

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A change of glutamic acid to valine at the sixth position of the β\beta -globin is responsible for _______.

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In sickle-cell disease, one amino acid is substituted for another. This type of mutation is referred to as a _______ mutation.


A) nonsense
B) missense
C) frame-shift
D) temperature sensitive
E) silent

F) A) and B)
G) A) and C)

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The reference points for gene isolation are called _______.

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Stanley Prusiner received a Nobel Prize for


A) showing that some oncogenes are transcription factors.
B) purifying the protein responsible for TSEs and showing that no nucleic acids were involved in the infectiousness of prion diseases.
C) discovering the protein responsible for cystic fibrosis.
D) sequencing the human genome with shotgun sequencing.
E) demonstrating that expanding triplet repeats are responsible for some diseases.

F) A) and D)
G) B) and E)

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Mutations of the gene for β\beta -globin


A) are usually lethal.
B) occur only at amino acid position 6.
C) number in the hundreds.
D) always result in sickling of red blood cells.
E) can always be detected by gel electrophoresis.

F) None of the above
G) D) and E)

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Which of the following treatments involves restricting the substrate?


A) Use of statin drugs to reduce cholesterol
B) Giving children with PKU Lofenalac instead of formula
C) Chemotherapy treatment with 5-fluorouracil
D) Chemotherapy treatment with arabinocytosine
E) Chemotherapy treatment with Taxol

F) B) and D)
G) B) and E)

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Single base changes in the coding regions of proteins can cause


A) missense mutations.
B) nonsense mutations.
C) frame-shift mutations.
D) silent mutations.
E) All of the above

F) All of the above
G) A) and E)

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Current treatments for genetic diseases include all of the following except


A) restricting a dietary substrate.
B) replacing the mutant gene in all cells.
C) alleviating the patient's symptoms.
D) inhibiting a harmful metabolic reaction.
E) supplying a protein that is missing.

F) B) and C)
G) A) and B)

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DNA testing by allele-specific hybridization


A) cannot detect genetic abnormalities in heterozygotes.
B) requires non-specific oligonucleotide probes.
C) requires PCR to amplify the gene in question.
D) requires that the mutation of the gene in question be in a restriction site.
E) is less precise than RFLP analysis.

F) A) and B)
G) A) and E)

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The DNA barcode project has the potential to


A) track species diversity in important ecological areas.
B) advance research in evolutionary biology.
C) detect undesirable microbes in food.
D) All of the above
E) None of the above

F) B) and D)
G) A) and B)

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