Human Genetics: Concepts and Applications (Lewis), 9th Edition

Chapter 12: Gene Mutation

Practice Tests

1
True or False. All mutations are harmful.
A)True
B)False
C)Cannot be determined.
2
A ____ mutation occurs during the DNA replication that precedes meiosis, while a ____ mutation occurs during the DNA replication that precedes mitosis.
A)germline; somatic
B)germline; spontaneous
C)somatic; germline
D)spontaneous, point
3
Which of the following diseases is caused by "exon skipping" in a gene encoding enzyme necessary for the survival of certain neurons?
A)beta thalassemia
B)Ehlers-Danlos syndrome
C)cystic fibrosis
D)familial dysautonomia
4
Beta thalassemia and sickle cell disease are both associated with mutations in the ____ gene.
A)globin
B)dystrophin
C)collagen
D)CCR5
5
Which of the following diseases is associated with a collagen-related mutation?
A)Ehlers-Danlos syndrome
B)aortic aneurysm
C)osteogenesis imperfecta
D)All of the above
6
Collagen is a major component of _____.
A)nervous tissue
B)muscle tissue
C)connective tissue
D)epithelial tissue
7
A spontaneous mutation usually originates as an error in _____.
A)DNA replication
B)DNA transcription
C)translation
D)reverse transcription
8
The ____ gene has a very high mutation rate, arising in 40 to 100 of every million gametes.
A)Huntington disease
B)Marfan syndrome
C)neurofibromatosis type 1
D)osteogenesis imperfecta
9
Two healthy people have a child expressing a genetic condition caused by a dominant allele. What can you conclude about this situation?
A)Infidelity - one parent had to contribute the disease allele.
B)The parents are not free from the disorder - one must be affected.
C)The mutation arose spontaneously in the child.
D)The child is not the biological child of the couple described.
10
Small additions and deletions of DNA bases are more likely to occur near ____, whose sequences read the same on complementary strands.
A)transposons
B)tautomers
C)palindromes
D)transitions
11
A ____ mutation is intentionally caused, changing a gene in a desired way.
A)spontaneous
B)somatic
C)site-directed
D)conditional
12
A mutagen is _____.
A)an agent that causes a mutation
B)a change in the nucleotide base sequence
C)an unusual phenotype
D)None of the above
13
The Ames test _____.
A)isolates mutational hot spots in the genome
B)tests the mutagenicity of a substance
C)is involved in site-directed mutagenesis
D)examines the rate of sickle cell disease in a population
14
Which of the following is a natural source of radiation?
A)sunlight
B)cosmic rays
C)radioactive minerals in the Earth's crust
D)All of the above
15
A point mutation that changes a codon specifying an amino acid into a stop codon is called a _____.
A)missense mutation
B)nonsense mutation
C)frameshift mutation
D)deletion mutation
16
Fragile-X syndrome and Huntington disease are caused by a(n) _____.
A)tandem duplication
B)fusion gene
C)expanding triplet repeat
D)deletion
17
Which of the following is an effect of a mutation?
A)It prevents a protein from forming.
B)It lowers the amount of a protein.
C)It adds a function to a protein.
D)All of the above can occur.
18
Changing the codon AGC to AGA represents a ____ mutation.
A)missense
B)nonsense
C)frameshift
D)deletion
19
The codon for leucine is CUC. How many different amino acids could possibly result from single-base substitutions?
A)1
B)3
C)5
D)7
20
A frameshift mutation _____.
A)replaces one amino acid with another
B)removes part of the protein
C)introduces a section of amino acids not normally found
D)joins two different proteins
21
Which of the following is not a triplet repeat disorder?
A)Fragile X syndrome
B)Huntington disease
C)myotonic dystrophy
D)Duchenne muscular dystrophy
22
A crossover between a working gene and its ____ results in a fusion gene. Some cases of ____ can result from this type of mutation.
A)expanding triplet repeat; myotonic dystrophy
B)transposon; hemophilia
C)pseudogene; Gaucher disease
D)duplicate; Charcot-Marie-Tooth disease
23
A mutation that changes an adenine to a guanine is an example of a _____.
A)transversion
B)transition
C)frameshift
D)nonsense
24
Fatal familial insomnia is an example of a(n)_____.
A)expanding repeat disorder
B)deletion mutation
C)fusion gene
D)prion disorder
25
Which characteristic of the genetic code lowers the likelihood of mutation?
A)universality
B)synonymous codons
C)triplet
D)non-overlapping nature
26
Which of the following is an example of a conditional mutation?
A)Fragile-X syndrome
B)Creutzfeldt-Jakob syndrome
C)myotonic dystrophy
D)variant of G6PD deficiency
27
A ____ mutation affects the phenotype only under certain conditions.
A)spontaneous
B)somatic
C)site-directed
D)conditional
28
During DNA repair, photoreactivation or excision repair can correct _____.
A)mismatched bases
B)pyrimidine dimers
C)broken sugar-phosphate backbones
D)conditional mutants
29
Which of the following defects causes ataxia telangiectasis?
A)deficiency in kinase that controls the cell cycle
B)deficient excision repair
C)deficient mismatch repair
D)inactive ligase that slows replication
30
Ultraviolet radiation damages DNA by causing an extra ____ bond to form between adjacent ____.
A)hydrogen; pyrimidines
B)covalent; pyrimidines
C)covalent; purines
D)hydrogen; purines
31
Examples of mutational "hot spots" include each of the following EXCEPT:
A)short repetitive sequences.
B)palindromes.
C)prion protein conformations.
D)misalignment of homologous chromosomes during meiosis I.
32
____ specifically describe cancer causing agents.
A)Proteins
B)Fusions genes
C)Carcinogens
D)Mutagens
33
A point mutation that has no obvious effect at all on the phenotype is called a ____ mutation.
A)silent
B)missense
C)nonsense
D)transversion
34
A point mutation that alters a codon so that the encoded amino acid is substituted with another is called a ____ mutation.
A)silent
B)missense
C)nonsense
D)transversion
35
____ codons are those that specify the same amino acid.
A)Nonsynonymous
B)Conditional
C)Triplet repeat
D)Synonymous
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