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Basic Mutation
Mutational Nomenclature
Test Your Knowledge
Mutation Detection
Common or Rare
100
Which of the following codons does not result after a nonsense mutation?

a) TAA
b) TAG
c) TGA
d) ATG
d) What is ATG?
100
Which gene region can have mutations that are not likely to have a functional effect?

a) Promoter
b) Splice junction
c) Deep intron
d) 3’UTR
c) What is a deep intron?
100
Which mutation type can you detect using a restriction digest and gel electrophoresis?

a) Insertions
b) Deletions
c) Base substitutions
d) All of the above
d) What is all of the above?
100
What is the most common mechanism for a deletion regardless of the size of the deletion 1bp to 1,000 bp?

a) DNA adducts
b) Methylation
c) Strand slippage
d) Deamination
c) What is strand slippage?
100
A substitution at one nucleotide is most likely to cause which mutation type?

a) Nonsense
b) Silent
c) Missense
d) Frameshift
c) What is Missense?
200
In a mutation, when a purine is substituted for a purine this change is called?

a) Conservative
b) Nonconservative
c) Transition
d) Transversion
c) What is a transition?
200
Which mutation type restores the wild type?

a) Forward
b) Reverse
c) Null
d) Synonymous
b) What is reverse?
200
Which mutation type can you detect using PCR amplification with primers upstream and downstream of the mutation?

a) Transitions
b) Transversions
c) Insertions and deletions
d) All of the above
c) What are insertions and deletions?
200
Which mutation type would you chose to induce if you wanted the greatest likelihood to create a null mutant?

a) Missense
b) Synonymous
c) Nonsense
d) Spontaneous
c) What is nonsense?
200
Which of the following DNA sequences is the hottest spontaneous mutation hotspot in vertebrates?

a) Monobasic runs
b) CpG dinucleotides
c) CC dinucleotides
d) Retrotransposons
b) What are CpG dinucleotides?
300
Ethidium bromide commonly causes what type of mutation?

a) Reversions
b) Insertions and deletions
c) Inversions
d) Base substitutions
b) What are insertions and deletions?
300
Transversion best describes which of the following substitutions?

a) Purine for purine
b) Pyrimidine for pyrimidine
c) Purine for pyrimidine
d) Mutant for wild type phenotypes
c) What is purine for pyrimidine? (or pyrimidine for purine)
300
Which mutation type below has the least likelihood of affecting protein function?

a) Nonsense
b) Frameshift
c) Missense mutation
d) Synonymous mutation
d) What is a synonymous mutation?
300
Multiple alleles found in at least 1% of individuals in a population describes a...

a) Germline mosaicism
b) Polymorphism
c) Somatic mosaicism
d) Polyploidy
b) What is a polymorphism?
300
Which of the following necessarily leads to an increase in genome size?

a) Gene conversion
b) Mutation
c) Retrotransposition
d) Unequal Crossover
c) What is retrotransposition?
400
A phenomenon of more than one type of mitochondrial genome within a cell or individual is known as?

a) Hemizygosity
b) Heteroplasmy
c) Mosaicism
d) Copy number variant
b) What is Heteroplasmy?
400
Which spontaneous mutation type do you think is the most commonly observed in vertebrate species?

a) Transition
b) Transversion
c) Deletion
d) Insertion
a) What is a transition?
400
Which mutagen causes primarily DNA strand breaks?

a) X-rays
b) UV
c) Aflatoxin
d) Ethidium bromide
a) What are X-rays?
400
UV radiation causes what type of DNA damage?

a) Thymine dimers
b) Deamination
c) Alkylation
d) Enolization
a) What are thymine dimers?
400
Which of the following most affects the frequency of C to T transitions in a vertebrate genome?

a) The level of reactive oxygen species
b) The percentage of cytosines in the DNA sequence
c) The amount of repeated sequence
d) The degree to which the genome is methylated
d) What is the degree to which the genome is methylated?
500
The complementation test is used to determine if two mutations...

a) Are required to generate a mutant
b) Are on the same chromosome
c) Are in the same gene
d) Cancel each other out
c) What is are in the same gene?
500
Which disease does not result from trinucleotide repeat expansion?

a) Huntington
b) Myotonic Dystrophy
c) Hemophilia
d) Fragile X
c) What is Hemophilia?
500
Which of the following best describes mutations resulting in the conservative substitution of amino acids?

a) Synonymous substitutions
b) Frameshift mutations
c) Missense mutations
d) Nonsense mutations
c) What are missense mutations?
500
Which of the following is not a genetic disease generally resulting from mutation?

a) Creutzfeldt-Jakob disease
b) Tay-Sachs disease
c) Cystic fibrosis
d) Achondroplasia
a) What is Creutzfeldt-Jakob disease?
500
A nonsense mutation commonly results in...

a) An abnormal elongation of a polypeptide
b) A premature termination of the synthesis of a polypeptide
c) A large deletion within the reading frame of a gene
d) A different amino acid that has little or no effect on protein function
b) What is a premature termination of the synthesis of a polypeptide?