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UNIT 6 - GENETIC MUTATIONS Flashcards

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1
Q

Alteration of the nucleotide sequence of a gene
a. Gene Mutation
b. Chromosomal mutation

A

a. Gene Mutation

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2
Q

Caused by errors in DNA replication and mutagens
a. Gene Mutation
b. Chromosomal mutation

A

a. Gene Mutation

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3
Q

Mutation that can cause
* Sickle Cell Anemia
* Hemophilia
* Cystic Fibrosis
* Tay-Sachs Disease
* Cancers
*** Huntington Syndrome **

a. Gene Mutation
b. Chromosomal mutation

A

a. Gene Mutation

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4
Q

Alterations in the chromosome structure and chromosome number

a. Gene Mutation
b. Chromosomal mutation

A

b. Chromosomal mutation

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5
Q

Caused by errors in crossing over during meiosis
a. Gene Mutation
b. Chromosomal mutation

A

b. Chromosomal mutation

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6
Q

Single Gene is Affected
a. Gene Mutation
b. Chromosomal mutation

A

a. Gene Mutation

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7
Q

Several genes are affected
a. Gene Mutation
b. Chromosomal mutation

A

b. Chromosomal mutation

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8
Q

Influence is comparatively low
a. Gene Mutation
b. Chromosomal mutation

A

a. Gene Mutation

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9
Q

Can sometimes be lethal

A

b. Chromosomal mutation

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10
Q

This mutation can cause
* Klinefelter Syndrome
* Turner Syndrome
* Down Syndrome

a. Gene Mutation
b. Chromosomal mutation

A

b. Chromosomal mutation

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11
Q

T/F

Both Mutation and Polymorphism involes changes in the sequence of nucleotides

A

True

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12
Q

Changed sequence resulting in a disease
a. Mutation
b. Polymorphism

A

a. Mutation

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13
Q

Chanaged sequence generally not resulting in a disease
a. Mutation
b. Polymorphism

A

b. Polymorphism

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14
Q

T/F

Blood Type is an example of Mutation

A

False

Blood Type is an example of Polymorphism

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15
Q

Which Genetic Variation is being described
* Presence of atleast two alternate DNA sequence
* Frequency is >1%

a. Genetic Polymorphism
b. Genetic Mutation

A

a. Genetic Polymorphism

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16
Q

Which Genetic Variation is being described
* Any heritable change in the amount or sturcture of genetic material

a. Genetic Polymorphism
b. Genetic Mutation

A

b. Genetic Mutation

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17
Q

Which Genetic Variation is being described
* Population Attribute
* More than one allele at a particular locus in a particular population

a. Genetic Polymorphism
b. Genetic Mutation

A

a. Genetic Polymorphism

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18
Q

Which Genetic Variation is being described
* Physical Event
* Permanent alteration of a nucleotide sequence of gene

a. Genetic Polymorphism
b. Genetic Mutation

A

b. Genetic Mutation

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19
Q

Single base pair chainge in the nucleotide sequence

a. Single Nucleotide Polymorphism
b. Point Mutation

A

a. Single Nucleotide Polymorphism

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20
Q

Single base pair change in the nucleotide

a. Single Nucleotide Polymorphism
b. Point Mutation

A

a. Single Nucleotide Polymorphism

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21
Q

Single base pair change in the nucleotide of a gene
a. Single Nucleotide Polymorphism
b. Point Mutation

A

b. Point Mutation

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22
Q

List the kinds of Gene Mutation

A
  • Point Mutations
  • Frameshift Mutations
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23
Q

Point mutation where in Change in codn sequence produce same amino acid

a. Silent
b. Missense
c. Nonsense
d. common sense

A

a. Silent

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24
Q

Point mutation where in Change in codn sequence produce different amino acid

a. Silent
b. Missense
c. Nonsense
d. common sense

A

b. Missense

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25
Point mutation where in Change in codn sequence produce stop codon a. Silent b. Missense c. Nonsense d. common sense
c. Nonsense
26
T/F The higher the genome size; the higher the rate of mutations
False The higher the genome size; the lower rate of mutations
27
T/F The higher the popuation size; the higher the rate of mutations
False The higher the population size; the lower the rate of mutations
28
What Hypothesis supports The higher the population size; the lower the rate of mutations
Drift-Barrier Hypothesis
29
T/F In Physicochemical Limit of Mutation: The higher the fidelity; The lower the Mutation rates
True
30
T/F In Selection Theory: The Higher the Replicative Speed; The Lower the Mutation Rates
False In Selection Theory: The Higher the Replicative Speed; The Higher the Mutation Rates
31
Occurs in the absence of known mutagen a. Spontaneous b. Induced
a. Spontaneous
32
Occurs in the presence of known mutagen a. Spontaneous b. Induced
b. Induced
33
Agent that changes genetic material
Mutagen
33
34
Mutagen that causes Congenital Malformation a. Teratogen b. Carcinogen c. Clastogen d. Non-specific
a. Teratogen
35
Mutagen that causes Tumor formation; Cancer-causing a. Teratogen b. Carcinogen c. Clastogen d. Non-specific
b. Carcinogen
36
Mutagen that causes Chromosomal Abnormalities a. Teratogen b. Carcinogen c. Clastogen d. Non-specific
c. Clastogen
37
Mutagen that causes DNA damage a. Teratogen b. Carcinogen c. Clastogen d. Non-specific
d. Non-specific
38
T/F UV light breaks the bonds between thymine and adeninde forming **Thymine Bridge or Thymine Dimer**
True
39
Cell type that is * Most common for cancers * Localized Mutation * **CANNOT BE CARRIED TO THE OFFSPRING** a. Somatic b. Germ Line
a. Somatic
40
Cell type that is * Carried to the offspring * Can metastasize and spread a. Somatic b. Germ line
b. Germ line
41
Loss of function which Eliminates normal function * Total Loss * Complete Gene Inactivation a. Amorphic b. Hypomorphic
Amorphic
42
Loss of function which Eliminates normal function * Partial Loss * Reduces Normal Function a. Amorphic b. Hypomorphic
b. Hypomorphic
43
Gain of function which increases normal function a. Hypermorphic b. Neormorph
a. Hypermorphic
44
Gain of function which occurence of a function where it was previously absent a. Hypermorphoc b. Neormorph
b. Neormorph
45
Gain of function which qualitatively alters the action of a gene a. Hypermorphoc b. Neomorph
b. Neomorph
46
A mutant gene product that interferes with normal gene function
Antimorphic
47
T/F Recessive mutations are usually a gain of function
False Loss of function
48
T/F Dominant mutation can be caused by a loss or gain of function
True
49
Substitution which is replaced by the same type of nucleotide a. Transition b. Transversion
a. Transition
50
Substitution which is pyrimidine is replaced by a purine or vice versa a. Transition b. Transversion
b. Transversion
51
T/F Transition is more common than transversion
True
52
Less likely to cause amino acid sequence a. Transition b. Transversion
a. Transition
53
More likely to cause amino acid sequence changes a. Transition b. Transversion
b. Transversion
54
Involves the loss of one or more nucleotides
Deletions
55
Involves the addition of noe or more nucleotides into a gene
Inserition
56
affects protein function or stability a. Multiple of 3 nucleotides b. Not Multiple of 3 c. Large Deletion
a. Multiple of 3 nucleotides
57
Results to frameshift mutation a. Multiple of 3 nucleotides b. Not Multiple of 3 c. Large Deletion
b. Not Multiple of 3
58
Unequal crossover between repeat sequences a. Multiple of 3 nucleotides b. Not Multiple of 3 c. Large Deletion
c. Large Deletion
59
The amplification of a sequence of three nucleotides which prevents normal expression of the gene
Expansion of Trinucleotide Repeat
60
Disorder where CGG repeats a. Fragile X Syndrome b. Huntington disease c. Myotonic dystrophy d. Friedreich ataxia
a. Fragile X Syndrome
61
Disorder where CAG repeats a. Fragile X Syndrome b. Huntington disease c. Myotonic dystrophy d. Friedreich ataxia
b. Huntington disease
62
Disorder where CTG a. Fragile X Syndrome b. Huntington disease c. Myotonic dystrophy d. Friedreich ataxia
c. Myotonic dystrophy
63
Disorder where GAA repeats a. Fragile X Syndrome b. Huntington disease c. Myotonic dystrophy d. Friedreich ataxia
d. Friedreich ataxia
64
Mutation does not alter the polypeptide product of the gene a. Synonymous Mutation b. Silent Mutation
a. Synonymous Mutation
65
Base substitution occurs but does not change the amino acid sequence a. Synonymous Mutation b. Silent Mutation
b. Silent Mutation
66
Mutation leads to an alteration in the encoded polypeptide a. Nonsynonymous peptide b. Missense mutation
a. Nonsynonymous peptide
67
Base-pair substitution that produce a change in a single amino acid a. Nonsynonymous peptide b. Missense mutation
b. Missense mutation
68
Base-pair subsbstitution that produce a stop condon in the mRNA which also results in the premature termination of the polypeptide chain a. Nonsense Mutation b. Frameshift Mutation
a. Nonsense Mutation
69
When mutation involves the insertion or deletion of nucleotides that are not multple of three, it will disrupt the reading frame a. Nonsense Mutation b. Frameshift Mutation
b. Frameshift Mutation
70
T/F Trinucleotide Repeat Expansion is an Example of Dynamic Mutation
TRUE

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