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UNIT 6 - GENETIC MUTATIONS Flashcards

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
Q

Point mutation where in Change in codn sequence produce stop codon

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

A

c. Nonsense

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26
Q

T/F

The higher the genome size; the higher the rate of mutations

A

False

The higher the genome size; the lower rate of mutations

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27
Q

T/F

The higher the popuation size; the higher the rate of mutations

A

False

The higher the population size; the lower the rate of mutations

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28
Q

What Hypothesis supports

The higher the population size; the lower the rate of mutations

A

Drift-Barrier Hypothesis

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29
Q

T/F

In Physicochemical Limit of Mutation: The higher the fidelity; The lower the Mutation rates

30
Q

T/F

In Selection Theory: The Higher the Replicative Speed; The Lower the Mutation Rates

A

False

In Selection Theory: The Higher the Replicative Speed; The Higher the Mutation Rates

31
Q

Occurs in the absence of known mutagen

a. Spontaneous
b. Induced

A

a. Spontaneous

32
Q

Occurs in the presence of known mutagen

a. Spontaneous
b. Induced

A

b. Induced

33
Q

Agent that changes genetic material

34
Q

Mutagen that causes Congenital Malformation

a. Teratogen
b. Carcinogen
c. Clastogen
d. Non-specific

A

a. Teratogen

35
Q

Mutagen that causes Tumor formation; Cancer-causing

a. Teratogen
b. Carcinogen
c. Clastogen
d. Non-specific

A

b. Carcinogen

36
Q

Mutagen that causes Chromosomal Abnormalities

a. Teratogen
b. Carcinogen
c. Clastogen
d. Non-specific

A

c. Clastogen

37
Q

Mutagen that causes DNA damage

a. Teratogen
b. Carcinogen
c. Clastogen
d. Non-specific

A

d. Non-specific

38
Q

T/F

UV light breaks the bonds between thymine and adeninde forming Thymine Bridge or Thymine Dimer

39
Q

Cell type that is
* Most common for cancers
* Localized Mutation
* CANNOT BE CARRIED TO THE OFFSPRING

a. Somatic
b. Germ Line

A

a. Somatic

40
Q

Cell type that is
* Carried to the offspring
* Can metastasize and spread

a. Somatic
b. Germ line

A

b. Germ line

41
Q

Loss of function which Eliminates normal function
* Total Loss
* Complete Gene Inactivation

a. Amorphic
b. Hypomorphic

42
Q

Loss of function which Eliminates normal function
* Partial Loss
* Reduces Normal Function

a. Amorphic
b. Hypomorphic

A

b. Hypomorphic

43
Q

Gain of function which increases normal function

a. Hypermorphic
b. Neormorph

A

a. Hypermorphic

44
Q

Gain of function which occurence of a function where it was previously absent

a. Hypermorphoc
b. Neormorph

A

b. Neormorph

45
Q

Gain of function which qualitatively alters the action of a gene

a. Hypermorphoc
b. Neomorph

A

b. Neomorph

46
Q

A mutant gene product that interferes with normal gene function

A

Antimorphic

47
Q

T/F

Recessive mutations are usually a gain of function

A

False

Loss of function

48
Q

T/F

Dominant mutation can be caused by a loss or gain of function

49
Q

Substitution which is replaced by the same type of nucleotide

a. Transition
b. Transversion

A

a. Transition

50
Q

Substitution which is pyrimidine is replaced by a purine or vice versa

a. Transition
b. Transversion

A

b. Transversion

51
Q

T/F

Transition is more common than transversion

52
Q

Less likely to cause amino acid sequence

a. Transition
b. Transversion

A

a. Transition

53
Q

More likely to cause amino acid sequence changes

a. Transition
b. Transversion

A

b. Transversion

54
Q

Involves the loss of one or more nucleotides

55
Q

Involves the addition of noe or more nucleotides into a gene

A

Inserition

56
Q

affects protein function or stability

a. Multiple of 3 nucleotides
b. Not Multiple of 3
c. Large Deletion

A

a. Multiple of 3 nucleotides

57
Q

Results to frameshift mutation

a. Multiple of 3 nucleotides
b. Not Multiple of 3
c. Large Deletion

A

b. Not Multiple of 3

58
Q

Unequal crossover between repeat sequences

a. Multiple of 3 nucleotides
b. Not Multiple of 3
c. Large Deletion

A

c. Large Deletion

59
Q

The amplification of a sequence of three nucleotides which prevents normal expression of the gene

A

Expansion of Trinucleotide Repeat

60
Q

Disorder where CGG repeats

a. Fragile X Syndrome
b. Huntington disease
c. Myotonic dystrophy
d. Friedreich ataxia

A

a. Fragile X Syndrome

61
Q

Disorder where CAG repeats

a. Fragile X Syndrome
b. Huntington disease
c. Myotonic dystrophy
d. Friedreich ataxia

A

b. Huntington disease

62
Q

Disorder where CTG

a. Fragile X Syndrome
b. Huntington disease
c. Myotonic dystrophy
d. Friedreich ataxia

A

c. Myotonic dystrophy

63
Q

Disorder where GAA repeats

a. Fragile X Syndrome
b. Huntington disease
c. Myotonic dystrophy
d. Friedreich ataxia

A

d. Friedreich ataxia

64
Q

Mutation does not alter the polypeptide product of the gene

a. Synonymous Mutation
b. Silent Mutation

A

a. Synonymous Mutation

65
Q

Base substitution occurs but does not change the amino acid sequence

a. Synonymous Mutation
b. Silent Mutation

A

b. Silent Mutation

66
Q

Mutation leads to an alteration in the encoded polypeptide

a. Nonsynonymous peptide
b. Missense mutation

A

a. Nonsynonymous peptide

67
Q

Base-pair substitution that produce a change in a single amino acid

a. Nonsynonymous peptide
b. Missense mutation

A

b. Missense mutation

68
Q

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

a. Nonsense Mutation

69
Q

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

A

b. Frameshift Mutation

70
Q

T/F

Trinucleotide Repeat Expansion is an Example of Dynamic Mutation

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