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2nd Year 2nd Term > MT6315 GENETIC MUTATIONS > Flashcards

MT6315 GENETIC MUTATIONS Flashcards

1
Q

GENETIC OR CHROMOSOMAL MUTATION: single gene is affected

A

GENETIC

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2
Q

GENETIC OR CHROMOSOMAL MUTATION: low influence

A

GENETIC

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3
Q

GENETIC OR CHROMOSOMAL MUTATION: sometimes lethal

A

CHROMOSOMAL

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4
Q

GENETIC OR CHROMOSOMAL MUTATION: errors in DNA replication and mutagens

A

GENETIC

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5
Q

GENETIC OR CHROMOSOMAL MUTATION: causes sickle cell anemia, hemophilia, CF

A

Genetic

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6
Q

GENETIC OR CHROMOSOMAL MUTATION: error in crossing over

A

chromosomal

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7
Q

GENETIC OR CHROMOSOMAL MUTATION: alteration in nucleotide sequence

A

GENETIC

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8
Q

GENETIC OR CHROMOSOMAL MUTATION: several genes are affected

A

CHROMOSOMAL

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9
Q

MUTATION OR POLYMORPHISM: <1% of the population

A

MUTATION

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10
Q

MUTATION OR POLYMORPHISM: Not affected

A

POLY

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11
Q

MUTATION OR POLYMORPHISM: Carrier; Diseased

A

MUTATION

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12
Q

Genetic polymorphism has at least how many alternate DNA sequences?

A

2

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13
Q

Genetic Polymorphism is generally not associated with disease but may cause the following?

A

result in phenotype

be a risk of disease

alter the function or
expression level of a protein

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14
Q

any heritable change in the amount or structure of genetic material.

A

Mutation

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15
Q

Classification of mutations can be based on?

A

Origin
Cell type
Expression
Effect on function
Molecular change and its effects on protein products

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16
Q

POLYMORPHISM OR MUTATION: Physical event

A

MUTATION

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17
Q

POLYMORPHISM OR MUTATION: presence of more than 1 allele at a particular locus in a particular population

A

POLYMORPHISM

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18
Q

POLYMORPHISM OR MUTATION: permanent alteration of a nucleotide

A

MUTATION

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19
Q

POLYMORPHISM OR MUTATION: Natural selection does not affect alleles

A

POLY

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20
Q

POLYMORPHISM OR MUTATION: Natural selection selects

A

MUTATION

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21
Q

POLYMORPHISM OR MUTATION: Human gender, ABO group

A

POLYMORPHISM

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22
Q

POLYMORPHISM OR MUTATION: Sickle cell anemia, CF, Klinefelter

A

MUTATION

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23
Q

Types of point mutation?

A

Silent
Missense
Nonsense

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24
Q

Types of frameshift mutation?

A

Addition
Deletion

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25
Q

Types of Gene Mutation?

A

Point
Frameshift

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26
Q

Genetic mutations based on origin?

A

Spontaneous
Induced

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27
Q

TYPE OF MUTATION BASED ON ORIGIN: Occurs in absence of known mutagen

A

Spontaneous

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28
Q

TYPE OF MUTATION BASED ON ORIGIN: Occurs in presence of known mutagen

A

Induced

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29
Q

TYPE OF MUTATION BASED ON ORIGIN: Statistically random, unpredictable events

A

Spontaneous

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30
Q

TYPE OF MUTATION BASED ON ORIGIN: happens in most mutations

A

Spontaneous

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31
Q

T or F: Each gene has its rate of mutation

A

T

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32
Q

The rate of mutation can (increase/decrease) with a mutagen or radiation

A

Increase

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33
Q

an agent that changes genetic material

A

Mutagen

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34
Q

Types of mutagens based on their effect?

A

Teratogens
Carcinogens
Clastogens
Non-specific

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35
Q

WHAT TYPE OF MUTAGEN: Congenital malformations

A

TERATOGEN

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36
Q

WHAT TYPE OF MUTAGEN: chromosomal abnormalities

A

CLASTO

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37
Q

WHAT TYPE OF MUTAGEN: DNA damage

A

NON-SPECIFIC

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38
Q

WHAT TYPE OF MUTAGEN: Tumor formation, cancer causing agents

A

CARCINO

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39
Q

CLASSIFICATION OF MUTAGENS?

A

PHYSICAL
CHEMICAL
BIOLOGICAL

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40
Q

EXOGENOUS OR ENDOGENOUS: UV-light

A

Exo

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41
Q

EXOGENOUS OR ENDOGENOUS: Smoking

A

EXO

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42
Q

EXOGENOUS OR ENDOGENOUS: Reactive oxygen species

A

Both

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43
Q

EXOGENOUS OR ENDOGENOUS: Spontaneous or enzymatic DNA base modifications

A

ENDO

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44
Q

EXOGENOUS OR ENDOGENOUS: DNA replication error

A

ENDO

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45
Q

WHAT DAMAGING AGENT: Dipyrimidine photoproducts

A

UV

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46
Q

WHAT DAMAGING AGENT: Bulky DNA adducts at guanines

A

Smoking (Benzopyrene)

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47
Q

WHAT DAMAGING AGENT: Oxidation of guanine

A

Reactive O2 species

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48
Q

WHAT DAMAGING AGENT: Deamination of 5-methylcytosine or cytosine

A

SPONTANEOUS OR ENZYMATIC DNA BASE MODIFICATIONS

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49
Q

WHAT DAMAGING AGENT: mismatch

A

DNA REPLICATION ERROR

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50
Q

Types of chemical mutagens?

A

Base analogs
Base altering agents
Intercalating agents

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51
Q

Types of Base altering agents?

A

Deaminating agents
Hydroxylating agents
Alkylating agents

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52
Q

Mutations based on cell type?

A

Somatic
Germ Line

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53
Q

SOMATIC OR GERM LINE: Occurs in nonreproductive cells

A

SOMATIC

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54
Q

SOMATIC OR GERM LINE: Can yield a genotypic mixture (mosaic) of normal and mutant tissue

A

SOMATIC

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55
Q

SOMATIC OR GERM LINE: Most common cancers

A

SOMATIC

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56
Q

SOMATIC OR GERM LINE: Autosomal

A

SOMATIC

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57
Q

SOMATIC OR GERM LINE: non-inheritable

A

SOMATIC

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58
Q

SOMATIC OR GERM LINE: Occurs in reproductive cells

A

GERM

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59
Q

SOMATIC OR GERM LINE: common in sperm cells

A

GERM

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60
Q

SOMATIC OR GERM LINE: Inherited

A

GERM

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61
Q

What kind of mutations are common in sperm cells?

A

de novo

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62
Q

T or F: In germ line mutations, not all inherit or have the mutation

A

F, all have the mutations

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63
Q

In somatic mutations do all offspring have the mutation?

A

No, it is not inheritable

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64
Q

Mutations based on expression?

A

Conditional
Unconditional

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65
Q

TYPE OF MUTATION BASED ON EXPRESSION: Expressed only under restrictive conditions

A

CONDITIONAL

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66
Q

TYPE OF MUTATION BASED ON EXPRESSION: Effect of mutation can be turned on or off by experimenter

A

CONDITIONAL

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67
Q

Effect of mutation can be turned on or off by experimenter through the use of?

A

Transcription factors that turn off/on the gene

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68
Q

TYPE OF MUTATION BASED ON EXPRESSION: Expressed under permissive conditions as well as restrictive conditions

A

UNCONDITIONAL

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69
Q

“Normal conditions”

A

Permissive conditions

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70
Q

What precipitates conditional expressions?

A

Restrictive conditions

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71
Q

Types of mutations based on effect on function?

A

Loss of/amorphic (Knockout or null)
Hypermorphic (Leaky) – loss of

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72
Q

WHAT TYPE OF MUTATION BASED ON EFFECT ON FUNCTION: Eliminates normal function

A

LOSS OF

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73
Q

WHAT TYPE OF MUTATION BASED ON EFFECT ON FUNCTION: Results in complete gene inactivation or in a completely nonfunctional gene product

A

LOSS OF

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74
Q

Loss of function results in complete gene inactivation or in a completely nonfunctional gene product through?

A

Deletion of all or part of a gene or deletion of the part of the gene that helps in its expression

Amino acid replacement that inactivates the protein

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75
Q

Example of amoprhic gene?

A

Bombay phenotype

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76
Q

WHAT TYPE OF MUTATION BASED ON EFFECT ON FUNCTION: still has level of expression but it is severely reduced

A

LOSS OF

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77
Q

WHAT TYPE OF MUTATION BASED ON EFFECT ON FUNCTION: Reduces normal function, but does not eliminate, the level of expression of a gene or the activity of the gene product

A

LOSS OF

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78
Q

Individuals with loss of function may have enough enzyme activity to ____ to produce a quasi- normal phenotype

A

“leak through”

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79
Q

LOSS OF OR GAIN OF: Hypermorphic

A

GAIN

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80
Q

LOSS OF OR GAIN OF: Increases normal function; produces a greater than normal level of gene expression

A

GAIN

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81
Q

LOSS OF OR GAIN OF: ectopic expression

A

GAIN OF

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82
Q

WHAT MUTATION BASED ON EFFECT OF FUNCTION: Expressed at incorrect time or in inappropriate cell types

A

NEOMORPHIC

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83
Q

WHAT MUTATION BASED ON EFFECT OF FUNCTION: Qualitatively alters the action of a gene

A

NEMORPHIC

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84
Q

LOSS OF OR GAIN OF: Neomorphic

A

GAIN OF

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85
Q

WHAT MUTATION BASED ON EFFECT OF FUNCTION: Mutant gene product interferes with normal gene product

A

ANTIMORPHIC

86
Q

LOSS OF OR GAIN OF: Antimorphic

A

LOSS OF

87
Q

WHAT MUTATION BASED ON EFFECT OF FUNCTION: creating abnormal proteins that replaces the normal one

A

ANTIMORPHIC

88
Q

Recessive mutations are usually (gain of/loss of) function.

A

LOSS OF

89
Q

Dominant mutations are usually (gain of/loss of) function.

A

BOTH

90
Q

MUTATIONS BASED ON MOLECULAR CHANGE?

A

Substitutions
* Deletions
* Insertions
* Duplications
Inversions
* Translocations

91
Q

In molecular genetics,
base pair substitutions are also termed?

A

point mutations

92
Q

In classical genetics, point mutations denote?

A

any mutation small enough to be unobservable under a microscope

93
Q

MUTATIONS Based on Molecular Change: Most common type of mutation

A

SUBSTITUTIONS

94
Q

MUTATIONS Based on Molecular Change: Replacement of a single nucleotide by another

A

SUBSTITUTIONS

95
Q

TYPES OF SUBSTITUTIONS?

A

TRANSITION
TRANSVERSION

96
Q

TYPE OF SUBSTITUTION: Replacement by the same type of nucleotide

A

TRANSITION

97
Q

TYPE OF SUBSTITUTION: pyrimidine for a pyrimidine (C for T or vice versa)

A

TRANSITION

98
Q

TYPE OF SUBSTITUTION: Most frequent due to CpG dinucleotides

A

TRANSITION

99
Q

TYPE OF SUBSTITUTION: purine for a purine (A for G or vice versa)

A

TRANSITION

100
Q

TYPE OF SUBSTITUTION: Substitution of a pyrimidine by a purine or vice versa

A

TRANSVERSION

101
Q

TYPE OF SUBSTITUTION: More silent

A

TRANSITION

102
Q

TRANSITION VS TRANSVERSION: Most common type of point mutation

A

TRANSITION

103
Q

TRANSITION VS TRANSVERSION: 2 possible

A

TRANSVERSION

104
Q

TRANSITION VS TRANSVERSION: One possible only

A

TRANSITION

105
Q

TRANSITION VS TRANSVERSION: more likely to cause amino acid sequence changes, more pronounced effect on the resulting protein

A

TRANSVERSION

106
Q

TRANSITION VS TRANSVERSION: Less likely to cause AA sequences, silent mutation

A

TRANSITION

107
Q

TRANSITION VS TRANSVERSION: Interchanges between bases within single ring structures

A

TRANSITION

108
Q

MUTATIONS Based on Molecular Change: Involves the loss of one or more nucleotides

A

DELETIONS

109
Q

TYPES OF DELETION PATTERNS?

A

MULTIPLES OF 3 NUCLEOTIDES (CODON)

NOT MULTIPLE OF 3

LARGE DELETION

110
Q

WHAT DEL PATTERN: Deletion of amino acids that may affect protein function or stability

A

Multiple of 3 nucleotides (codon)

111
Q

WHAT DEL PATTERN: Likely results to frameshift mutation

A

Not multiple of 3

112
Q

WHAT DEL PATTERN: May arise through unequal crossover between repeat sequences

A

Large deletion

113
Q

WHAT DEL PATTERN: Either: Partial gene deletion or Whole gene deletion

A

Large deletion

114
Q

Three-base deletion in the common cystic fibrosis (CF) allele results in synthesis of a protein that lacks amino acid ______

A

508 (phenylalanine).

115
Q

MUTATION Based on Molecular Change: Involves the addition of one or more nucleotides into a gene

A

INSERTION

116
Q

TYPES OF INSERTION PATTERNS?

A

Multiple of 3 nucleotides (codon)
Not multiple of 3
Large insertion
Expansion of trinucleotide repeat (most contain C and/or G)

117
Q

WHAT TYPES OF INSERTION PATTERNS: Insertion of amino acids that may affect protein function or stability

A

Multiple of 3 nucleotides (codon)

118
Q

WHAT TYPES OF INSERTION PATTERNS: Likely results to frameshift mutation

A

Not multiple of 3

119
Q

WHAT TYPES OF INSERTION PATTERNS: Results from unequal crossover (e.g., hereditary sensory and motor neuropathy type 1a) or the insertion of transposable elements
Either: Partial gene duplication or Whole gene duplication

A

Large insertion

120
Q

WHAT TYPES OF INSERTION PATTERNS: Amplification of a sequence of three nucleotides, which prevents normal expression of the gene

A

Expansion of trinucleotide repeat (most contain C and/or G)

121
Q

WHAT TYPES OF INSERTION PATTERNS: Involves dynamic mutations wherein the repeat sequence becomes more unstable as it expands in size

A

Expansion of trinucleotide repeat (most contain C and/or G)

122
Q

Possible causes of Expansion of trinucleotide repeat (most contain C and/or G)?

A

Unequal sister chromatid exchange on nonreplicating DNA

Slipped-strand mispairing and polymerase slippage in replicating DNA

123
Q

Examples of disorders on the Expansion of trinucleotide repeat (most contain C and/or G)?

A

Fragile X syndrome (FMR1 gene) – CGG
Mutation
repeats

Huntington disease (HTT gene) – CAG repeats

Myotonic dystrophy (DMPK gene) – CTG repeats

Friedreich ataxia (FXN1 gene) – GAA repeats

124
Q

MUTATIONS Based on Effect on Protein Products?

A

Synonymous
Nonsynonymous

125
Q

SYNO OR NONSYNO: Silent

A

SYNO

126
Q

Types of non synonymous mutations?

A

Missense mutations
Nonsense mutations Frameshift mutations

127
Q

SYNO OR NONSYNO: Mutation does not alter the polypeptide product of the gene

A

SYNO

128
Q

WHAT IS REFERRED TO AS “Base substitution occurs but does not change the amino acid sequence”

A

Silent mutations

129
Q

SYNO OR NONSYNO: Mutation leads to an alteration in the encoded polypeptide

A

NONSYNO

130
Q

SYNO OR NONSYNO: Likely to result in abnormal function, which is usually associated with disease,
or lethality

A

NONSYNO

131
Q

WHAT TYPE OF NONSYNO: Base-pair substitutions that produce a change in a single amino acid

A

MISSENSE

132
Q

WHAT TYPE OF NONSYNO: Change in amino acid may affect the protein structure

A

MISSENSE

133
Q

WHAT TYPE OF NONSYNO: Sickle cell anemia

A

MISSENSE

134
Q

Sickle cell anemia affects?

A

β-globin chain of hemoglobin at the position G

135
Q

What happens with the AA sequence changes in hemoglobin?

A

Hb crystallizes when O2 levels are low, causing RBCs to sickle and get stuck in small blood vessels

136
Q

WHAT TYPE OF NONSYNO: Base-pair substitutions that produce a stop codon in the mRNA

A

Nonsense mutations

137
Q

WHAT TYPE OF NONSYNO: Result in a premature termination of the polypeptide chain

A

Nonsense

138
Q

Base-pair substitutions that produce a stop codon in the mRNA results in?

A

premature termination of the polypeptide chain

139
Q

WHAT TYPE OF NONSYNO: Unlikely to retain normal biological activity, especially when there is a loss of an important functional domain(s) of the protein

A

Nonsense

140
Q

What is an example of nonsense mutation?

A

β0-thalassemia

141
Q

β0-thalassemia affects what in hemoglobin?

A

β-globin chain wherein codon for glutamine (CAG) creates a stop codon (UAG) as U is substituted for C

142
Q

WHAT TYPE OF NONSYNO: When a mutation involves the insertion or deletion of nucleotides that are not a multiple of three, it will disrupt the reading frame

A

Frameshift mutations

143
Q

WHAT TYPE OF NONSYNO: Resulting amino acid sequence bears no resemblance to the normal sequence and may have an adverse effect on its function

A

Frameshift mutations

144
Q

Example of frameshift mutation?

A

Single-base deletion at the ABO (glycosyltransferase) locus, leading to a frameshift mutation responsible for the O allele.

Tay-Sachs disease

145
Q

How is there frameshift in Tay-Sachs disease?

A

Four-base insertion in the hexosaminidase A gene

146
Q

What is caused by greater than or equal to 40-121 CAG repeats?

A

HD

147
Q

What level of penetrance of HD is 36-39 CAG repeats?

A

Reduced penetrance

148
Q

What level of penetrance of HD is 27-35 CAG repeats?

A

Mutable Normal Allele

149
Q

What level of penetrance of HD is less than or equal to 26 CAG repeats?

A

Normal alleles

150
Q

Types of splice site mutations?

A

Exon Skipping
Intron inclusion
Cryptic splice site use

151
Q

T OR F: All polymorphisms are equally detrimental for all populations

A

F, can be harmless to another and harmful to one

152
Q

When do somatic mutations usually occur?

A

Before mitosis

153
Q

When do germ line mutations usually occur?

A

DNA replication preceding meiosis

154
Q

Most mutations are spontaneous or induced?

A

Spontaneous

155
Q

“Surprise” mutation

A

Spontaneous

156
Q

Spontaneous mutation usually originates as an error in?

A

DNA replication

157
Q

What triggers spontaneous mutations?

A

DNA bases existing in tautomers which can be inserted into the newly formed DNA causing errors

158
Q

T or F: Different genes have different spontaneous mutation rates

A

T

159
Q

Spontaneous mutation lies behind many instances of? Give an example disease

A

Somatic mutation
Proteus syndrome

160
Q

Spontaneous mutation also manifests as?

A

Gonadal mosaicism

161
Q

Why can mitochondrial genes mutate at a higher rate than the nucleus?

A

Mitochondria cannot repair their DNA

162
Q

Spontaneous mutation rate can be computed by?

A

de novo cases / 2X (X = individuals examined)
*2 is for non mutated homologous chromosome

163
Q

T or F: Spontaneous mutations are hard to assess

A

T

164
Q

Where are mutations more likely to occur?

A

Hotspots

165
Q

What dyes remove or add a single DNA base for induced mutations?

A

Acridine

166
Q

Best known test for mutagenicity of substance?

A

Ames test - uses a strain of Salmonella that cannot grow when histidine is absent

167
Q

T or F: Chemical mutagens are only artificial

A

F, can be seen in the environment

168
Q

What mutation is seen only in certain conditions?

A

Conditional mutation

169
Q

How to avoid conditional mutation?

A

Avoid exposure to certain triggers

170
Q

T or F: Point mutations are visible under the microscope

A

F, unobservable

171
Q

Until how many base pair inversions are NOT seen in karyotypes?

A

~500 pairs

172
Q

Who are resistant to malaria?

A

Homozygous HbS and HbC individuals

173
Q

Who is (+) for sickle cell anemia? HbS or HbC?

A

HbS

174
Q

HbS and HbC result from?

A

Mutation in the 6th amino acid in the beta-globin polypeptide

175
Q

If the beta-globing chain is dysfunctional, what happens?

A

RBC will crystallize and become sickle cell

176
Q

Detects numerical and gross structural aberrations

A

Karyotypes

177
Q

Detects trisomies, monogamies, and microdeletions

A

FISH

178
Q

Detects copy number variations of genetic material

A

CGH

179
Q

Depends on the melting point of DNA to detect its ability to stick

A

PCR testing

180
Q

Detects missense mutations

A

PTT

181
Q

A specific DNA sequence that varies in number of copies from person to person

A

Copy Number Variant

182
Q

What causes exon skipping?

A

A missense mutation that includes intron splicing sites in places where it should not be

183
Q

Point mutation that alters the site where introns are normally removes from the mRNA

A

Splice-site mutation

184
Q

Why is retaining an intron unusual?

A

Because it has stop codons

185
Q

What are predictable because we are able to identify which codons can mutate to become a stop codon?

A

Nonsense mutations

186
Q

What kind of mutagen: Halouracil and nitrogen mustard

A

Chemical

187
Q

What kind of mutagen: Virus and bacteria

A

Biological

188
Q

What kind of mutagen: X-rays and gamma rays

A

Physical

189
Q

A point mutation can greatly affect a gene’s product if it alters a site where introns are normally removed from the DNA. This is called a ____ mutation

A

Splice site

190
Q

Thymine and cytosine dimerization are seen in ____ exposure in direct sunlight

A

UV-C

191
Q

What is the most energetic ionizing radiations?

A

Gamma rays

192
Q

A missense mutation that created an intron splicing site where there should not be one can cause ____, which removes a few contiguous AAs from the protein product

A

Exon skipping/ Frameshift

193
Q

Major source of exposure to human-made radiation

A

X rays

194
Q

Biological agent implicated in t8;14

A

Virus (EBV)

195
Q

Mutagen used to label cells are like thymine but can pair up with either adenine or guanine which causes DNA replication

A

Bromouridine

196
Q

The BS allele combined with a ____ HBB allele results in HbSB thalassemia disorder which is generally milder than sickle cell anemia

A

Leaky

197
Q

Cytosines in ____ dinucleotides can be methylated to form 5-methylcytosines

A

CpG

198
Q

Mutation of p53 gene is common in tobacco cancers, with a variation in the amount of G to T _____ in lung cancer from smokers and non-smokers

A

Transversions

199
Q

T or F: Germ line mutation is the most common cause of cancers

A

F, somatic

200
Q

T or F: Germ line mutation happens in egg and sperm cells

A

T

201
Q

T or F: Genetic mutation have no effect on the individual at all

A

T

202
Q

T or F: Silent mutations are not associated with any diseases

A

T

203
Q

The methylation of __________ results in stable silencing of gene expression

A

CpG islands

204
Q

The _____________ of CpG islands results in __________________ of gene expression

A

methylation
stable silencing

205
Q

When do somatic mutations occur?

A

Before mitosis

206
Q

When do germ line mutations occur?

A

During DNA replication before meiosis

207
Q

How many CGG repeats in Fragile X syndrome is still viable for wild type phenotype?

A

30

208
Q

How many CGG repeats in fragile X syndrome cause pre-mutation?

A

50-200

209
Q

How many CGG repeats in fragile X syndrome cause the mutant allele?

A

> 230, heavy methylation prevents normal transcription

210
Q

What amino acid is affected in the missense mutation of sickle cell anemia?

A

Glutamic acid

2nd Year 2nd Term (38 decks)

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