Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Applied Biochemistry > DNA Repair & How Do Mutations Occur (Exam IV) > Flashcards

DNA Repair & How Do Mutations Occur (Exam IV) Flashcards

1
Q

Cellular synthesis of new daughter strands of DNA from a parental strand during the s phase of the cell cycle needed for cell division

A

DNA replication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Change in DNA sequence form a parental strand to a daughter strand

A

DNA mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Result in altered gene expression, splicing or altered proteins generated from the mutated DNA sequence

A

Functional DNA mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Division of the nucleus of eukaryotic cell, involving condensation of the DNA into visible chromosome & separation of the duplicated chromosome to form two identical sets

A

Mitosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Special type of cell division that occurs in sexual reproduction & involves two successive nuclear divisions with only one round of DNA replication, thereby producing haploid cells from a diploid cell

A

Meiosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Changes in the nucleotide sequence of a chromosomes that cause disease

A

Gene mutation responsible for disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

List the single base pair substitutions that may or may not result in disorders (5):

A

Deletion
Insertion
Substitution
Silent
Missense

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

An identifiable segment of DNA sequence with a known physical location on a chromosomes & enough variation between individuals

A

Genetic marker

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

The inheritance & co-inheritance of alleles of a given gene in genetic markers can be:

A

Traced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Can help link an inherited disease with the responsible genes

A

Genetic markers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

DNA segments close to eachother on a chromosome tend to be:

A

Inherited together

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Used to track the inheritance of a nearby gene that has not yet been identified but whose approximate location is known

A

Genetic markers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Genetic markers are used in:

A

Linkage analysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Variation between individuals in a population at specific nucleotides in their DNA sequence

A

Single nucleotide polymorphisms (SNPs)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

DNA sequence variants of a gene

A

Alleles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Mechanism by which delaminated and depurinated nucleotides are repaired

A

Base excision repaur

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Mechanism by which pyrimidine dimers are repaired

A

Nucleotide excision repair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Formed during homologous recombination which allows DNA strands to switch partners between two DNA double helices

A

Holiday junction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

DNA is under constant pressure to ____ in its DNA sequence

A

Acquire changes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Most changes in DNA are repaired before they become

A

A stable part of DNA passed onto the daughter cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

When mutations occur in somatic tissues:

A

They CANNOT be inherited

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Although mutations in somatic tissues CANNOT be inherited, they CAN:

A

Give rise to diseases such as cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

When mutations arise in the DNA of gametes:

A

They will be passed on to the offspring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

List the chromosome disorders that can cause genetic disease (5):

A

1- rearrangements
2- translocations
3- deletions
4- insertions
5- duplications

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Single gene disorders can be (3):

A

Dominant
Recessive
Codominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

A ______ can give rise to disease

A

Single base pair change

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Involve large chunks of DNA that get moved around

A

Chromosome disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Genetic diseases caused by multigenic or gene-environment interactions that can occur & contribute to the formation of a complex trait

A

Multifactorial or Complex disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Disorders that involve the X & Y chromosomes

A

Sex-linked

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Mechanisms that cause mutations in the mitochondrial DNA & affect the genes they encode resulting in genetic disease

A

Mitochondrial disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Somatic mutations are ____ while germline mutations are ____

A

Non-inheritable
Inheritable

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

A mutation caused by cigarette smoking resulting in lung cancer would be categorized as:

A

Somatic mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

A mutation in the p53 gene that typically would cause a form of cancer would be categorized as:

A

Somatic mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

A mutation that affects the sperm or egg:

A

Germline mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Mutations that can be passed on to your children dependent upon the degree of the mutation

A

Germline mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Mutations that arise naturally during DNA replication (mitosis) or during meiosis

A

Spontaneous mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Mutations caused by exposure to environmental insults

A

Induced mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Environmental insults that cause can induced mutations include:

A

Radiation
Chemicals

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

A mutation in which the DNA sequence is altered but results in no change of amino acid

A

Silent mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

A mutation that results in a single amino acid change

A

Missense mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

A mutation resulting in a codon being products ultimately stopping translation & producing a truncated protein

A

Nonsense mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Nonsense mutations ultimately result in:

A

Truncated proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Mutations that disrupt the reading frame insertion or deletion of a base

A

Frameshift mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

A mutation resulting in a glycine getting substituted for a valine would be a:

A

Missense mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

The LRP5 mutation resulting in osteoporosis pseudoglioma syndrome producing truncated proteins is an example of:

A

Nonsense mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

A purine getting exchanged for another purine or pyrimidine getting replaced by another pyrimidine is considered:

A

Transition mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

A purine getting substituted for a pyrimidine (vice versa)

A

Transversion mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

A type of mutation resulting in extra amino acids

A

Insertion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

A type of mutation resulting in missing amino acids

A

Deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Maybe you have a single nucleotide deletion or insertion & because the mRNA reads every three nucleotides instead of it reading 1, 2, 3 its now reading 2, 3, 4 resulting in an altered protein- this is an example of:

A

Frameshift mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

A Frameshift mutation typically results in the:

A

wrong amino acid being placed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Cystic fibrosis is due to a _____ mutation

A

3 base deletion of deltaF509 (phenylalanine)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

List the types of mutations that don’t necessarily affect the protein being made but may affect the amount of or expression of the protein (4):

A

1- promotor/enhancers (nuclear receptors)
2- splice site
3- expanded repeat
4- transposons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Promotors & enhancers are

A

Nuclear receptors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Important for regulating the binding of a nuclear receptor to the DNA to tell that gene to be expressed or not expressed

A

Promotor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Mutating an important enhancer will:

A

Change the level of gene expression (amount of protein that gets made)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

A class of sequencing elements found in DNA that are associated with the level of transcription & can be great distances from the start site of transcription

A

Enhancers

58
Q

A mutation affecting the way the mRNA is spliced ultimately resulting in a protein with incorrect information in it

A

Splice site mutations

59
Q

Where you would typically have a small repeat element of amino acids in DNA that gets exacerbated into a huge repeat element

A

Expanded repeat mutation

60
Q

Huntington’s disease is caused by a ______ mutation

A

Expanded repeat

61
Q

Mobile genetic elements that jump around in the genome & dependent upon where they are inserted can cause changes in gene expression

A

Transposons

62
Q

Name the type of mutation

A

Silent

63
Q

Name the type of mutation

A

Missense

64
Q

Mutations can be designed by (nomenclature) (5):

A

1- amino acid change
2- position in genomic DNA
3- position in mRNA
4- position in cDNA
5- changes in the protein

65
Q

Type of system is used in regards to nomenclature of mutations

A

Coordinate system

66
Q

The mutation A1215T would mean:

Alanine at the position ____ in the protein is changed to a ____

A

1215; threonine

67
Q

Single base pair differences at a specific position in the genome

A

SNPs

68
Q

SNPs occurring within a gene can give rise to an:

A

Allele

69
Q

How many SNPs are in the genome

A

Millions

70
Q

We use SNPs to help identify where ______ might be located

A

Allele or trait causing mutations

71
Q

Why do cells in our body need DNA repair

A

To have a mechanism to maintain genetic stability

72
Q

Maintaining the genetic stability that an organism needs for survival requires not only an extremely accurate mechanism for ___________ but also mechanisms for repairing ___________ that occur continually in DNA

A

DNA replication
Accidental lesions

73
Q

Most spontaneous changes in DNA are:

A

Temporary

74
Q

Most spontaneous changes in DNA are temporary because:

A

They are immediately corrected through DNA repair mechanisms

75
Q

The importance of DNA repair is evident from the large investment that cells make in:

A

DNA enzymes

76
Q

Following the inactivation of a DNA repair gene, there is an:

A

Increased rate of mutaiton

77
Q

DNA of each human cell loses about ______ bases everyday

A

5000 purine bases

78
Q

Purine bases in DNA are lost daily due to the process of:

A

Deoxyribose hydrolyzation of N-glycosyl linkages

79
Q

The spontaneous reaction of Deoxyribose hydrolyzation of N-glycosyl linkages

A

Depurination

80
Q

A spontaneous deamination of cytosine in uracil in DNA occurs at rate of about _____ per cell per day

A

100 bases

81
Q

DNA bases are also occasionally damaged by an encounter with:

A

Reactive metabolites

82
Q

Ultraviolet radiation from the sun can produce a covalent linkage between two adjacent pyrimidine bases in DNA to form:

A

Thymine dimers

83
Q

What type of linkage is produced & what bases are affected in DNA when thymine dimers are formed due to UV

A

Covalent linkages; pyrimidines

84
Q

Hydrolytic attack includes:

A

Deamination & depurination

85
Q

The most frequent spontaneous reactions

A

Hydrolytic attack

86
Q

Oxidative damage to the DNA occurs due to generation of:

A

Reactive oxygen species

87
Q

Hydrolytic attacks cleave off a base so you now have the deoxyribose base in the chain but:

A

No base associated with it

88
Q

About 3% of the C nucleotides in vertebrate DNAs are _____ to help in controlling gene expression

A

Methylated

89
Q

When 5-methyl cysteine nucleotides are accidentally deaminated they form the natural nucleotide:

A

Thymine

90
Q

When the 5-methyl cytosine nucleotides are accidentally deaminated they form the natural nucleotide thymine however this T will be paired with _____ on the opposite strand, forming a _____

A

Guanine; mismatched base

91
Q

About 1/3 of inherited human disorders are:

A

Single base mutations

92
Q

The spontaneous deamination products of A & G are recognized as unnatural when they occur in DNA and thus are:

A

Readily recognized and repaired

93
Q

Unnatural based are recognized and removed by a specific:

A

DNA glycosylase

94
Q

The process of unnatural bases being removed by specific DNA glycosylase:

A

Base excision repair

95
Q

If we have a hydrolytic attack of:

Adenine —->
Guanine —->
Cytosine —->
Thymine —->

A

Hypoxanthine
Xanthine
Uracil
Thymine= no deamination because there is no amino group to remove

96
Q

Cytosine to uracil in DNA that is estimated to occur at a rate of 100 bases per genome per day

A

Deamination

97
Q

The loss of 5000 A or G bases per day in each daughter cell due to thermal disruption of the N-glycosyl linkages to deoxyribose

A

Depurination

98
Q

Thymine dimers are permutagenic lesions that alter the structure of DNA and consquently inhibit ____ & arrest _____

A

Polymerases
Replication

99
Q

Dimers may be repaired by ____ or ____

A

Photoreactivation or nucleotide excision repair

100
Q

Unrepaired dimers are:

A

Mutagenic

101
Q

How do chemical modifications of nucleotides produce mutations in the case of deamination

A

DNA substitution (point mutation)

102
Q

How do chemical modifications of nucleotides produce mutations in the case of depurinations

A

DNA deletions

103
Q

In both DNA deamination and depurinations one strand:

A

Remains unchanged

104
Q

Process that involves a specific nuclease that Carie’s out a regions of the strand that has the thymine dimer and then removes the damaged DNA & polymerase & ligase come in to heal it by synthesizing the short stretch that has been removed

A

Nucleotide excision repair

105
Q

Single base pair changes often get repaired by _____ that involves a set of enzymes that are involved in removing the nick and replacing it using the other strand as a template to put back the nucleotide that was removed

A

Base excision repair

106
Q

A location in DNA that has neither a purine nor pyrimidine base

A

AP site (apurinic/apyrmidinic site)

107
Q

Double stranded breaks can efficiently be repaired by:

A
  1. Non-homologous end joining
  2. Homologous recombination
108
Q

Non-homologous end joining is considered:

A

Quick & dirty

109
Q

In the non-homologous end joining process- you have a nick in one strand and a nick in the other strand and what happens the nucleotides will be removed to create ______ so there is not extra material there & they can be rejoined

A

Blunt ends

110
Q

When a few nucleotides get removed from the sequence through the quick & dirty repair process these are referred to as:

A

Scars

111
Q

Homologous recombination only occurs in phases:

A

S & G2

112
Q

When the damage of the double stranded break is repaired using information from the sister pair of the chromosomes from that gene

A

Homologous recombination

113
Q

Both non-homologous end joining & homologous recombination result in the delay of progression from:

A

G1 to S phase & S to M phase

114
Q

If each member of a chromosome pair contains the same allele

A

Homozygous

115
Q

If each member of a chromosome pair carries a different allele

A

Heterozygous

116
Q

Generally speaking _____ expresses the most sever phenotype

A

Homozygous dominant

117
Q

But the case of ____ genes you only observe the phenotype in the homozygous recessive state

A

Recessive

118
Q

The phenotype of a _____ gene will be observed in both the homozygous and heterozygous state

A

Dominant

119
Q

Fancy way of saying you inherit one maternal & one paternal copy of a gene

A

Principle of segregation

120
Q

Sexually reproducing organisms possess genes that occur in pairs and that only one ember of this pair is transmitted to the offspring

A

Principle of segregation

121
Q

Gene at different loci are transmitted independently

A

Principle of independent assortment

122
Q

Just because you inherit a copy of gene A doesn’t mean you are always going to inherit copy A of another gene

A

Principle of independent assortment

123
Q

Mechanism to:

1- accurately repair double strand DNA breaks
2- exchange bits of genetic information
3- assures accurate chromosome segregation during meiosis

A

Homologous recombination

124
Q

Homologous recombination has manny common features found in all cells & its guided by:

A

DNA base-pairing

125
Q

In homologous recombination, inadvertent joining of two segments from different chromosomes that result in chromosomal translocations often result in:

A

Disease

126
Q

Homologous recombination repairs double-stranded breaks:

A

Accurately

127
Q

In the process of homologous recombination there is an exonuclease that degrades the ____ ends as DNA synthesis occurs

A

5’

128
Q

In homologous recombination- as the exonuclease is degrading the 5’ ends as DNA synthesis occurs, there is also a migration of one strand onto the sister chromatid of the pair of chromosomes and that then becomes the:

A

Template

129
Q

Hallmark of homologous recombination

A

Holliday junction

130
Q

Kind of a branching point where you see one strand invading the other strand & using the other strand as a template for completing DNA synthesis

A

Holliday junction

131
Q

Cross-strand exchange during homologous recombination

A

Holliday junction

132
Q

The process of two DNA strands switching partner between two double helices creates a:

A

Holliday junction

133
Q

We commonly see homologous recombination action during the _____ process

A

Meiosis

134
Q

Sort of an alternative path that can take place depending on where cleavage takes place in the process of homologous recombination

A

Holliday junction

135
Q

During homologous recombination- depending on where the cleavage takes place will determine whether ______ takes place or not

A

Crossing over

136
Q

During the process of homologous recombination- cleavage location that does not result in crossing over will form a _______ while cleavage that results in the chromosomes crossing over will form a _______

A

Heteroduplex
Cross-over complex

137
Q

Homologous recombination will take place between any two areas dependent upon:

A

How far apart they are

138
Q

Genetic unit that defines the frequency for with which crossing over takes place as a percentage

A

Centimorgan

139
Q

1 centimorgan =

A

1 cross over in 100 meiosis

140
Q

1 centimorgan in DNA corresponds to about:

A

One million basepairs

141
Q

DNA is under constant pressure to:

A

Acquire changes in its DNA sequence

142
Q

Various types of mutations occur in DNA, some of which will give rise to ______ of any given gene

A

Altered protein variants

Applied Biochemistry (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions