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Applied Biochem > DNA Repair And How Mutations Occur- Exam IV > Flashcards

DNA Repair And How 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 cycled needed for cell division:

A

DNA replication

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2
Q

Change in DNA sequence from a parental strand to a daughter strand :

A

DNA mutation

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3
Q

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

A

Function DNA mutations

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4
Q

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

A

Mitosis

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5
Q

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

A

Meiosis

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6
Q

Changes in the nucleotide sequence of a chromosome that caused disease:

A

Gene mutation that is responsible for disorders

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7
Q

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

A
  1. Deletion
  2. Insertions
  3. Substitution
  4. Silence
  5. Missense
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8
Q

An identifiable segment of DNA sequence with a known physical location on a chromosome and enough variation between individuals.

A

Genetic marker

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9
Q

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

A

Traced

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10
Q

Can help link an inherited disease with the responsible genes:

A

Genetic markers

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11
Q

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

A

Inherited together

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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

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13
Q

Genetic markers are used in:

A

Linkage analysis

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14
Q

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

A

Single Nucleotide Polymorphisms

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15
Q

DNA sequence variants of a gene:

A

Alleles

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16
Q

Mechanisms by which deaminated and depurinated nucleotides are repaired:

A

Base excision repair

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17
Q

Mechanisms by which pyrimidine dimers are repaired:

A

Nucleotide excision repair

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18
Q

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

A

Holiday junction

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19
Q

DNA is under constant pressure to _____ in its DNA sequence

A

Acquire changes

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20
Q

Most changes in DNA are repaired before they become:

A

Stable part of DNA passed on to daughter cells

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21
Q

When mutations occur in somatic tissues:

A

They CANNOT be inherited

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22
Q

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

A

Give rise to diseases such as cancer

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23
Q

When mutations arise in the DNA of gametes:

A

They will be passed on to the offspring

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24
Q

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

A
  1. Rearrangements
  2. Translocations
  3. Deletions
  4. Insertions
  5. Duplications
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25
Q

Single gene disorders can be: (3)

A
  1. Dominant
  2. Recessive
  3. Co-dominant
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26
Q

A _____ can give rise to disease:

A

Single base pair change

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27
Q

Involve large chunks of DNA getting moved around:

A

Chromosome disorders

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28
Q

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

A

Multi factorial or complex disorders

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29
Q

Disorders that involve the X and Y chomosomes

A

Sex-linked

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30
Q

Mechanisms that cause mutations in the mitochondrial DNA

A

Mitochondrial Disorders

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31
Q

Somatic mutations are _____, while germline mutations are ______.

A

Non-inheritable; inheritable

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32
Q

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

A

Somatic mutation

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33
Q

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

A

Somatic mutation

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34
Q

A mutation that affects the sperm or egg:

A

Germline mutation

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35
Q

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

A

Germline mutation

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36
Q

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

A

Spontaneous mutations

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37
Q

mutations caused by exposure of environmental insults:

A

Induced mutations

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38
Q

Environmental insults that can cause induced mutations include:

A

Radiation & chemicals

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39
Q

Mutation in which the DNA sequence is altered but results in NO CHANGE in amino acid

A

Silent mutation

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40
Q

A mutation that results in a SINGLE AMINO ACID CHANGE:

A

Missense mutation

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41
Q

Mutation resulting in a codon being produced that stops translation and producing a truncated protein:

A

Nonsense

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42
Q

Nonsense mutations ultimately result in:

A

Truncated proteins

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43
Q

Mutations that disrupts the reading frame from insertion or deletion of a base:

A

Framshift

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44
Q

A mutation that results in a glycine being substituted for a valine would be:

A

Missense mutation

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45
Q

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

A

Nonsense

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46
Q

A purine getting exchanged for another purine, or a pyramidine being replaced by another pyramidine:

A

Transition

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47
Q

A purine being substituted for a pyramidine (and pretty sure vice versa):

A

Transversion

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48
Q

A type of mutation resulting in extra amino acids:

A

Insertion

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49
Q

A type of mutation resulting in missing amino acids:

A

Insertion

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50
Q

Maybe you have a single nucleotide deletion or insertion, and since the messenger RNA reads eery 3 nucleotides instead of it reading 1,2,3, its now reading 2, 3, 4 resulting in an altered protein:

A

Frameshift

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51
Q

A frameshift mutation typically results in:

A

The wrong amino acid being placed

52
Q

Cystic fibrosis is due to a:

A

3 base deletion of Delta F 509 (phenylalanine)

53
Q

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

A
  1. Promotor/Enhancers (nuclear receptors)
  2. Splice site
  3. Expanded repeat
  4. Transposons
54
Q

Promotors and enhancers are:

A

Nuclear receptors

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

56
Q

Mutating and important enhancer will:

A

Change the level of gene expression (amount of protein being made)

57
Q

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

A

Enhancers

58
Q

If you effect the way the RNA gets spliced, you can get a protein with the incorrect information in it: what mutation is this:

A

Splice site mutation

59
Q

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

A

Expanded repeat mutation

60
Q

Hunnington’s disease is caused by:

A

Expanded repeat mutation

61
Q

Mobile genetic elements that jump around in the genome and dependent upon where they get inserted can cause changes in gene expression:

A

Transposons

62
Q

This is an example of:

A

Silent mutation

63
Q

This is an example of:

A

Missense mutation

64
Q

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

A
  1. Amino acid change
  2. Position in genomic DNA
  3. Position in messenger RNA
  4. Position in cDNA
  5. Changes in the protein
65
Q

What 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 ______ is changed to a ______

A

1215; threonine

67
Q

Single base bare differences at a specific position in the genome:

A

SNPs

68
Q

SNPs occurring within a gene can give rise to:

A

An allele

69
Q

How many SNPs are there in the genome?

A

Millions

70
Q

We use SNPs to help us 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

Maintains the genetic stability that an organism needs for survival requires not only an extremely accurate mechanisms for ______ but also mechanisms for repairing ________.

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 mechansism

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 mutation

77
Q

DNA of each human cells losers about ______ bases everyday.

A

5000 purine bases

78
Q

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

A

Deoxyribose hydrolyzation of N-glycosyl linkages

79
Q

The spontaneous reaction of deoxyribose hydrolyzation of N-glycosyl linkages:

A

Dupurination

80
Q

A spontaneous Deamination of cytosine to uracil in DNA occurs at a rate of:

A

About 100 bases per cell per day

81
Q

DNA bases are also occasionally damage 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 and what bases are affected in DNA when thymine dimers are formed due to UV?

A

Covalent linkage; Pyrimidines

84
Q

Hydrolytic attach includes:

A

Deamination & Depurination

85
Q

What is the most frequent spontaneous chemical reactions?

A

Hydrolytic attack

86
Q

Oxidative damage to the DNA occurs due to the generation of:

A

Reactive oxygen species

87
Q

Hydrolytic attacks cleave off a base so you 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 teh 5-methyl C nucleotides are accidentally deaminated, they form the natural:

A

Nucleotide T

90
Q

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

A

G; mismatched base

91
Q

About 1/3 o f the inherited human disorders are:

A

Single base mutations

92
Q

The spontaneous deamination products of A and G are recognizes as unnatural when they occur in DNA and this are:

A

Readily recognized and repaired

93
Q

Unnatural bases are recognized and removed by a specific:

A

DNA glycosylase

94
Q

The process of unnatural bases being recognized and removed by a 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 means no deamination because there no amino group to remove

96
Q

Cytosine to uracil in DNA that is estimated to occur at a rate of 100 baes 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 premutagenic lesions that alter the structure of DNA and consequently inhibit ____ & arrest _____.

A

Polymerase & arrest 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 produces mutation in the case of deamination:

A

DNA substitution (point mutation)

102
Q

How do chemical modification of nucleotides produce mutation in the case of depurinations?

A

DNA deletions

103
Q

in both Deamination and depurinations, one strand:

A

Remains unchanged

104
Q

Process that involves a specific nuclear that carves out a region of the strand that has the thymine dimer, and then removes the damaged DNA and then polymerase and 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 kick 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 a pyrimidine base:

A

AP site (apurinic/apyridinic 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 and dirty

109
Q

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

A

Blunt ends

110
Q

When a few nucleotides get removed from the sequence through the the quick and dirty process:

A

Scars

111
Q

Homologous recombination only occurs in what phases?

A

S and G2

112
Q

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

A

Homologous recombination

113
Q

Both non-homologous end jointing and homologous recombination result in the delay of progression from:

A

G1 to S phase & S to M phases

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 severe phenotype:

A

Homozygous dominant

117
Q

in ____ genes you only observe the phenotype in the homozygous state:

A

Recessive

118
Q

The phenotype of a _____ gene will be observed in the homozygous or heterozygous state:

A

Dominant gene

119
Q

Fancy way of saying you one copy of your gene from mom and one copy of the gene from dad:

A

Principle of segregation

120
Q

Sexually reproducing organisms possess genes that occur in pairs and that only one number this pair is transmitted from the offspring:

A

Principle of segregation

121
Q

Genes at different loci are transmitted independently:

A

Principle of independent assortment

122
Q

Just because you inherit a copy of gene A does mean you’re always going to inherit copy A of another gene

A

Principle of independent assortment

123
Q

Mechanisms to:

  1. Accurately repair doubled strand DNA breaks
  2. Exchange bits of genetic information
  3. Assures accurate chromosome segregation during meiosis
A

Homologous recombination

124
Q

Homologous recombination has many common features that are found in all cells and its guided by:

A

DNA base pairing

125
Q

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

A

Disease

Applied Biochem (18 decks)

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