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Molecular Genetics exam 1 > Molecular genetics exam 2 > Flashcards

Molecular genetics exam 2 Flashcards

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1
Q

2 categories of mutations

A

somatic vs germline

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2
Q

somatic mutation

A

cannot be passed to offspring

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3
Q

Germline mutation

A

can be passed to offspring bc mutation occurs in oocyte and sperm

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4
Q

Point mutations

A

change of a single base

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5
Q

Silent or synonymous mutation

A

when the change results in the same AA

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6
Q

Missense mutation

A

when the change results in a different AA

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7
Q

Conservative mutation

A

when the change is still the same type of aa such as polar or np

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8
Q

Nonconservative mutation

A

when the change results in a different type of AA such that it results in a differently folded protein

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9
Q

Nonsense mutation

A

Leads to a premature stop codon and degradation of protein occurs

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10
Q

Transitions

A

changing to the same type of base

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11
Q

transversions

A

changing to a different type of base

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12
Q

Frameshift mutation

A

when the insertion or deletion of a nucleotide changes the reading Frame and the sequence of aa

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13
Q

What does a single nucleotide change in hemoglobin result in?

A

A sickle shaped red blood cell that is sticky

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14
Q

Normal individuals may have fewer than __ nucleotide repeats

A

30

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15
Q

Over 20 disorders exhibit over __ nucleotide repeats

A

200

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16
Q

Examples of disorders with over 200 nucleotide repeats

A

Fragile X syndrome, Huntington’s diseases and myotonic dystrophy

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17
Q

isoallele impact on phenotype

A

none or small that can only detected by special techniques

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18
Q

Null allele impact on phenotype

A

No gene product or nonfunctional gene product

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19
Q

Recessive allele impact on phenotype

A

Alter only when homozygous

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20
Q

Gain of function impact on phenotype

A

produce new

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21
Q

neutral impact on phenotype

A

no effect due to degeneracy and order in genetic code

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22
Q

induced mutation

A

result from the influence of an extraneous factor, either natural or artificial

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23
Q

4 examples of induced mutations

A

radiation, UV, natural and synthetic chemical

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24
Q

spontaneous mutations

A

usually linked to normal biological or chemical processes in the organism

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25
Q

During DNA replication, DNA polymerase occasionally inserts incorrect nucleotides due to misfiring and predominantly leads to

A

point mutations through addition or deletion of nucleotides

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26
Q

Replication slippage

A

If a DNA strand loops out and becomes displaced or if DNA polymerase slips, small insertions and deletions can occur

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27
Q

where is replication slippage common

A

in repeat sequences

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28
Q

Deamination

A

Amino group in cytosine or adenine is converted to uracil, and adenine is converted to hypoxanthine

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29
Q

what does Deamination result in?

A

base pair change during replication mispairing

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30
Q

Depurination

A

loss of one of the nitrogenous bases (usually a purine) in an intact double helical DNA molecule

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31
Q

what does deportation result in?

A

Frameshift because pairing cannot occur during replication

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32
Q

Oxidative damage

A

induced by the by products of normal cellular processes and exposure to high energy radiation

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33
Q

examples of things that cause oxidative damage

A

superoxides, hydroxyl radicals, and hydrogen peroxide

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34
Q

what does oxidative damage result in?

A

DNA breaks

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35
Q

Mutagens

A

natural or artificial agents that induce mutations

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36
Q

examples of mutagens

A

fungal toxins, cosmic rays, UV, industrial pollutants, medical x rays, and chemicals in smoke

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37
Q

Base analogs

A

mutagenic chemicals that substitute for purines or pyrimidines during nucleic acid replication

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38
Q

Specific mispairing

A

alter base such that it will mispair

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39
Q

alkylating agents

A

donate an alkyl group to amino or keto groups in nucleotides to alter base pairing affinity

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40
Q

what mutations result from alkylating agents?

A

transition mutations result

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41
Q

Intercalating agents

A

Chemicals that have dimensions and shapes that allow them to wedge between DNA base pairs, causing base pair distortions and unwinding

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42
Q

examples of intercalating agents

A

ethidium bromide and chemotherapeutic agents

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43
Q

Pyrimidine dimers

A

distort the DNA conformation in such a way that errors tend to be introduced during DNA replication

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44
Q

what causes pyrimidine dimers?

A

UV radiation

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45
Q

Transposable elements

A

Sequences that can move about the genome and when they leave it results in DNA damage

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46
Q

what is an example of something that acts as a transposable element?

A

Virus which is why hpv leads to cancer

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47
Q

Ionizing radiation causes __ damage

A

base

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48
Q

What causes ionizing radiation

A

x rays, gamma rays and cosmic rays

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49
Q

what happens during ionizing radiation?

A

stable molecules and atoms are transformed into free radicals

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50
Q

what 3 things does ionizing radiation do?

A

alter purines/pyrimidines, break phosphodiaster bonds, and produce deletions, translocations, and fragmentation

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51
Q

mismatch repair

A

responds after damaged DNA has escaped repair and failed to be completely replicated.

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52
Q

Base excision repair

A

corrects DNA containing a damaged DNA base

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53
Q

3 steps of Base excision repair

A

Exonuclease cuts base, DNA polymerase inserts complementary nucleotides into gap and DNA ligase seals the nick

54
Q

2 steps of mismatch repair

A

excision of segment of DNA that contains a base mismatch followed by repair synthesis. Through a process of recombination

55
Q

Nucleotide excision repair

A

Repairs bulky lesions that alter/distort the double helix

56
Q

3 steps of NER

A

Exonuclease cuts distortion, DNA polymerase inserts nucleotides and DNA ligase seals nick

57
Q

NER may repair

A

pyrimidine dimers

58
Q

Double strand breaks are caused by

A

ionizing radiation

59
Q

DSB have 2 options for repair

A

homologous recombination and non nonhomologous end joining

60
Q

what us the preferred option of repairing DSB

A

homologous recombindation

61
Q

what does non homologous end joining involve?

A

bringing the 2 ends together but it may result in the deletion of some bases

62
Q

steps of homologous recombination

A

Damaged chromosome finds its homologous chromosome (same genes but not exactly the same sequence)
One strand of the damaged chromosome inserts itself into the homologous chromosome between the strands on DNA. It copies the sequence until it has copied all the DNA that was deleted
The damaged chromosome (blue one) will leave the homologous chromosome
The overlap area will match up
The gaps in the DNA will be filled in by DNA polymerase

63
Q

Chromatin modifications can occur in 3 different ways

A

Histone modifications, nucleosomal remodeling, and dna methylation

64
Q

Nucleosome organization

A

DNA molecule is wound 1 and 3/4 turns around a histone October called core particles

65
Q

what are histones made of

A

4 different subunits

66
Q

chromatin remodeling must occur to

A

allow the DNA to be accessed by DNA binding proteins to allow replication and gene expression

67
Q

Histone tails are potential targets along the chromatin fiber for chemical modifications that may include

A

acetylation, methylation, ubiquitination, and phosphorylation

68
Q

Regulating genes via nucleosomes

A

addition or removal of certain groups to the tails of histone proteins disrupts chromatin structure allowing transcription to take place

69
Q

Epigenetic inheritance

A

involves the copying of the histone modifications after the DNA has been replicated

70
Q

how does DNA methylation inhibit transcription?

A

the addition or removal of methyl groups from the bases of DNA can repress transcription by binding to transcription factors in DNA

71
Q

Cis acting elements

A

postion regulator proteins in regions where those proteins can act to stimulate or repress transcription of the associated gene

72
Q

Promotors

A

nucleotide sequences that serve as recognition sites for transcription machinery that are critical for the initiation of transcription and are located adjacent to the genes regulated

73
Q

Examples of cis acting elements

A

enhancers or activators and silencers or repressors

74
Q

activators ___ transcription intitiation whereas repressors ___ TI

A

increase, decrease

75
Q

What do transcription factors do?

A

bind to cis-acting elements

76
Q

2 parts of the transcription factors

A

DNA binding domain and trans activating domain

77
Q

what is the DNA binding domain?

A

Binds to specific DNA sequences in the cis-acting regulatory site

78
Q

what is the trans activating domain

A

Activates or represses transcription by biding to other transcription factors or RNA polymerase

79
Q

What is DNA looping?

A

bending of the DNA such that the transcription factors interact wit the DNA of the transcription complex

80
Q

Enhancer

A

DNA sequence stimulating transcription a distance away from the promotor

81
Q

insulator

A

dna sequence that blocks or insulates the effect of enhancers

82
Q

2 types of post transcriptional processing

A

alternative splicing and RNAinterference

83
Q

Alternative splicing

A

generate different forms of mRNA from identical pre-mRNA giving rise to a number of proteins from one gene

84
Q

Steady state level of mRNA

A

amount in cell

85
Q

The steady state level of mRNA can be regulated by

A

in response to cell needs, through removing cap and tail, and through rna interference

86
Q

How does RNAi occur?

A

Short interfering RNA (siRNA) and microRNA (miRNA) represses mRNA translation ad triggers degradation

87
Q

Explain the process of miRNAs

A

miRNAs are transcribed from DNA to form a hairpin loop which targets them to degradation because they are double stranded. Dicer cleaves the miRNA into smaller pieces where it is packed up by RISC and the short strands target any other mRNA with that sequence

88
Q

Translational control

A

regulates the rate of protein synthesis

89
Q

Posttranslational modifications

A

Stability of a protein can be modulated. protein can change its structure and its activity

90
Q

translation can be regulated to

A

produce the correct quantity of a protein

91
Q

Recombinant DNA technology (genetic engineering)

A

Techniques for locating, isolating, altering, and studying DNA segments

92
Q

Molecular genetics

A

Biotechnology, the use of these techniques to develop new products

93
Q

What do restriction enzymes do?

A

Recognize and cut DNA at specific nucleotide sequences

94
Q

2 ends made by restriction enzymes

A

Blunt and cohesive ends

95
Q

cohesive ends

A

fragments with short, single stranded overhanging ends

96
Q

blunt ends

A

even length ends from both single strands

97
Q

sticky ends allow for

A

2 strands of DNA to come together due to base pairing

98
Q

CRISPR-Cas genome editing

A

makes a double stranded cut at a specific sequence and the dna repair mechanism in the cell repairs the break. Repaired by non homologous end joining or homologous recombination

99
Q

where is CRISPR-Cas found?

A

bacteria and archaea

100
Q

Gel electrophoresis

A

Separates molecules such as DNA or protein based on size and electrical change

101
Q

Southern blotting

A

detect DNA

102
Q

Northern blotting

A

detect RNA

103
Q

western blotting

A

to detect protein

104
Q

Probe

A

dna or rna with a base sequence complementary to a sequence in the gene of interest

105
Q

Purpose of southern blotting

A

determine the presence of a specific gene sequence

106
Q

Purpose of western blot

A

to determine if a protein is being expressed

107
Q

cloning vector

A

a replicating DNA molecule attached with a foreign DNA fragment to be introduced in cell

108
Q

3 things a cloning vector must have

A

origin of replication, selectable markers-traits, and a cleavage site

109
Q

why is an OOR needed in a cloning vector?

A

So that it is replicated along with the DNA that it carries

110
Q

Why are selectable markers needed in a cloning vector?

A

Enables cells containing the vector to be identified or selected

111
Q

why is a cleavage site needed on a cloning vector?

A

it needs a site for each of one or more restriction enzymes used

112
Q

what are plasmids?

A

circular DNA molecules from bacteria

113
Q

what are linkers?

A

synthetic DNA fragments containing restriction sites

114
Q

how does foreign DNA get inserted into plasmids?

A

restriction enzymes

115
Q

what are selectable markers used for in recombinant plasmids?

A

to confirm whether the cells have been transfromed

116
Q

DNA markers

A

short segments of DNA whose sequence and location are known and they represent landmarks along chromosome

117
Q

Name the different types of molecular markers

A

Single nucleotide polymorphisms, restriction fragment length polymorphisms, and microsatellites

118
Q

what are the molecular markers used for?

A

Crime scene investigation, parental disputes, disease diagnosis, determining the type of species in cases of poaching

119
Q

what are micro satellites?

A

short tandem repeats (STR) variable number of copies of repeat sequences possessed by many organisms

120
Q

what are micro satellites detected by?

A

PCR

121
Q

Homozygotes show a

A

single tail peak

122
Q

heterozygotes show

A

2 shorter peaks

123
Q

Forward genetics

A

begins with a phenotype to a gene that encodes the phenotype

124
Q

reverse genetics

A

begins with a gene of unknown function, first inducing mutations and then checking the effect of the mutation on the phenotype

125
Q

transgenic techniques

A

an organism permanently altered by the addition of a DNA sequence to its genome

126
Q

Knockout mice

A

a normal gene of a mouse has been fully disabled

127
Q

transgene

A

the foreign DNA that a transgenic organism carries

128
Q

How are GMOs produced?

A

alteration of an organisms genome using recombinant DNA technologies to add or remove a gene from the genome

129
Q

what is biotechnology?

A

use of living organisms to create a product or a process that helps improve the life of humans or other organisms

130
Q

Biopharming

A

production of proteins in genetically modified plants and animals

131
Q

Bi transgenic crops

A

have built in insecticide protection from insect pests

132
Q

where are bi transgenic crops found

A

in many plants including corn, cotton, tomatoes, and tobacco

Molecular Genetics exam 1 (6 decks)

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