Quan Exam 2 Flashcards

1
Q

genetics is the study of ____; it involves the study of ___, individuals, their offspring, and the ____ within which organisms live.

A

heredity; cells; populations

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2
Q

geneticists investigate all forms of ____ and the nature of the underlying ____ of such characteristics

A

inherited variation; genetic basis

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3
Q

a ____ is constructed by mating individuals from two parent strains, each of which exhibits one of the two contrasting forms of the character under study

A

monohybrid cross

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4
Q

the physical appearance of a trait is called the ____ of the individual; the ____ properties of an organism that are genetically controlled

A

phenotype; observable

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5
Q

the specific allele or genetic constitution of an organism

A

genotype

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6
Q

individuals that result from the self fertilization of the F1 generation are called the ____

A

F2 generation (by an F1 cross)

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7
Q

mendel’s postulates

A
  1. principles of paired factors - unit factors in pairs
  2. Principle of dominance- dominance/recessiveness
  3. law of segregation (purity of gametes); mendel’s first law of inheritance
  4. law of independent assortment (Mendel’s second law of inheritance)
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8
Q

genetic characters are controlled by _____ that exist in pairs in individual organisms

A

unit factors

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9
Q

when two unlike unit factors responsible for a single character are present in a single individual, one unit factor is said to be ____ to the other, which is said to be ____

A

dominant; recessive

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10
Q

during the formation of gametes, the paired unit factors ____ or ____ randomly so that each gamete receives one or the other with equal liklihood

A

separate; segregate

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11
Q

during gamete formation, segregating pairs of unit factors ____ ____ of each other

A

assort independently

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12
Q

a diagram used to predict an outcome of a particular cross or breeding experiment

A

punnett square

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13
Q

punnett squares used by biologists to determine the probability of an offspring to have a particular ____

A

genotype

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14
Q

a ____ is constructed by mating individuals from two parent strains; there are 2 pairs of contrasting forms of character under study

A

dihybid cross

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15
Q

a sequence of DNA bases containing biologically useful information (unit factor)

A

gene

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16
Q

specific location or position of a gene on a chromosome

A

gene locus

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17
Q

alternative form of a gene (unlike unit factor)

A

allele

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18
Q

chromosome pairs of approx. the same length, centromere positioning, and staining pattern

A

homologues

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19
Q

homologues are for genes with the same corresponding gene ____

A

loci

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20
Q

the first division in meiosis separates ____

A

homologous chromosomes

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21
Q

the second division in meiosis separates _____

A

sister chromatids

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22
Q

haploid (1n) is the result of ____ and has one set of chromosomes aka gametes

A

meiosis

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23
Q

combining the gene products from the two alternative alleles produces an intermediate phenotype

A

incomplete or partial dominance

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24
Q

in a heterozygous gene, both alleles are dominant and expressed without blending

A

co-dominance

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25
Q

the existence of two or more discontinuous, segregating phenotypes in a population

A

polymorphism

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26
Q

the phenomenon of masking or modifying the effects of one gene pair by the expression of another gene pair

A

epistasis

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27
Q

expression, or the lack of expression of certain genes can affect the survival of an organism

A

lethal allele

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28
Q

the gene that determines a specific character is located on a sex chromosome; genes on sex chromosomes will NOT distribute evenly

A

sex linkage

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29
Q

during meiosis, a limited number of ____ events occur randomly between homologous chromosomes

A

crossover

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30
Q

the closer two loci reside along the axis of the chromosome, the ____ likely it is that any crossover event will occur between them

A

less

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31
Q

the ____ of a genetic disorder is the proportion of individuals with the at-risk genotype who actually express the trait

A

penetrance

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32
Q

trait is expressed in 100% of persons with that genotype

A

complete penetrance

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33
Q

an enzyme that cuts DNA at or near specific recognition nucleotide sequences known as restriction sites

A

restriction enzymes

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34
Q

in a ____ molecule, both strands terminate in a base pair

A

blunt-ended

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35
Q

____ or ____ ends are created by various overhangs (a stretch of unpaired nucleotides in the end of a DNA molecule)

A

adhesive; sticky

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36
Q

a rapid and sensitive method for radioactively, or non-isotropically, labeling DNA fragments, and is useful for visualizing small amounts of DNA

A

end-labeling

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37
Q

a type of hybridization that uses labeled complimentary DNA, RNA, or modified nucleic acid strands (i.e. probe) to localize a specific DNA or RNA sequence in a portion or section of a tissue

A

in situ hybridization

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38
Q

circular bacterial DNA

A

plasmid

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39
Q

the enzyme that has ligating ability of nucleotides

A

ligase

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40
Q

a collection of the total genomic DNA from a single organism

A

genomic DNA library

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41
Q

in a genomic DNA library, the DNA is stored in a population of identical ____, each containing a different ____ of DNA

A

vectors; insert

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42
Q

cDNA is ____ DNA that is synthesized from a ____ template in a reaction catalyzed by the enzyme _____

A

double-stranded; single-stranded RNA; reverse transcriptase

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43
Q

a method of investigating the sequence of specificity of DNA binding proteins in vitro

A

DNA foot printing

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44
Q

DNA foot printing can be used to study ____ interactions both outside and within cells

A

protein-DNA

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45
Q

a molecular biology method that is used to make specific and intentional changes to the DNA sequence of a gene and any gene products

A

site-directed mutagenesis

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46
Q

a genetic technique that uses homologous recombination to change an endogenous gene; also a replacement strategy based on homologous recombination

A

gene targeting

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47
Q

gene targeting can be used to ____ a gene, remove ____, ___ a gene, and introduce ____

A

delete; exons; add; point mutation

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48
Q

3 phases of transcription

A

initiation, elongation, and termination

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49
Q

a region of DNA that initiates transcription

A

promoter

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50
Q

the template strand of DNA has the ____ on the DNA strand

A

anticodons

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51
Q

the coding strand of DNA is the ____ that has the ____ used in translation

A

mRNA; codons

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52
Q

the sigma factor enables specific binding of ____ to ____ and is needed for ____

A

RNA polymerase; gene promoters; RNA synthesis

53
Q

the calculated order of most frequent resides, either nucleotide or amino acid, found at each position in a sequence alignment

A

consensus regions in a promoter

54
Q

two types of transcription termination in prokaryotes

A
  1. rho dependent

2. rho independent

55
Q

rho-dependent termination is controlled by the rho protein, which tracks along behind the ____ on the growing ____ chain

A

polymerase; mRNA

56
Q

near the end of the gene, the polymerase encounters a run of ____ on the _____ and it stalls; as a result, the rho protein collides with the polymerase; the interaction with rho releases the ____ from the ____ bubble

A

G nucleotides; DNA template

mRNA; transcription

57
Q

rho-independent termination is controlled by specific sequences in the ____

A

DNA template strand

58
Q

as the polymerase nears the end of the gene being transcribed, it encounters a region rich in ____ nucleotides. The mRNA folds back on itself and the complementary ____ nucleotides bind together

A

C-G

59
Q

the result is a stable ___ that causes the polymerase to stall as soon as it begins to transcribe a region rich in ___ nucleotides; the complementary ____ region of the mRNA transcript only forms a weak interaction with the template DNA

A

hairpin; A-T; U-A

60
Q

this, coupled with the stalled polymerase, induces enough instability for the ____ to break away and liberate the new ____

A

core enzyme; mRNA transcript

61
Q

mRNA transcription that has genetic information in it that will create many proteins

A

polycistronic transcription

62
Q

mRNA transcription that contains only the genetic information for 1 protein

A

monocistronic transcription

63
Q

what does an operon consist of?

A

three adjacent structural genes, a promoter, a terminator, and an operator

64
Q

a substance that acts on an operon to inhibit mRNA synthesis

A

repressor

65
Q

a segment of DNA to which a transcription factor binds to regulate gene expression

A

operator

66
Q

the lac operon is regulated by several factors including the availability of ____ and ____

A

glucose; lactose

67
Q

lac operon can be activated by _____

A

allolactose

68
Q

lactose binds to the ____ of lac operon and prevents it from repressing ____

A

repressor protein; gene transcription

69
Q

components of chromatin

A

protein, RNA, and DNA

70
Q

the most tightly packed DNA, it is transcriptionally silent, and differs from cell to cell

A

heterochromatin

71
Q

de-condensed DNA that is transcriptionally active

A

euchromatin

72
Q

____ is chromatin that is decondensed and can be ____; ____ is condensed and cannot be ____

A

euchromatin is decondensed and can be transcribed

heterochromatin is condensed and cannot be transcribed

73
Q

which polymerase transcribes mRNA?

A

polymerase 2

74
Q

there are ___ general transcription factors that bind to all genes and there are _____ that will only bind to certain genes

A

5; gene-specific transcription factors

75
Q

_____ are needed to bind pol 2 to the promoter

A

general transcription factors

76
Q

_____ is the first transcription factor to bind to DNA

A

TBP (transcription binding protein)

77
Q

location of enhancers

A

upstream, downstream, or in reverse orientation (last one is not natural and must be engineered)

78
Q

____ limit the distance that enhancers operate; these proteins ___ the gene from outside effects

A

insulators; buffer

79
Q

insulators prevent the ___ region from acting outside the ____ and prevent the spread of _____

A

control; domain; heterochromatin

80
Q

an independently folded protein domain that contains at least one structural motif that recognizes double- or single-stranded DNA

A

DNA binding domain

81
Q

DNA binding domains include ____ and _____

A

zinc finger proteins; leucine-zipper proteins

82
Q

3 types of RNA processing

A
  1. 5’ capping
  2. addition of the poly A tail (3’ polyadenylation)
  3. splicing of introns (RNA splicing)
83
Q

polyadenylation involves lots of ____ added at the ___ end

A

adenosines; 3’

84
Q

splicing of an RNA molecule:

A
  • cleavage at the 5’ splice site
  • formation of a lariat like intermediate
  • cleavage at the 3’ splice site
  • exons are ligated
85
Q

how cells communicate with eachother

A

intercellular signaling

86
Q

signaling within a cell

A

intracellular signaling

87
Q

an extracellular signaling molecule binds to a ____ which activates ____ that can interact with ____

A

receptor protein; intracellular signaling proteins; target proteins

88
Q

target proteins can have an effect on ____, alter ____, and alter ____ or _____

A

cell metabolism; gene expression; cell shape; movement

89
Q

location of receptors

A

cell surface receptors and intracellular receptors

90
Q

different types of intercellular signaling

A

contact dependent, paracrine, synaptic, and endocrine

91
Q

can one signaling molecule perform multiple functions?

A

yes

92
Q

signaling through cascade of intermediate signaling complexes happens through a series of ____ reactions which are initiated by a ____ or ____ acting on a receptor

A

chemical; stimulus; first messenger

93
Q

signaling is transduced to the cell interior through ____ (which ____ the initial signal) and ultimately to _____, resulting in a cell response to the initial stimulus

A

second messengers; amplify; effector molecules

94
Q

_____ and ____ have extracellular ligand binding domains and cytoplasmic catalytic domains

A

intrinsic tyrosine kinase receptors; intrinsic serine kinase receptors

95
Q

ion channel-linked receptors; there are 5

A

ionotropic receptors

96
Q

____ are very important in muscle contraction

A

nicotinic acetylcholine receptors (nAChRs)

97
Q

2 types of metabotropic receptors

A

muscarinic acetylcholine receptors and beta-adrenergic receptors

98
Q

receptor inactivation

A
  • receptor sequestration
  • receptor down regulation
  • receptor inactivation
  • production of inhibitory protein
99
Q

types of G protein coupled receptors:

A

Alpha S, Alpha I, and Alpha Q

100
Q

alpha S stimulates ____

A

adenylyl cyclase

101
Q

Alpha I inhibits ____

A

adenylyl cyclase

102
Q

Alpha Q activates ____

A

phospholipase C (PLC)

103
Q

in dissociation of G protein subunits, the ____ will deactivate from the ____when activated/phosphorylated and can then interact with whatever next molecule in a sequence

A

alpha unit; beta gamma unit

104
Q

____ dissociates when activated by ____, a small molecule that plays a key role in the regulation of intracellular signal transduction

A

protein kinase A; cAMP

105
Q

cAMP is derived from ____ by the catalytic action of a signaling enzyme ____

A

ATP; adenylyl cyclase

106
Q

protein kinase A phosphorylates something and ____ removes a phosphate

A

protein phosphatase-1

107
Q

cAMP transduces its effects on ____ interconversion by regulating a key signaling enzyme, _____

A

glycogen-glucose-1-phosphate; protein kinase A (PKA)

108
Q

PKA phosphorylates target proteins on ____ and ____ residues

A

serine; threonine

109
Q

a calcium channel that stimulates intracellular calcium mobilization

A

IP3

110
Q

activates protein kinase C

A

DAG

111
Q

____ is an activating cofactor for PKC; in the absence of ___, PKC activity will be repressed

A

Ca++

112
Q

enzyme-linked receptors:

A
  • insulin
  • insulin-like growth factors (IGFs)
  • nerve growth factor (NGF)
  • brain derived neurotrophic factor (BDNF)
  • epidermal growth factor (EGF)
  • platelet derived growth factor (PDGF)
113
Q

enzyme-linked receptors do not use ____ and are specifically used in ____

A

G-proteins; cell growth

114
Q

receptor dimerization: in _____, a signal molecule will interact and cause _____

A

receptor tyrosine kinase (RTK); autophosphorylation

115
Q

in receptor dimerization, the two domains in the ____ will come together, inducing ____ of the other domain

A

receptor tyrosine kinase (RTK); phosphorylation (autophosphorylation)

116
Q

Ras are small ____ involved in ____

A

G-proteins; cell proliferation

117
Q

Ras are ____, they have ___ dependent switches, and they activate ____

A

membrane bound; GTP; MAP kinases

118
Q

the phosphorylation cascade results in a change in ____ or ____

A

gene expression; protein activity

119
Q

____ use the NF-kB signaling pathway; this pathway starts with a ____ and eventually NF-kB translocates to the ____

A

cytokines; TNF-alpha (tumor necrosis factor); nucleus

120
Q

in the nucleus, NF-kB binds with a ____, then the cell can transcribe _____

A

coactivator; target NF-kB genes

121
Q

start codon

A

AUG / methionine; signals the start of protein synthesis

122
Q

this will be dictated by the start codon, and each successive triplet will be read in register until a stop codon is reached

A

reading frame

123
Q

transfer RNA is a ____ shaped structure with the codon on the “middle leaf” that will signal a ____

A

cloverleaf; amino acid

124
Q

amino-acyl tRNA is an enzyme that catalyzes the formation of an ____ bond, linking the ____ of the adenosine nucleotide of the tRNA to the ____ group of the amino acid (A site inside the ribosome)

A

ester; 3’ hydroxyl group; carboxyl

125
Q

stop codons

A

UAA, UAG, UGA

signal the end of protein synthesis and do not specify an amino acid

126
Q

____ are used to facilitate protein folding

A

molecular chaperones

127
Q

cellular machinery for protein turnover; a multicatalytic complex designed for degradation of cytosolic proteins

A

proteasome

128
Q

targets proteins to the proteasome for degradation

A

ubiquitin