Quan SG exam 2 Flashcards

1
Q

the study of heredity, involves the study of cells, individuals, their offspring, and the populations within which organisms live

A

genetics

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2
Q

Constructed by mating individuals from 2 parent strains, each of which exhibits one of the 2 contrasting forms of the character under study

A

monohybrid cross

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3
Q

original parents, their offspring is are the F1/first filial generation

A

P1/parental generation

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4
Q

individuals that result from self fertilization of the F1 generation

A

F2

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5
Q

Physical appearance of a trait, over servable properties of an organism that are genetically controlled

A

phenotype

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6
Q

genotype

A

the specific allele or genetic constitution of an organism

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7
Q

genetic characters are controlled by unit factors that exist in pairs in individual organisms

A

mendels 1st postulate (unit factors in pairs)

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8
Q

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

A

mendels 2nd postulate (dominance/recessiveness)

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9
Q

During the formation of gametes, the paired unit factors separate or segregate randomly so that gametes receives one or the other with equal likelihood

A

mendels 3rd postulate (segregation)

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10
Q

Constructed by mating individuals from 2 parent strains. There are 2 pairs of contrasting forms of character under study.

A

dihybrid cross

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11
Q

a sequence of DNA bases containing biologically useful information

A

gene (unit factor)

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12
Q

specific position or location of a gene on a chromosome

A

gene locus

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13
Q

alternative form of a gene

A

allele (unlike unit factor)

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14
Q

identical alleles at a locus (pair of alleles)

A

homologue

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15
Q

different alleles at a locus (pair of alleles)

A

heterozygote

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16
Q

separates homologous chromsomes

A

first division of meiosis

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17
Q

separates sister chromatids

A

second division of meiosis

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18
Q

contains 2 sets of chromosomes

A

diploid

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19
Q

contains 1 set of chromosomes

A

haploid

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20
Q

during gamete formation, segregating pairs of unit factors assort independently of each other

A

independent assortment

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21
Q

heterozygous

A

partial dominance

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22
Q

combining the gene products from the 2 alternative alleles produces an intermediate phenotype

A

incomplete dominance

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23
Q

if 2 alleles are responsible for the production of 2 distinct and detectable products, the distinct genetic expression of both alleles in a heterozygote

A

codominance

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24
Q

The existence of 2 or more discontinuous, segregating phenotypes in a population

A

Polymorphism

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25
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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26
Q

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

A

Lethal Allele

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27
Q

The gene that determines a specific character is located on a sex chromosome

A

sex linkage

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28
Q

During meiosis, a limited number of ___ events occurs randomly between homologous chromosomes

A

crossover

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29
Q

the closer 2 loci reside along the axis of the chromosome, the less likely it is that any ____ event will occur between them

A

crossover

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30
Q

The proportion of individuals with the at-risk genotype who actually expresses the trait; complete penetrance means the trait is expressed in 100 percent of persons with that genotype

A

penetrance

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31
Q

no single stands hanging after being cut, cut right in the middle

A

blunt end

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32
Q

cut with a single strand hanging off, needs to bind with matching sequence

A

adhesive end

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33
Q

discovered in bacteria as a defense system, cuts DNA in a specific manner

A

restriction enzymes

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34
Q

1) DNA labeled at 5’ end with polynucleotide kinase and phosphate labeled ATP
2) restriction nuclease cuts DNA into 2 fragments
3) separation by gel electrophoresis
4) desired DNA

A

end labeling

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35
Q

using labeling molecule to label specific sequences and see expression in cells

A

in situ hybridization

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36
Q

how is DNA inserted into bacterial plasmid

A

A circular double stranded plasmid DNA is cleaved using a restriction nuclease, covalently attached to a human DNA fragment by a DNA ligase, then human gene will then be rapidly and easily cloned

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37
Q

example of DNA in a bacteria plasmid?

A

insulin

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38
Q

small virus infecting the bacteria causing it to grow

A

bacterial plasmid

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39
Q

Covalently joins okazaki fragments using ATP hydrolysis, forming 1 daughter strand

A

ligase

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40
Q

Human DNA fragments inserted into plasmids making recombient DNA molecules, plasmids are then introduced into bacteria

A

genomic DNA library

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41
Q

does not contain introns, only exons

A

cDNA

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42
Q

DNA cut everywhere else besides place occupied with protein, finds where DNA bound by regulatory proteins

A

DNA foot printing

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43
Q

Change one nucleotide to change the whole code, can replace one AA from a protein in order to produce a mutated protein that will take out enzyme activity
-allows us to see if one residue in an enzymatic site is really important or not

A

site directed mutagenesis

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44
Q

Use cultured stem cells with the homologous recombination, put gene of interest into a stem cell and then inject into a the mother organism (via growing embryo)

A

gene targeting

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45
Q

initiation, elongation, termination

A

3 phases of transcription

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46
Q

A DNA sequence that determines the site of transcription initiation for an RNA polymerase, it is non coding (has nothing to do with making protein)

A

promoter

47
Q

always asymmetric

A

promoter

48
Q

RNA sequence is complementary to the:

A

template strand

49
Q

RNA sequence is identical to the:

A

coding strand

50
Q

Act as initiation factors, recognize different consensus promotor sequences
-helps RNA polymerase find the correct promotor sight

A

sigma factor function

51
Q

sequences at -10 and -35 with 16-18 basepairs between them

-sigma factors recognize these promoter sequences

A

consensus sequences

52
Q

transcription termination in prokaryotes?

A

stem loop formation, causes dissociation of RNA from DNA template

53
Q

multiple open reading frames in each mRNA

A

polycistronic (prokaryotes)

54
Q

one open reading frame per mRNA

A

monocistronic (eukaryotic)

55
Q

continuos genes genes transcribed as one single mRNA

A

operon

56
Q

Bind to DNA sequences called operators, which overlap the promotor region. Bound repressors interfere with binding of RNA polymerase and transcription initiation

A

repressor

57
Q

protein that acts as a homodimer

A

repressor

58
Q

DNA component of chromatin?

A

exons, introns, regulatory sequences, junk

59
Q

nucleosomes and histone proteins (DNA wrapped around protein)

A

chromatin

60
Q

most tightly packaged form of DNA, transcriptionally silent, different from cell to cell

A

heterochromatin

61
Q

clustered as compact regions near the nucleolus and nuclear membrane

A

heterochromatin

62
Q

modification of ___ can tighten or loosen the nucleosome

A

histone tails

63
Q

3 major modifications of histone proteins?

A

acetylation, phosphorylation, methylation

64
Q

can either:

1) interact with general TF’s and Pol II binding
2) influence chromatin packing to increase or decrease accessibly of the gene

A

activators and repressors

65
Q

which polymerase transcribes mRNA?

A

RNA polymerase II

66
Q

needed to bind polymerase II to the promoter and initiate transcription

A

general transcription factor

67
Q

more ___ follow after polymerase II binds

A

transcription factos

68
Q

can work upstream, downstream, or in reverse orientation to stimulate RNA polymerase II (operate by DNA looping)

A

enhancers

69
Q
  • limit the distance that enhancers operate
  • DNA sequences that bind specialized proteins
  • buffer the gene from outside events
A

insulator

70
Q
  • prevent the control reach from acting outside the domain

- prevent spread of heterochromatin

A

insulator

71
Q

7’ methyl guanylate cap added to 5’ end of pre-mRA while elongation is still in process

  • 5’ to 5’ linkage
  • methylation of 2’ C
A

5’ capping

72
Q

using poly A polymerase, long chain of adenine nucleotides added to mRNA molecule during RNA processing to increase the stability of the molecule

A

Poly A tail (3-polyadenylation)

73
Q

1) cleavage at the 5’ splice site
2) formation of lariat like intermediate
3) cleavage at the 3’ splice site
4) ligation of exons

A

splicing of introns

74
Q

divides into cell 1 (activator) and 2 (repressor) mRNA, tissue specific

A

alternative splicing

75
Q

forms the spliceosome and lariat intron

A

splicing

76
Q

altered metabolism, altered gene expression, altered cell shape or movement

A

functions of intracellular signaling

77
Q

hydrophilic signal molecule binding to surface receptor, don’t pass into the cell

A

cell surface receptors

78
Q

carrier protein with small hydrophobic signal molecule passing into the cell to intracellular receptor in nucleus

A

intracellular receptors

79
Q

ligand fixed on cell membrane as well as receptor, cells have to be in contact to communicate

A

contact dependent intercellular signaling

80
Q

important for inflammation, ex macrophages call cytokines to help fight battle

A

paracrine intercellular signaling

81
Q

long pathways, give precise commands to body

A

synaptic intercellular signaling

82
Q

2 cells linked via small gap in membrane (ex cardiac muscles, must contract together)

A

gap signaling

83
Q

can one signaling molecule perform multiple functions?

A

YES

84
Q

start codon?

A

AUG (Met)

85
Q

Met start and stop codon on ends, ___ in the middle

A

open reading frame

86
Q

last position of codon is less specific, allowed for a wide range of pairing

A

wobble base pairing

87
Q

3’ end is linking with the amino acid

A

aminoacyl tRNA

88
Q

2 subunits, 1 small and 1 large

A

ribosome

89
Q

Ribsome subunits?

A

A: aminoacyl-tRNA
P: peptidtyl-tRNA
E: exit

90
Q

1) incoming amino-acyl tRNA to the A site
2) moves into the P site, kicking out tRNA previously occupying to the E (exit) site
3) A site open for another amino-acyl tRNA to move in and repeat process to build amino acid

A

steps in ribosome subunit aa building

91
Q

brings in release factor and stops assembly of mRNA chain

A

stop codon

92
Q

stop codons?

A

UAG, UAA, UGA

93
Q

carry the misfolded proteins and refold correctly

A

chaperone proteins

94
Q

importance of protein folding?

A

misfolded proteins execute wrong functions and can result in death/disease

95
Q

get rid of proteins that are wrongly coded or folded, such proteins dragged through center to be trashed

A

proteosomes

96
Q

designed to mark what is wrong with a miscoded protein

A

ubiquitin

97
Q

receptor is also a channel in the cell membrane, when a ligand binds the channel either opens or shuts

A

ion channel-linked receptor

ionotropic receptor

98
Q

Nicotinic Acetylcholine Receptor; in neuromuscular jxn, ligand binding opens channel and ions flow in, triggering AP to contract muscle

A

ionotropic receptor

99
Q

G protein linked receptor

A

metatropic receptor

100
Q

ligand binds G protein therefore activating it, then activating the adjacent enzyme or ion channel

A

G protein-linked receptor

101
Q

signaling ligand assembles active protein complex

-ex) muscarinic acetylcholine, beta-adrenergic receptor

A

G protein-linked receptor

102
Q

G protein stimulating adenylate cyclase, regulate Ca++ channels

A

alpha-s (GS)

103
Q

G protein inhibiting adenylate cyclase, regulating K+ channels and Ca++ channels

A

alpha-i (GI)

104
Q

G protein activating PLC

A

alpha-q (GQ)

105
Q
  • GS binds adenylate cyclase (AC-membrane bound enzyme) that triggers conversion of ATP to cAMP (second messenger)
  • cAMP binds to PKA, releasing free catalytic subunit which is then able to phosphorylate
A

cyclic AMP cascade (after binding of NE)

106
Q

Regulatory subunit and catalytic subunit dissociate when it is activated by cAMP, acts to phosphorylate proteins

A

PKA

107
Q

dephosphorylate, counter act PKA

A

phosphatase’s

108
Q

G protein is activated with binding of vasopressin to membrane receptor, G protein binds to phospholipase C (PLC) to give activated complex cleaving PIP2 to :

A

IP3 and DAG

109
Q

triggers release of intracellular calcium in ER or muscle (ex in saliva)

A

IP3

110
Q

triggers, in conjunction with Ca, the activation of protein kinase C (PKC)

  • CI flows out
  • Na and H20 follow
A

DAG

111
Q

activated catalytic domain upon ligand binding

A

enzyme linked receptors

112
Q

tyrosine kinase domains come together and autophosphorylate

A

receptor dimerization

113
Q

mutated smaller G protein coupled with a kinase receptor

A

RAS

114
Q
  • cell proliferation
  • membrane bound
  • GTP dependent switches
  • activate MAP kinases
A

RAS