Quan SG exam 2 Flashcards
(114 cards)
1
Q
the study of heredity, involves the study of cells, individuals, their offspring, and the populations within which organisms live
A
genetics
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
3
Q
original parents, their offspring is are the F1/first filial generation
A
P1/parental generation
4
Q
individuals that result from self fertilization of the F1 generation
A
F2
5
Q
Physical appearance of a trait, over servable properties of an organism that are genetically controlled
A
phenotype
6
Q
genotype
A
the specific allele or genetic constitution of an organism
7
Q
genetic characters are controlled by unit factors that exist in pairs in individual organisms
A
mendels 1st postulate (unit factors in pairs)
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)
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)
10
Q
Constructed by mating individuals from 2 parent strains. There are 2 pairs of contrasting forms of character under study.
A
dihybrid cross
11
Q
a sequence of DNA bases containing biologically useful information
A
gene (unit factor)
12
Q
specific position or location of a gene on a chromosome
A
gene locus
13
Q
alternative form of a gene
A
allele (unlike unit factor)
14
Q
identical alleles at a locus (pair of alleles)
A
homologue
15
Q
different alleles at a locus (pair of alleles)
A
heterozygote
16
Q
separates homologous chromsomes
A
first division of meiosis
17
Q
separates sister chromatids
A
second division of meiosis
18
Q
contains 2 sets of chromosomes
A
diploid
19
Q
contains 1 set of chromosomes
A
haploid
20
Q
during gamete formation, segregating pairs of unit factors assort independently of each other
A
independent assortment
21
Q
heterozygous
A
partial dominance
22
Q
combining the gene products from the 2 alternative alleles produces an intermediate phenotype
A
incomplete dominance
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
24
Q
The existence of 2 or more discontinuous, segregating phenotypes in a population
A
Polymorphism
25
The phenomenon of masking or modifying the effects of one gene pair by the expression of another gene pair
Epistasis
26
Expression, or lack there of expression, of certain genes that can affect the survival of an organism
Lethal Allele
27
The gene that determines a specific character is located on a sex chromosome
sex linkage
28
During meiosis, a limited number of ___ events occurs randomly between homologous chromosomes
crossover
29
the closer 2 loci reside along the axis of the chromosome, the less likely it is that any ____ event will occur between them
crossover
30
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
penetrance
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no single stands hanging after being cut, cut right in the middle
blunt end
32
cut with a single strand hanging off, needs to bind with matching sequence
adhesive end
33
discovered in bacteria as a defense system, cuts DNA in a specific manner
restriction enzymes
34
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
end labeling
35
using labeling molecule to label specific sequences and see expression in cells
in situ hybridization
36
how is DNA inserted into bacterial plasmid
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
37
example of DNA in a bacteria plasmid?
insulin
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small virus infecting the bacteria causing it to grow
bacterial plasmid
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Covalently joins okazaki fragments using ATP hydrolysis, forming 1 daughter strand
ligase
40
Human DNA fragments inserted into plasmids making recombient DNA molecules, plasmids are then introduced into bacteria
genomic DNA library
41
does not contain introns, only exons
cDNA
42
DNA cut everywhere else besides place occupied with protein, finds where DNA bound by regulatory proteins
DNA foot printing
43
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
site directed mutagenesis
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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)
gene targeting
45
initiation, elongation, termination
3 phases of transcription
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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)
promoter
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always asymmetric
promoter
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RNA sequence is complementary to the:
template strand
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RNA sequence is identical to the:
coding strand
50
Act as initiation factors, recognize different consensus promotor sequences
-helps RNA polymerase find the correct promotor sight
sigma factor function
51
sequences at -10 and -35 with 16-18 basepairs between them
| -sigma factors recognize these promoter sequences
consensus sequences
52
transcription termination in prokaryotes?
stem loop formation, causes dissociation of RNA from DNA template
53
multiple open reading frames in each mRNA
polycistronic (prokaryotes)
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one open reading frame per mRNA
monocistronic (eukaryotic)
55
continuos genes genes transcribed as one single mRNA
operon
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Bind to DNA sequences called operators, which overlap the promotor region. Bound repressors interfere with binding of RNA polymerase and transcription initiation
repressor
57
protein that acts as a homodimer
repressor
58
DNA component of chromatin?
exons, introns, regulatory sequences, junk
59
nucleosomes and histone proteins (DNA wrapped around protein)
chromatin
60
most tightly packaged form of DNA, transcriptionally silent, different from cell to cell
heterochromatin
61
clustered as compact regions near the nucleolus and nuclear membrane
heterochromatin
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modification of ___ can tighten or loosen the nucleosome
histone tails
63
3 major modifications of histone proteins?
acetylation, phosphorylation, methylation
64
can either:
1) interact with general TF's and Pol II binding
2) influence chromatin packing to increase or decrease accessibly of the gene
activators and repressors
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which polymerase transcribes mRNA?
RNA polymerase II
66
needed to bind polymerase II to the promoter and initiate transcription
general transcription factor
67
more ___ follow after polymerase II binds
transcription factos
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can work upstream, downstream, or in reverse orientation to stimulate RNA polymerase II (operate by DNA looping)
enhancers
69
- limit the distance that enhancers operate
- DNA sequences that bind specialized proteins
- buffer the gene from outside events
insulator
70
- prevent the control reach from acting outside the domain
| - prevent spread of heterochromatin
insulator
71
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
5' capping
72
using poly A polymerase, long chain of adenine nucleotides added to mRNA molecule during RNA processing to increase the stability of the molecule
Poly A tail (3-polyadenylation)
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1) cleavage at the 5' splice site
2) formation of lariat like intermediate
3) cleavage at the 3' splice site
4) ligation of exons
splicing of introns
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divides into cell 1 (activator) and 2 (repressor) mRNA, tissue specific
alternative splicing
75
forms the spliceosome and lariat intron
splicing
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altered metabolism, altered gene expression, altered cell shape or movement
functions of intracellular signaling
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hydrophilic signal molecule binding to surface receptor, don't pass into the cell
cell surface receptors
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carrier protein with small hydrophobic signal molecule passing into the cell to intracellular receptor in nucleus
intracellular receptors
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ligand fixed on cell membrane as well as receptor, cells have to be in contact to communicate
contact dependent intercellular signaling
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important for inflammation, ex macrophages call cytokines to help fight battle
paracrine intercellular signaling
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long pathways, give precise commands to body
synaptic intercellular signaling
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2 cells linked via small gap in membrane (ex cardiac muscles, must contract together)
gap signaling
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can one signaling molecule perform multiple functions?
YES
84
start codon?
AUG (Met)
85
Met start and stop codon on ends, ___ in the middle
open reading frame
86
last position of codon is less specific, allowed for a wide range of pairing
wobble base pairing
87
3' end is linking with the amino acid
aminoacyl tRNA
88
2 subunits, 1 small and 1 large
ribosome
89
Ribsome subunits?
A: aminoacyl-tRNA
P: peptidtyl-tRNA
E: exit
90
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
steps in ribosome subunit aa building
91
brings in release factor and stops assembly of mRNA chain
stop codon
92
stop codons?
UAG, UAA, UGA
93
carry the misfolded proteins and refold correctly
chaperone proteins
94
importance of protein folding?
misfolded proteins execute wrong functions and can result in death/disease
95
get rid of proteins that are wrongly coded or folded, such proteins dragged through center to be trashed
proteosomes
96
designed to mark what is wrong with a miscoded protein
ubiquitin
97
receptor is also a channel in the cell membrane, when a ligand binds the channel either opens or shuts
ion channel-linked receptor
| ionotropic receptor
98
Nicotinic Acetylcholine Receptor; in neuromuscular jxn, ligand binding opens channel and ions flow in, triggering AP to contract muscle
ionotropic receptor
99
G protein linked receptor
metatropic receptor
100
ligand binds G protein therefore activating it, then activating the adjacent enzyme or ion channel
G protein-linked receptor
101
signaling ligand assembles active protein complex
| -ex) muscarinic acetylcholine, beta-adrenergic receptor
G protein-linked receptor
102
G protein stimulating adenylate cyclase, regulate Ca++ channels
alpha-s (GS)
103
G protein inhibiting adenylate cyclase, regulating K+ channels and Ca++ channels
alpha-i (GI)
104
G protein activating PLC
alpha-q (GQ)
105
- 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
cyclic AMP cascade (after binding of NE)
106
Regulatory subunit and catalytic subunit dissociate when it is activated by cAMP, acts to phosphorylate proteins
PKA
107
dephosphorylate, counter act PKA
phosphatase's
108
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 :
IP3 and DAG
109
triggers release of intracellular calcium in ER or muscle (ex in saliva)
IP3
110
triggers, in conjunction with Ca, the activation of protein kinase C (PKC)
- CI flows out
- Na and H20 follow
DAG
111
activated catalytic domain upon ligand binding
enzyme linked receptors
112
tyrosine kinase domains come together and autophosphorylate
receptor dimerization
113
mutated smaller G protein coupled with a kinase receptor
RAS
114
- cell proliferation
- membrane bound
- GTP dependent switches
- activate MAP kinases
RAS
