Biochemistry Flashcards
(141 cards)
1
Q
6-MP and name its prodrug
A
azathioprine, inhibits prpp to imp
2
Q
Purines names
A
adenine, guanine
(PURE AS GOLD)
3
Q
leflunomide
A
inhibits dihydroorate dehydrogenase
(carbamoyl phosph to orotic acid)
4
Q
pyrimidines
A
(CUT PYRamid)
Cytosine, thymine, uracil
5
Q
5-fu
A
inhibit thymidylate synthase
(dUMP to dTMP)
6
Q
drugs that inhibit dhf reductase
A
methotrexate, trimethroprim, pyrimethamine
7
Q
mycophenolate, ribavirin
A
inhibit dihydrofolate reductase
(imp to gmp)
8
Q
helicase def in which ds
A
bloom synd (blm deficiency)
9
Q
irinotecan, topotecan inhibit
A
topoisomerase 1
10
Q
etoposide, teniposide inhibit
A
topoisomerase 2
11
Q
fluoroquinolones inhibit
A
top 2 and 4
12
Q
dna polym 3 has what activity
A
3 to 5 exonuclease
13
Q
dna polym 1 has which act
A
5 to 3 exonuclease
14
Q
telomerase adds which sequence
A
ttaggg (Telomerase TAGs for Greatness and Glory)
15
Q
dna ligase functn
A
links okazaki fragments
16
Q
lesch-nyan synd
A
deficiency of hgprt
17
Q
ada def leads to
A
scid
18
Q
non homologous dna repair dysfunctnl in which ds
A
ataxia telangi-ectasia
19
Q
nucleotide excision repair occurs in which phase of cell cycle
A
g1
20
Q
defective nucleotide excision repair in which ds
A
xeroderma pigmentosum
21
Q
defective mismatch repair in which ds
A
lynch synd (hereditary nonpolyposis colorectal cancer)
22
Q
homologous dna repair defective in which ds
A
breast cancer brca1 and brca2, also fanconi anemia
23
Q
missense mutatn ex
A
sickle cell ds
24
Q
frameshift mutatn ex
A
muscular dystrophy, tay-sachs ds, cystic fibrosis
25
product os rnap 1,2,3 in eukaryotes
rnap1- rRNA, rnap2- mRNA, snRNA, miRNA, rnap3- 5sRNA, tRNA
26
rnap in prokaryotes
only 1 that makes all types of RNA
27
Amanita phalloides (mushroom) poisoning
contains alpha-amanitin which inhibits rnap2, causes dysentry and hepatotoxicity
28
dactinomycin
inhibits rnap in both eukary and prokaryotes
29
rifampicins (rifabutin and rifampin)
inhibit DNA dependent RNA polymerase in prokaryotes
30
alteration in snRNP assembly
causes spinal muscular atrophy due to decreased SMN (survivalmotor neuron protein), leads to hypotonia or floppy baby syndrome
31
Anti-U1 snRNP antibodies seen in
SLE
32
start codon
AUG
33
stop codons
UGA, UAA, UAG
34
eukaryotic initiation factors (eif) functns
1. identify 5' cap
2. assemble 40s + 60s ribosomes
35
which toxins target ef-2
diptheria, pseudomonas
36
trimming
removal of N or C terminal propeptides to convert it into mature protein
eg. trypsinogen to trypsin
37
chaperone protein
maintaing the folding of proteins that is reqd for it for proper functning
38
cell cycle phases
interphase and m phase
39
interphase consists of
g1, g0, s, g2
40
m phase consists of
cytokinesis and mitosis
41
p53 mechanism
p53 activates p21 that further inhibits release of phosphate group from cyclin-cdk complex
(the phospshate displaces ef-2 from RB-Ef2 combinatn
The EF-2 causes gene transcription and the cell continues in the cell cycle from S phase)
all this is prevented by activation of p53
42
cells that permanently stay in g0 phase
neurons, cardiac muscles, skeletal muscles, rbcs
43
cells most affected by chemotherapy (never enter g0)
bone marrow, gut epithelium, skin, hair follicles, germ cells
44
RER site of synth of
1. proteins
2. n-linked oligosaccharides
45
cells rich in rer
1.mucus secreting goblet cells of SI
2. antibody secreting plasma cells
46
RER in neurons called
nissl bodies (synthesize neurotransmitter)
47
SER synthesizes
1. steroids
2. detoxificatn of drugs, poisons
48
glucose-6-phosphate locatn
SER
49
Cells rich in SER
1. Hepatocytes
2. Adrenal Cortex
3. Gonads
50
peroxisome functns
1. beta oxidatn of very long chain fa
2. alpha oxidatn of branched chain fa
3. catabolism of amino acids and ethanol
4. synth of bile acids and plasmalogens
51
what are plasmalogens
membrane phospholipids of white matter of brain
52
zellweger synd
AR disorder
Peroxisome dysgenesis due to PEX gene mutatn
hypotonia, seizures, hepatomegaly, death
53
refsum synd
ar disorder
ds of alpha oxidatn
buildup of branched chain fa (phytanic acid)
vision loss (retinitis pigmentosa), hearing loss, ataxia, peripheral neuropathy
rx- low bcfa diet, plasmapharesis
54
Adreno-leuko-pathy
x linked rec ds
ds of beta oxidatn
mutatn of ABCD1 gene
vlcfa build up in ADRENAL GLANDS and white (LEUKO) matter of brain
can lead to adrenal gland crisis, progrressive loss of neurological functn, death
55
proteasome functn
degrades proteins tagged with ubiquitin
56
ubiquitin proteasome sys defected in
some parkinsonism pts
57
golgi functn
1. distributn center for proteins and lipids from ER to vesicles and plama memb
2. add mannose-6-p to proteins for lysosomal degradatn
58
endosome functn
check material entering the cell and send it either to Golgi, sending to lysosomes for destructn or outside the cell (SORTING CENTER)
59
I-cell ds
failure of Golgis to add mannose-6-p to proteins for lysosmal degradatn
60
i cell ds defect
defect in n-acetylglucosaminyl-1-phosphotransferase
61
i cell ds features
coarse facial features
gingival hyperplasia
corneal clouding
increased plasma levels of lysosomal enzymes
often fatal in childhood
62
signal recognition particle defect
increased protein in cytosol
(as it transfers protein-ribosome complex from cytosol to RER)
63
Vesicular trafficking proteins names
COP1, COP2, Clathrin
64
COP1
cis golgi to ER (retrograde)
65
COP2
ER to cis golgi (anterograde)
66
Clathrin
trans golgi to lysosomes
plasma memb to endosomes
67
cytoskeletal elements
network of protein fibers
68
cystoskeletal elements types
microfilaments
int filaments
microtubules
69
microfilaments functn and eg
muscle contractn, phagocystosis (actin, microvilli)
70
int filaments fuctn and eg
maintain cell structure (vimentin, desmin, cytokeratin, neurofilaments)
71
microtubules functn and eg
movement, cell division
(flagella, cilia, mitotic spindle, axonal trafficking)
72
microtubule structure
alpha and beta-tubulin and bound to 1 gtp each
73
Retrograde and Anterograde transport proteins
REaDY? AttacK!
Retrograde- dynein
anterograde- kinesin
74
Retrograde transport used by what viruses and toxins
clost tetani toxin, polio virus, rabies virus, HSV
75
drugs that act on microtubules
Mictrotubules Get Constructed Very Terribly
M- Mebendazole
G- Griesofulvin
C- Colchicine
V- vinca alkaloids
T- Taxanes
76
cilia structure constituents
9 doublets + 2 singlets
77
basal body constituents
9 triplets
78
primary ciliary dyskinesia defect
dynein arm defect
79
primary ciliary dyskinesia
dysfunctnl ciliated epithelium
80
MC type of primary ciliary dyskinesia
kartagener synd
81
kartagener synd features
1. situs inversus
2. recurrent infectns (sinusitis, ear infectns, bronchiectasis)
3. inc risk of ectopic pregnancy
82
screening test for kartagener synd
dec nasal NO
83
sodium pot pump
2 strikes? K you're still in, 3 strikes? NAh, you're out.
2 K in, 3 Na out
84
drugs inhibiting Na/K pump
Oubain
Digoxin
Digitoxin
85
most abundant protein
collagen
86
collagen types
type 1- skeleton
type 2- cartilage
type 3- arteries
type 4- basement memb
(SCAB)
87
most common type of collagen
type 1
88
dec type 1 collagen productn seen in
osteogenesis imperfecta type 1
89
type 3 collagen def in
vascular type of ehlers-danlos synd
90
type 4 collagen def in
alport synd
91
autoAb against type 4 collagen in
goodpasture synd
92
collagen made up of
1/3 is of glycine + proline + lysine
93
hydroxylatn in synth of collagen req which vit
vit c
94
vit c def
scurvy
95
problems in triple helix formatn of collagen seen in
osteogenesis imperfecta
96
problems with cross linking of collagen seen in
menkes ds
97
osteogenesis imperfecta also called
brittle bone ds
98
osteogenesis imperfecta gene defects
COL1A1, COL1A2
99
osteogenesis imperfecta features
Patients can't BITE-
B- Bones- multiple fractures
I- Eye- Blue sclerae
T- Teeth- dental imperfectns
E- Ears- hearing loss
100
osteogenesis imperfecta rx
bisphosphonates
101
ehlers-danlos synd types
classical and vascular
102
classical ED synd gene defect
mutatn in type 5 collagen
(COL5A1, COL5A2)
103
vascular ED synd gene defect
mutatn in type 3 collagen
(COL3A1)
104
ED synd features
hypermobile joints
easy bruising
105
menkes ds defect
defective menkes protein (ATP7A)
106
menkes ds mech
defective collagen cross linking
107
menkes ds features
kinky hair growth, hypotonia, inc risk of cerebral aneurysms, growth retardatn
108
elastin
strechy proteins
109
elastin made up of
NONHYDROXYLATED proline, lysine, glycine
110
elastin broken down by
elastase
111
elastase inh by
alpha1-antitrypsin
112
alpha1antitrypsin def leads to
COPD
113
Marfan synd defects
FBN1 gene mutatn
on chromosome 15
defective fibrillin-1
114
marfan synd features
hypermobile joints
arachnodactyly
necrosis of aorta
aortic aneurysm (MC cause of death)
mitral valve prolapse
115
homocysteinuria cause
cystathione synthase def
116
homocysteinuria presentatn
similar to marfan's synd except
Autosomal recessive
decrease intellect
can lead to thrombosis
lens dislocatn is downward
117
pcr test functn
amplify a desired fragment of DNA
118
pcr uses
diagnostic tool for HIV
119
pcr steps
1. denaturatn
2. annealing
3. elongatn
120
polymerase used in pcr
taq polym
121
crispr functn
genome editing tool
122
crispr uses
remove virulence factors from pathogens
replacing disease causing alleles
target tumor cells
123
southern blot mech
dna cleaving
gel electrophoresis
dna on memb
dna probe added which anneals to its complementary sequence
exposed to film
124
southern blot use
identify size of dna seq
125
nothern blot uses what
rna
126
northern blot use
gene expression
127
western blot uses what
protein
128
western blot use
determine quantity
129
flow cytometry uses
assess size, granularity, protein expression of each cell
130
flow cytometry uses
examine hemat abn like
leukemia, paroxysmal nocturnal hemoglobinuria, also in immunodef like HIV
131
microarray uses
genotyping
cancer mutatn
forensic analysis
132
microarray used to detect
1. SNPs
2. CNVs
133
ELISA used to
detect presence of a specific antigen or antibody
134
ELISA used to screen for
HIV
135
Karyotyping used for
visualising chromosomes
136
samples used for karyotyping
blood, bone marrow, amniotic fluid
137
what is added in karyotyping to halt chromosome divison
colchicine is added to halt them at metaphase
138
fluorescence in situ hybridisatn
direct visualisatn of chromosomes wrt genes at molecular level
139
fluorescence in situ hyb can detect what features on chromosomes
microdeletn
translocatn
duplicatn
140
molecular cloning uses
productn of human proteins in bacteria
eg insulin, GH
141
