Biochemistry Flashcards
1
Q
Ribonucleotide reductase drug
A
Hydroxy urea (HURR)
2
Q
ADA def
A
SCID
3
Q
Drug for lesch nyhan
A
Allopurinol, febuxostat
4
Q
Lesch nyhan enz
A
HGPRT
5
Q
Thymidylate synthase drug
A
5FU (FUTS)
6
Q
Frame shift mutation eg
A
Duchene MD
7
Q
Missense mutation eg
A
Sickle CA (aa changed)
8
Q
eg of NHEJ abnormality
A
ataxia telengectasia, fanconi anemia
9
Q
what dimer UV cause
A
thymine
10
Q
RNA polymerase inhibitor drugs
A
rifampicin, actinomycin D(both pro and eu)
11
Q
chloramphenicol MOA
A
inhibit peptidyl transferase (A to P site)
12
Q
Streptomycin
A
bind to 30s, inhibit formation of initiation complex
13
Q
collage structure
A
glycine, X Y
14
Q
vitamin C in collagen
A
hydroxylation of proline and lysine
15
Q
osteogenesis imperfecta mech
A
problem forming collagen triple helix (Type 1)
16
Q
south western blot
A
DNA binding proteins
17
Q
pleotropy
A
one gene corresponds to multiple defects
18
Q
locus heterogeneity
A
mutations in different loci same disease (albinism)
19
Q
allelic heterogeneity
A
different mutations in the same locus, same phenotype (thalassemia)
20
Q
heteroplasmy
A
both normal and mutated mtDNA results in variable expression
21
Q
AD and AR
A
structural genes and enzymes
22
Q
X linked dominant eg
A
hypophosphatemic rickets
23
Q
ragged red fibers
A
mitochondrial myopathy
24
Q
B/L acoustic schwannoma
A
NF type 2
25
absent vas deferens
CF
26
CF voltage
more negative transepithelial potential difference
27
Rx of CF
N-acetyl cysteine (cleaves disulphide bonds in mucous glycoproteins)
28
death in duchenne
DCM
29
duchenne mech
truncated dystrophin
30
fragile X syndrome mech
CGGn, hypermethylation of cytosine base -> inactivation of FMR1 gene
31
CF of fragile X syndrome
eXtra large testes, jaws and ears, Mitral valve prolapse
32
quad screen
for down synd, beta HCG and inhibin A increased
| aFP and estriol decreased
33
CF gene which chromosome
7
34
22 q11 deletion syndromes
diGeorge (thymic, parathyroid, and cardiac) and velocardiofacial (palate, facial and cardiac)
35
CI of isotretinoin
pregnancy
36
what is B3
niacin
37
B3 derived from
tryptophan
38
vitamin used to treat dyslipidemia
Niacin
39
NAD derived from which vitamin
B3, niacin
40
B5
pantothenic acid
41
B5 for
pantothenic acid for CoA
42
B6
pyridoxine
43
B6 for (very important vitamin)
transamination
| Synthesis of cystathionine heme, niacin, histmine, and neurotransmitters like sertonin, E, NE, dopamine & GABA
44
B7
biotin
45
B7 for
biotin for carboxylation (adding C)
46
B9
folate
47
B12
cobalamin
48
two enzymes with B12
Homocysteine methyl transferase, Methyl malonyl CoA mutase (isomerase)
49
Maple syrup urine disease def
alpha keto acid dehydrogenase (need thiamine)
50
regulator of carbamoyl synthetase I
N acetyl glutamate
51
von Gierke def
glucose 6 phosphatase (increased uric acid)
52
DNA topoisomerase function
create break in the helix to add or remove supercoils
53
Fluroquinolones MOA
inhibit Topoisomerase II (DNA gyrase)
| topoisomerase IV
54
LAC operon which binds to which
CAP to promoter
| repressor to operator
55
nucleotide excision repair disease
xeroderma pigmentosum (UV -> thymine dimer)
56
stop codons
UGA
UAA
UAG
57
boxes of promoter
TATA (-25)
| CAAT (-70)
58
enhancer and silencer positions
anywhere
59
First transcript is called
hnRNA (heterogenous nuclear)
60
signal for poly A tail
AAUAAA
61
Anti-smith antibodies what and seen in
to snRNP
| SLE
62
Kozak consensus sequence
on eukaryotic mRNA (initiation of translation)
| Associated with thalassemia intermedia beta globin
63
what inhibit G1 to S progression
p53 and Rb (tumor suppressor genes)
64
peroxisome: metabolism of what
VLCFA
| branched chain FA
65
micro vs. intermediate filament fn.
micro (actin, movement)
| intermediate (maintain cell structure)
66
6 steps in collagen synthesis
pre-pro alpha chain,
Hydroxylation (pro-alpha chain)-scurvy
Glycosylation (pro-collagen)-O. imperfecta, S=S
Exocytosis
Proteolytic processing (tropocollagen) remove S=S
Cross linking to collagen fibrils(EhlerD, Menke)
67
hereditary hemorrhagic telengectasia aka
Hosler Heber Tendu syndrome
68
Li Fraumeni syndrome
SBLA cancer syndrome
| sarcoma, breast, leukemia adrenals
69
3 things about von Hippel Lindau disease
chromosome 3
| 1) cerebellar hemangioblastoma, 2) renal cell ca and 3) pheochromocytoma
70
4 trinucleotide expantion disease
Fragile X syndrome
Friedreich ataxia
Huntington disease
Myotonic dystrophy
71
ATP of B1
alpha-ketoglutarate dehydrogenase
transketolase
Pyruvate dehydrogenase
72
vitamin D and sun
7-dehydro cholesterol becomes cholecalciferol
73
HUG
heme, urea and gluconeogenesis
74
dehydrogenase enzyme for
redox reactions
75
glucose sensor of beta cell
glucokinase
76
4 fates of pyruvate
alanine (ALT)
oxaloacetate (PC)
acetyl coA (PDH)
lactate (LDH)
77
oxaloacetate to PEP: enz
PEP carboxy kinase
78
aldolase B equivalent of galactose
G1P uridyl transferase
79
fn. of aldose reductase
galactose to galactitol
| glucose to sorbitol
80
glucogenic EAA
He Met Vali
81
secondary protein structure formed by
hydrogen bond
82
basic AA
arginine, lysine and histidine
83
most common def in urea cycle
ornithine transcarbamylase
84
alpha ketogllutarate receives NH3 from alaine and becomes
glutamate (in liver)
85
sequence of events from phenyl alanine
```
phenyl alanine
tyrosine (thyroxine and homogentisic acid)
DOPA (melanin)
dopamine
NE
E
metanephrine
VMA
```
86
which enz for NE to E
PNMT
87
homocyteine can become
methionine
| Cystathione then cyteine
88
von Gierkes disease
type I
| G6Pase
89
pompe remember
lysosome (alpha 1,4)
heart (HCM)
tongue
90
cori remember
corum
| alpha 1,6
91
fabry first
Alpha galactosidase A
fabrics and ceramics (ceramide TriheXoside accumulate)
X for XR
92
Krabbe is a galactose version of
```
Gaucher
Krab vision (optic atrophy)
```
93
Hurler also starts with
alpha
| alpha L iduronidase
94
last glycogen storage disease also starts with ...
| Also what is the connect between hunter
Aryl sulfatase A
| Connection is sulfatase (hunter: iduronate sulfatase)
95
Enz of beta oxidation
Acyl CoA dehydrogenase
96
Exercise fuel use
stored ATP
creatine phosphate
anaerobic
97
two cells that cannot use ketone bodies
RBC (lack mitochondria)
| hepatocyte (lack thiophorase)
98
apolipoprotein B48 for
chylomicron
99
apolipoprotein CII for
lipoprotein lipase
| For two things (chylomicron and VLDL)
100
apolipoprotein E for
chylomicron and VLDL uptake
101
apolipoprotein B100 for
LDL receptor in extrahepatic tissue
102
apolipoprotein A-I for
LCAT
103
hyperchylomicronemia due to
defect in lipoprotein lipase or C-II
104
hypertriglyceridemia due to
overproduction of hepatic VLDL
105
Chylomicron contains
TG (become FFA) ad cholesterol (in the remnant)
106
hyperlipoproteinmia defect in
apo E3 and E4
107
MI in 8 year old
homocystinuria
108
loss of milestones
Nieman Pick
109
tryptophan can gives rise to
niacin
| serotonin (5HT) and then melatonin
110
p062. Linker histone
H1
111
p062. heterochromatin code
highly condensed
112
p062. DNA/histone methylation and acetylation
methylation mute and acetylation active
113
p063.nucleoTides are connected by …bonds
3' 5' bonds (three for Tide)
114
p064.self mutilation
lesh nyhan sydrome (HGPRT def)
115
p065.topoisomerase fn
SSB/DSB to add or remove supercoils (gyrase is topo-II)
116
p065.primase fn
Make RNA primers
117
p065. RNA primer degraded by
poly I (first is special)
118
p065. telomerase is a
RNA dependent DNA polymerase
119
p065. proof reading activity is
3' 5' exonuclease
120
p067. No Tax for DamN Pig
NHEJ/ataxia T and Damaged bases/Nucleotide repair/X. pigmentosa
121
p067. altered bases need an
alkootam starting with glycosylase
122
p068. TATA to…and CAAT for…
25 and 70
123
p068. Three RNA poly inhibitors
alpha amanitidine, rifampicin, actinomycin D
124
p069. eg. Abnormal splicing disease
beta thal
125
p069. Kozak vs. shine dalgarno
eukaryotic vs prokaryotic (seen in mRNA for translation)
126
p070. 4 arms of tRNA
D detection, T touching, CCA (covalently carry AA), anti-codon
127
p071.ribosomal subunits for pro and eu
eu: 40+60=80; pro 30+50=70
128
p071.chloramphenicol MOA
inhibit peptidyl transferase (A to P site)
129
p072.smooth ER fn
steroid syn and detoxification
130
p073. I cel disease what decreased
Mannose 6 phosphate on lysosomal enzymes (goes outside instead)
131
p073. marker of peroxisome disease
VLC FA
132
p074. vimentin
CT
133
p074. neurofilament
neuron
134
p074.microtubule drugs
mebenda, griseo, colchi, vin.vin, pacli
135
p075. alport syndrom what defect
defective coll IV basement membrane
136
p076. 3rd step in SynDro GlyXo ProSS and what bond
triple helix: disulphide bonds
137
p077. menke disease
decreased copper absorption (ATP7A)
138
p080. allelic heterogeneity ex
beta thal
139
p080. mosaicism ex
McCune albright (U/L café au, bone and endocrine (early puberty)
140
p081. prader willi
paternal deltion (maternal imprinting): hyperphagia, hypotonia
141
p082. hypophosphatemic rickets inheritance
XD (phosphate wasting in PCT)
142
p083. recurrent epistaxis
HHT (osler weber rendu)
143
p083. SBLA syndrome
p53 mutation
144
p083. disease of 3
Von Hippel Lindau (cerebellar hemangioblastoa, RCC, Phaeochro) Chro 3
145
p084. 2 findings in CF newborn
Meconium ileus, increased immunoreactive trypsinogen
146
p085. Duchene vs. Becker
frame shift deletion vs non-frameshift insertion
147
p085. frontal balding
myotonic dystrophy
148
p085. fragile X versus huntingon
Hypermethylation vs. hypoacetylation
149
p086. Bin up
beta HCG ad Inhibin up in down (estrol and AFP down)
150
p086. Edward syndrom E for
Ellathum down and E like fingers (note:polydactyly in patau)
151
p087. 3 microdeletions
5 (cri-du chat), 7 (willams friendly), 22q11
152
p089. Wernicke K triad
confusion, ataxia and opthalmoplegia
153
p090. niacin made from
tryptophan (need B2 and B6)
154
p090. B5 is a component of
CoA
155
p090. B6 important for
transaminationSynthesis of cystathionine heme, niacin, histmine, and neurotransmitters like sertonin, E, NE, dopamine & GABA
156
p091. B7 for
carboxyltion (biotin; add one Carbon)
157
p091. Valproi acid and FA ineraction
reduced absorption
158
p092. B12 enzymes
Homocysteine methyl transferase, Methyl malonyl CoA mutase (isomerase)
159
p093. cork scew hair and perifolliculr hge
C
160
p093. milk or sun gives
cholecalciferol (from 7 dehydro cholesterol)
161
p093. two vitamin def neuropathy
B12 and E
162
p094. zinc def
acrodermatitis enteropathica
163
p095. summarize metabolic stuff in alcoholism
increased ketone, lactin acid, fat and decreased glucose
164
p096. kinase enzyme opposite and similar
phosphorylase (similar), phosphatase (opposite)
165
p096. RLS of FA synthesis
Acetyl CoA carboxylase
166
p096. RLS of gluconeogenesis
Frucsose 1-6 biphosphatase
167
p098. muscle TCA cycle ATP
30 (glycerol phosphate shuttle)
168
GluPaL is MODY
glucokinse in Pancreas and liver (associated with MODY)
169
p100. PC is OX
pyruvate carboxylase makes oxaloacetate
170
p100. TCA cycle code
Citrate Is Krebs Starting Substrate For Making Oxaloactate
171
p101. cyanide MOA
ETC inhibiotor
172
p101. oligomycin MOA
inihbit ATP synthase
173
p101. thermogenin MOA
uncoupling agent
174
p102. G6PD inheritance
XR
175
p102. Heinz bodies seen in
G6PD (denatured Hb)
176
p103. Name frucose disease
essential fructosuria
| fructose intolerance
177
p103. Galactose diseases
```
Gaactkokinse def
classic galactosemia (Mental R, E coli sepsis, Liver)
```
178
p103. Hexose to "ol" by
aldose reductase
179
p103. Aldose B equivalent of galactose
uridyl transerase
180
p104. fn of sorbitol dehydrogenase
sorbitol to fructose (not in retina, schwann, kidney)
181
p104. Basic AA
HAL (HA for growth)
| LA for histone
182
p105. code for urea cycle
Ordinaritly Careless Crappers Are Also Frivalous Abotu Urinvation
183
p105. NH3+ aKG
glutamate
184
p107. DOPA to melanin enzyme
tyrosinase
185
p108. homocytine vs cystine (CF)
MI/marfan vs. COLA
186
p108. cyanide nitropurssudde test
cystinuria (done in urine)
187
p109. two enzymes in glycogen meta
glycogen synthase and phosphorylase
188
p109. branching enzyme
branch 6 letters (alpha 1,6 glucosidase)
189
p112. beta oxidation enzyme
acyl coA dehydrogenase
190
p113. two organs can't use ketones
liver and RBC
191
p115. recurrent pancreattis
```
increased TG (hyperchylomicronemia)
also in hyperTG
```
192
Succinate dehydrogenase 2 fm
ETC II
| Succinate to fumarate
