Biochem Random Flashcards
(301 cards)
1
Q
histone amino acids
A
lysine and arginine
2
Q
linker histone
A
H1
3
Q
heterochromatin
A
highly condensed
increase methylation
decrease acetylation
4
Q
methylation
A
cystine and adenine
5
Q
methylation at CpG islands
A
represses transcription
6
Q
histone modification
A
methylation mute
acetylation active
7
Q
linkage phosphate in nucleotide
A
3-5’ phosphodiester bond
8
Q
methyl in base
A
thymine
9
Q
deamination of cytosine
A
makes uracil
10
Q
deamination of adenine
A
makes guanine
11
Q
methylation of uracil
A
makes thymine
12
Q
amino acids for purine synthesis
A
glycine
aspartate
glutamine
13
Q
inhibits dihydroorotate dehydrogenase
A
leflunomide
14
Q
inhibits ribonucleotide reductase
A
hydroxyurea
15
Q
adenosine deaminase deficiency
A
required for degradation of adenosine and deoxyadenosine
increase dATP toxicity to lymphocytes
16
Q
treatment Lesch-Nyhan
A
allopurinol or febuxostat
17
Q
Wobble exceptions
A
methionine and tryptophan
only encoded by 1 codon
18
Q
exception of universal genetic cod
A
mitochondria
19
Q
AT rich sequences
A
found in promoters and origins of replication
20
Q
-poside inhibits
A
topo II
21
Q
-tecan inhibits
A
topo I
22
Q
FQN inhibits
A
topo II and topo IV
23
Q
degrades RNA primer
replaces with DNA
A
DNA polymerase I
24
Q
transition mutation
A
purine to purine or pyrimidine to pyrimidine
25
transversion mutation
purine to pyrimidine or pyrimidine to purine
26
early stop
nonsense
| UAG, UAA, UGA
27
examples of frameshift mutation
Duchenne and Tay Sachs
28
examples of mutation in splice site
cancers, dementia, epilepsy, beta thalassemia
29
low glucose
increase AC leading to activation of CAP and increased transcription
30
high lactose
unbinds repressor leading to increase transcription
31
defective nucleotide excision repair
xeroderma pigmentosum
32
steps base excision repair
glycosylase removes base and creates AP site
endonuclease cleaves 5'
lyase cleaves 3' end
polymerase followed by ligase
33
defective mismatch repair
Lynch syndrome
| occurs in G2
34
defective nonhomologous end joining
ataxia telangiectasia, BRCA1 mutation, Fanconi anemia
35
start codon eukaryotes vs prokaryotes
methionine to n-formylmethionine
36
promoter region
AT rich upstream with TATA and CAAT boxes
| mutation leads to decrease in transcription
37
signs of intron
start with GT
| end with AG
38
most numerous RNA
rRNA
39
alpha amanitin
inhibits RNAP II
| causes hepatotoxicity
40
initial transcript
heterogeneous nuclear RNA
41
polyadenlation signal
AAUAAA
42
quality control mRNA
cytoplasmic procesing bodies (P bodies)
| contain exonucleases, decapping enzymes and microRNAs
43
antibodies to snRNPs
SLE
44
anti-U1 RNP
mixed connective tissue
45
microRNA
small, conserved, noncoding RNA molecules
| target 3' UTR
46
T arm tRNA
ribothymidine, pseudouridine, cytidine
47
D arm tRNA
dihydrouridine residues
| detects tRNA by aminoacyl-tRNA synthetase
48
initiation protein synthesis
GTP hydrolysis
49
tumor suppressors
p53 induces p21
inhibits CDKs
hypophosphorylation of Rb inhibits G1 to S progression
50
permanent cells
neurons, skeletal and cardiac muscle, RBCs
51
stable
hepatocytes and lymphocytes
52
RER
secretory proteins and N-liknked oligosaccharide addition
53
RER in neurons
Nissle bodies
54
free ribosomes
cytosolic and organellar proteins
55
cells rich in RER
mucus goblet cells and plasma cells
56
smooth ER
steroid synthesis and detox of drugs and poisons
57
n-oligosaccharides
asparagine
58
o-oligosaccharides
serine and threonine
59
defect in n-acetylglucosaminyl-1-phosphotransferase
I cell disease
| cells secreted extracellularly rather than delivered to lysosomes
60
absent signal recognition particle
protein accumulates in cytosol
61
cop II vs cop I
two forward
| one back
62
peroxisome
very long chain fatty acids, branched fatty acids, amino acids, and ethanol catabolism
63
hypotonia, seizures, hepatomegaly
Zellweger syndrome
64
scaly skin, ataxia, cataracts, shortening of 4th toe, epiphyseal dysplasia
Refsum disease
65
defects proteasome
Parkinson disease
66
actin, microvilli
microfilaments
67
vimentin, desmin, cytokeratin, lamins, glial fibrillary acid proteins, neurofilaments
intermediate filaments
68
cilia, flagella, spindle, centrioles
microtubules
69
desmin
muscle
70
GFAP
neuroglia
71
dynein vs kinesin
dynein retrograde
| kinesin anterograde
72
9 doublet and 2 singlet arrangement
cliaa
| of MT
73
basal body
9 MT triplets with no central MT
74
female with Kartagener
increase risk of ectopic pregnancy
75
sodium potassium
3 Na out
| 2 K in
76
oubain
inhibits bining to K site
77
type I collagen
bone, skin, tendon, dentin, fascia, cornea, late wound repair
78
type II collagen
cartilage, vitreous body, nucleus pulposus
79
type III
reticulin-skin, blood vessels, uterus, fetal tissue, granulation tissue
seen in Ehlers-Danlos
80
type IV
basement membrane, basal lamina, lens
81
hydroxylation collagen
proline and lysine
82
problems forming triple helix collagen
osteogenesis imperfecta
83
problems with cleavage of disulfide rich terminal regions procollagen
Ehlers-Danlos
84
problems with cross-linking collagen
Ehlers-Danlos and Menkes disease
| covalent lysine-hydroxylysine cross linking by copper containing lysyl oxidase
85
genetics osteogenesis imperfecta
COL1A1 and COL1A2
86
translucent connective tissue over choroidal veins
blue sclera in OI
87
aneurysms Ehlers Danlos
berry and aortic aneuysms
88
classical Ehlers-Danlos
mutation in type V collagen
89
genetics Menkes disease
X linked recessive impaired copper absorption and transport
ATP7A
brittle, kinky hair, growth retardation and hypotonia
90
composition elastin
rich in nonhydroxylated proline, glycine, and lysine residues
91
crosslinking elastin
extracellular
92
wrinkles of aging
decrease collagen and elastin production
93
genetics Marfan syndrome
FBN1 on ch 15
| AD
94
lens in marfan
upward and temporally displaced
95
southwestern blot
DNA binding proteins
like transcription factors
using labeled oligonucleotide probes
96
microarrays
detect single nucleotide polymorphisms and copy number variations
97
less specific than Western blot
ELISA
98
phase karyotyping
metaphase
99
samples for karyotyping
blood, bone marrow, amniotic fluid, or placental tissue
100
steps cloning
isolate
expose to RT to produce cDNA
insert cDNA into plasmids with ABX resistance
101
cre-lox system
manipulate genes at specific developmental points
102
RNAi
dsRNA complementary to mRNA sequence
103
pleiotropy
multiple phenotypic effects
104
dominant negative mutation
heterozygote produces nonfunctional altered protein that also prevents normal product
105
somatic mosaicism
mitotic errors after fertilization
106
gonadal mosaicism
only in egg or sperm
| suspect if parents do not have disease
107
mosaicism survivable
McCune Albright
108
different muations at same locus
beta thalassemia
| allelic heterogeneity
109
mutation at different loci produce similar phenotype
albinism
| locus heterogeneity
110
heteroplasmy
mitochondrial-normal and mutated leading to variable expression
111
heterodisomy
heterozygous indicates meiosis I error
112
isodisomy
meiosis II error or postzygotic chromosomal duplication
113
individual with recessive when only one parent is carrier
uniparental disomy
114
HW assumptions
no mutation
natural selection not occurring
random mating
no net migration
115
Prader Willi
maternal imprint
| paternal mutated
116
Angelman
paternal imprint
| maternal mutated
117
genetics hypophosphatemic rickets
X linked dominant
| same genetics as fragile X and Alport syndrome
118
genetics CF
AR on ch7
| Phe508 deletion
119
pathophysiology CF
ATP-gated Cl channel retained in RER leading to increase intracellular Cl and increase Na reabsorption
120
increase immunoreactive trypsinogen
newborn screening CF
121
infection CF infancy vs adolescence
Staph aureus early
| pseudomonas adolescence
122
infertility CF
absence of vas deferns
123
slows progression CF
ibuprofen
124
lyonization
female carriers variably affected depending on pattern of X inactivation
125
start weakness Duchenne
proximal
126
role dystrophin
anchor muscle fibers
| connects intracellular cytoskeleton to transmembrane proteins alpha and beta dystroglycan
127
labs dystrophin
increase CK and aldolase
128
genetics myotonic type 1 dystrophy
CTG repeat in DMPK
| AD
129
myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia
myotonic type 1 dystrophy
130
genetics fragile X
CGG on FMR1
X linked
leads to hypermethylation
131
macroorchidism, long face with large jaw, large everted ears, autism, mitral valve prolapse
fragile x syndrome
132
CAG repeat
huntington
133
GAA repeat
Friedreich ataxia
134
most common unbalanced Robertsonian translocation Downs
14 and 21
135
labs first trimester downs
increase nuchal transleucency and hypoplastic nasal bone
decrease PAPP-A
increase free beta hCG
136
second trimester labs
decrease alpha FP, increase beta hCG, decrease estriol, increase inhibin A
137
prominent occiput, rocker-bottom feet, intellecutal disability, non-disjunction, clenched fists, low set ears, small jaw, congenital heart disease
Edwards 18
138
labs edwards
decrease everything
139
severe intellectual disability, rocker bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, cutis aplasia, congenital heart sidease
patau
| decrease everything in labs
140
ch 3
VHL, RCC
141
ch 4
ADPKD (2), achondroplasia, Huntington
142
ch 5
cri-du-chat syndrome, FAP
143
ch 6
hemochromatosis
144
ch 7
Williams syndrome, CF
145
ch 9
Friederich ataxia
146
ch 11
Wilms tumor, beta globulin defects (SCD, beta thal, men1)
147
ch 13
Patau, Wilson, Rb, BRCA2
148
ch15
Prader-Willi, Angelman, Marfan
149
ch16
ADPKD1, alpha globin defects
150
ch17
NF1, BRCA1, p53
151
ch18
Edwards
152
ch21
Down
153
ch22
NF2, DiGeorge
154
Robertsonian translocation
long arms of 2 acrocentric chromosomes fuse at centromere and 2 short arms are lose
unblaanced-miscarriage, stillbirth, and chromosomal imbalance
155
cardiac cri-du-chat
VSD
156
elfin facies, hypercalcemia, extreme friendliness
Williams syndrome
157
night blindness, dry skin, corneal degeneration, Bitot spots on conjunctiva
vitamin A def
158
acute vitamin A tox
N/V, vertigo, blurred vision
159
pseudotumor cerebri tox
vitamin A
160
teratogenic vitamin A
cleft palate, cardiac abnormalities
161
thiamine (B1)
pyruvate dehydrogenase
alpha ketoglutarate dehydrogenase
transketolase
branched-chain ketoacid dehydrogenase
162
diagnosis B1 def
increase RBC transketolase after B1 administration
163
B2 (riboflavin)
succinate dehydrogenase
164
B2 def
corneal vascularization and cheilosis
165
derivation niacin
from tryptophan
| synthesis requires B2 and B6
166
severe b3 def
in Harnup disease, malignant carcinoid syndrome and isoniazid
167
pellagra symptoms
diarrhea, dementia, dermatitis
168
treatment hartnup
high-protein diet and nicotinic acid
169
b5 (pantothenic acid) def
dermatitis, enteritis, alopecia, adrenal insufficiency
170
function B6
transamination, decarboxylation, glycogen phosphorylation
171
b6 synthesis for
cystathonine, heme, niacine, histamine, NT (serotonin, epi, NE, dopa, GABA)
172
b6 def
convulsions, peripheral neuropathy, sideroblastic anemia
173
inhibition b7
avidin (from eggs)
| used in carboxylase reactions
174
absorption folate
jejunum
175
labs folate def
increase homocysteine and normal methylmalonic acid
176
causes of folate def drugs
phenytoin, sulfonamides, methotrexate
177
cofactor methionine synthase and methylmalongyl-CoA mutase
b12
178
labs b12 def
increase homocysteine and methylmalonic acid
179
cofactor dopamine to NE
dopamine beta hydroxylase requires vitamin C
180
excess vitamin C
risk of iron toxicity
| calcium oxalate nephrolithiasis
181
ergocalciferol
from plants D2
182
excess vitamin D in granulomatous disease
increase activation vitamin D by epithelioid macrophages
183
high dose vitamin E
alter vitamin K
| enhanced effects of warfarin
184
vitamin E def
hemolytic anemia, acanthocytosis, muscle weakness, posterior column and spinocerebellar tract demyelination
looks like b12 def but without megaloblastic anemia
185
def predispose alcholic cirrhosis
zinc
186
kwashiorkor
protein malnutrition due to decrease plasma oncotic pressure, liver malfunction
187
marasmus
deficient in caloriesbut no nutrients entireley absent
| muscle wasting
188
fomepizale
inhibits alcohol dehydrogenase
| antidote for methanol or ethylene glycol
189
disulfuram
inhibits acetaldehyde dehydrogenase
190
kinetics alcohol dehydrogenase
zero order kinetics
191
ethanol metabolism
increase NADH/NAD ratio
leads to lactic acidosis, fasting hypoglycemia, hepatosteatosis
favors acetyl-CoA for ketogenesis
192
occurs in both mitochondria and cytoplasm
heme synthesis
urea cycle
gluconeogenesis
193
occurs in cytoplasm
glycolysis, HMP shunt, steroids, proteins, FA, cholesterol, and nucleotides
194
carboxylase
requires biotin
195
regulators of PFK1
+ AMP, F26BP
| -ATP citrate
196
regulators F16BP
+ citrate
| -AMP, F26BP
197
regulators isocitrate dehydrogenase
+ ADP
| -ATP NADH
198
regulators glycogen synthase
+G6P, insulin, cortisol
| -epi, glucagon
199
regulators G6PD
+ NADP
| - NADPH
200
regulators CPS II
+ ATP, PRPP
| -UTP
201
regulators CPS I
n-acetylglutamate +
202
acetyl CoA carboxylase
+ insulin +citrate
| -glucagon, palmitoyl CoA
203
carnitine acyltransferase I
-malonyl CoA
204
HMG-CoA reductase
+insulin, thyroxine
| -glucaagon, cholesterol
205
glycerol3phosphate
30 net ATP in muscle
206
arsenic glycolysis
produce zero net ATP
207
uses NADPH
anabolic processes
respiratory burst
cytochrome p450
glutathione reductase
208
glucokinase
in liver and beta cells of pancreas
induced by insulin
has higher Km (lower affinity)
not inhibited by G6P
209
fasting F26BP
increase PKA due to glucagon
| increase FBPase 2 more gluconeogenesis
210
pyruvate dehydrogenase complex
```
thiamine pyrophosphate B1
lipoic acid
CoA B5
FAD b2
NAD b3
```
211
arsenic
inhibits lipoic acid
| leads to vomiting, rice-water stools, garlic breath, QT prolongation
212
findings pyruvate dehydrogenase complex def
neuro defects, lactic acidosis, increase alanine
213
treatment pyruvate dehydrogenase def
intake ketogenic nutrients
| lysine and leucine
214
NADH enter mitohondria for ETC
malate-aspartate or glycerol 3 phosphate shuttle
| FADH straight tocomplex II
215
rotenone
inhibits complex I
216
antimycin A
inhibits complex 3
217
CO/CN
inhibits complex 4
218
oligomycin
inhibits ATP synthase
219
uncoupling agents
2,4 dinitrophenol, aspirin, thermogenin in brown fat
220
even vs odd FA
odd makes 1 propionyl CoA
| even cannot produce glucose due to only yielding acetyl CoA equivalents
221
sites HMP shunt
lactatin mammary glands, liver, adrenal cortex, RBCs
222
Heinz bodies
denatured hemoglobin within RBCs due to oxidative stress
223
defect fructokinase
essential fructosuria
| fructose in blood and urine
224
deficiency aldolase B
fructose intolerance
decrease phosphate which inhibits glycogenolysis and gluconeogenesis
reducing sugar in urine
decrease fructose and glucose as treatment
225
galactokinase deficiency
cataracts
| failure to track objects and develop social smile
226
absence glalactose1phosphate uridyltransferase
accumulation galactitol in lens of eye
failure to thrive
exclude galactose and lactose from diet as treatment
227
sorbitol to fructose
sorbitol dehydrogenase
228
glucose to sorbitol
aldose reductase
229
cells with only aldose reductase
retina, kidneys, Schwann cells
230
lactase
make glucose and galactose
231
stool lactase deficiency
decrease pH and breath increase hydrogen content
232
AA in proteins
L amino acids
233
essential AA
methioneine, histidien, leucine, lysine, isoleucine, phenylalanine, threonine, tryptophan
234
AA required during periods of growth
Arg and His
235
results hyperammonemia
depletes alpha ketoglutarate leading to inhibition TCA
236
benzoate, phenylacetate and phenylbutyrate MOA in hyperammonemia
react with glycine or glutamine
| products renally excreted
237
increase orotic acid
decrease BUN
hyperammonemia
no megaloblastic anemia
ornithine transcarbamylase deficiency
238
products phenylalanine
```
tyrosine (thyroxine)
dopa (melanin)
dopamine
NE
epi
```
239
products tryptophan
niacin
| serotonin (melatonin)
240
products glycine
prophyrin
| heme
241
products arginine
creatine
urea
NO
242
defect homogentisate oxidase
alkaptonuria
243
defect phenylalanine hydroxylase
PKU
244
defect tyrosinase
melanin
245
PKU
decrease phenylalanine hydroxylase or TH4 cofactors
246
phenyl ketones
phenylacetate, phenyllactate, phenylpyruvate
247
treatment PKU
decrease phenylalanine and increase tyrosine
248
maple syrup disease
blocked degradation of branched AA (isoleucine, leucine, valine) due to decrease branched chain alpha ketoacid dehydrogenase
249
treatment maple syrup disease
restrictio of isoleucine, leucine, valine in diet
| thiamine supplementation
250
deficieny of homogentisate oxidase
alkaptonuria
| homogentisic acid accumulates
251
cystathionine synthase def
decrease methionine, increase cysteine and B6, B12 and folate in diet
252
methionine synthatse def
increase methionine in diet
253
findings homoxystinuria
```
increase homocysteine in urine
osteoporosis
marfanoid habitus
ocular changes (down and in)
cardio (stroke and MI)
kyphosis and intellectual disability
```
254
cystinuria
defect in COLA reabsorption
| leads to stones (urinary alk as treatment)
255
diagnostic test cystinuria
cyanide-nitroprusside test
256
limit dextrin
1-4 residues remaining on a branch after glycogen phosphorylase has shortened it
257
incrased glycogen in liver, increased blood lactate, increase triglycerides, increase uric acid and hepatomegaly
Von Gierke
| defect in G6P
258
treatment von Gierke
frequent oral glucose or cornstarch
| avoid fructose and galactose
259
cardiomegaly, hypotonia, exercise intolerance
Pompe
| lysosomal alpha 1-4 glucosidase
260
limid dextrin like in cytosol
| normal lactate levels
debranching enzyme alpha 1,6
| Cori disease
261
increase glycogen in muscle
| cramps and myoglobinuria and arrhythmia
myophosphorylase
| McArdle disease
262
second wind phenomenon
due to increase muscular blood flow
| found in McArdle disease
263
cherry red spot without hepatosplenomegaly
Tay Sach
deficient hexosaminidase A
GM2 ganglioside builds up
264
Fabry disease
episodic peripheral neuropathy, angiokeratomas, hyphohidrosis
later-renal failure, cardiovascualr disease
265
defect Fabry
alpha galactosidase A
| ceramide trihexoside builds up
266
defect metachromatic leukodystrophy
arylsulfatase A
| cerebroside sulfate builds up
267
peripheral neuropathy, developmetnal delay, optic atrophy, globoid cells
Krabbe due to defect in galactocerebrosidase
| buildup of galactocerebroside and psychosine
268
pancytopenia, osteoporosis, avascular necrosis, bone crisis and lipid laden macrophages
Gauche due to defect in glucocerebrosidase
269
hepatosplenomegaly, foam cells, cherry red macula
NPC from defect in sphingomyelinase
270
corneal clouding and hepatosplenomegaly
Hurler du to alpha L iduronidase def
271
hunter
no corneal clouding and has aggressive behavior
| iduronate sulfatase def
272
increased in Ashkenazi Jews
NPC, Tay Sachs, Gaucher
273
X linke lysosomal
hunter and Fabry
274
required for FA synthesis
citrate to transport from mitochondria to cytosol
| in liver, lactating mammary glands and adipose
275
required for FA degradation
carnitine
276
systemic primary carnitine def
weakness, hypotonia, hypoketotic hypoglycemia
| defect in transport of LCFAs
277
accumulation fatty acyl carnitines in blood
medium chain acyl CoA dehydrogenase def
| avoid fasting
278
depleted oxaloacetate
in starvation and DKA
| leads to buildup of acetyl CoA which shunts glucose and FFA toward ketones
279
urine test ketones
acetoacetate
280
source of energy for brain after 3 days of starvation
ketones
281
pancreatic lipase
degrade dietary triglycerides
282
lipoprotein lipase
degrades TG in chylomicrons and VLDL
| found on vascular endothelial surface
283
hepatic TG lipase
degrades TG remaining in IDL
284
LCAT
esterification of 2/3 plasma cholesterol
285
cholesterol ester transfer protein
mediates transfer of cholesterol esters to other lipoprotein particles
286
activates LCAT
A1
287
lipoprotein lipase cofactor that catalyzes cleavage
C-II
288
mediates chylomicron secretion into lymphatics
B-48
289
binds LDL R
B-100
290
alcohol increase synthesis
HDL
291
abetalipoproteinemia
```
absent chylomicrons, VLDL, LDL
def apoB
```
292
findings abetalipoproteinemia
retinitis pigmentosa, spinocerebellar degeneration due to bitamin E deficiency, ataxia, acanthocytosis
293
treatment abeta
restrict long chain FA
| large dose vitamin E
294
hyperchylomicronemia
defect in CII or lipoprotein lipase
295
findings hyperchylomicronemia
pancratitis, hepatosplenomegaly, xanthomas
| creamy layer in supernatant
296
familial hypercholestrolemia
defective LDL receptors
297
findings familial hypercholestrolemia
accelerated atehrosclerosis, tendon xanthomas and corneal arcus
298
dysbetalipoproteinemia
defective ApoE
299
findings dysbetalipoproteinemia
preamture atherosclerosis
| xanthoma striatum palmare
300
hypertriglyceridemia
overproduction of VLDL
301
findings hypertriglyceridemia
hyhpertriglyceridemia
| can cause pancreatitis
