biochem/ genetic Flashcards
(292 cards)
1
Q
What is the most common intracellular buffer?
A
Protein
2
Q
What is the most common extracellular buffer?
A
Bicarbonate
3
Q
What is a Zwitterion?
A
A molecule with one negative and
one positive end
4
Q
What is the Isoelectric Point?
A
The pH at which there is no net charge
5
Q
What is the rate limiting
enzyme in Glycolysis?
A
PFK-1
6
Q
What is the rate limiting
enzyme in Gluconeogenesis?
A
Pyruvate carboxylase
7
Q
What is the rate limiting enzyme in the HMP shunt?
A
G-6PD
8
Q
What is the rate limiting enzyme in Glycogenesis?
A
Glycogen synthase
9
Q
What is the rate-limiting enzyme in Glycogenolysis?
A
Glycogen phosphorylase
10
Q
What is the rate limiting enzyme in FA synthesis?
A
AcCoA carboxylase
11
Q
What is the rate limiting enzyme in β- oxidation?
Adrenaluekodystrophy
A
CAT-1
12
Q
What is the rate limiting enzyme in Cholesterol synthesis?
(Redox reaction)
A
HMG CoA reductase
13
Q
What is the rate limiting enzyme in Ketogenesis?
A
HMG CoA synthase
14
Q
HMG CoA reductase
A
rate limiting enzyme in Cholesterol synthesis?
15
Q
What is the rate limiting enzyme in Purine synthesis?
A
PRPP synthase
16
Q
Asp transcarbamoylase pathway?
A
rate limiting enzyme in Pyrimidine synthesis?
17
Q
rate limiting enzyme in TCA cycle?
A
Isocitrate dehydrogenase
18
Q
What is the rate limiting enzyme in Urea cycle?
A
CPS-I
Carbamoyl phosphate synthetase I
19
Q
90% of Autosomal recessive disorder are?
A
Enzyme deficiency
20
Q
AD diseases are mostly: enzyme or structural
A
Structural protein
21
Q
What is the rate limiting enzyme in Heme synthesis? -ALA synthase
A
delta-ALA synthase
22
Q
the catabolic pathways that create energy
A
“ABC”
AcetylCoA production
beta-oxidation
Citric acid cycle
23
Q
What are the anabolic pathways that store energy?
A
“EFGH” :
ER,
Fatty acid synthesis,
Glycolysis,
HMP shunt
24
Q
What are the anabolic + catabolic pathways
A
“HUG”
Heme synthesis
Urea cycle
Gluconeogenesis
25
What does a Kinase do?
Phosphorylates using ATP
26
What does a Phosphorylase do?
Phosphorylates using Pi
27
What does a Carboxylase do?
Forms C-C bonds (w/ ATP and biotin) using CO
28
What does a Synthase do?
Consumes 2 substrates equally
29
What does a Synthetase do?
Consumes 2 substrates, uses ATP
30
What is Zero-order kinetics?
Metabolism independent of concentration
| constant amount
31
What is 1st-order kinetics
Constant drug percentage metabolism over time, depends on drug
32
Km =
0.5 Vmax
=1/affinity
=1/potency
33
What affects Potency?
Km
34
What effects Efficacy?
Vmax
35
What is Efficacy?
Max effect regardless of dose (lower w/ non-competitive antagonist)
36
What is EC50
Concentration of drug that produces 50% of maximal response
37
What is Competitive Inhibition?
Fights for active site, no change in Vmax, potency decreases
38
What is Non-competitive Inhibition?
Binds a regulatory site, no change in Km, efficacy decreases, decreases Vmax
39
What is an Endothermic Reaction?
Consumes heat
40
What is an Exothermic Reaction?
Gives off heat
41
What is the Peak level?
4 hrs after dose (too high => decrease dose)
42
What is the Trough level?
2 hrs before dose (too high => give less often)
43
What is t1/2?
Half-life, the time it takes for the body to use half of the drug ingested
44
What is von Gierke?
Glucose-6-phosphatase deficiency => hypoglycemia, hepatosplenomegaly
| can't get glucose out the cell, hi lipid, muscle breakdown
45
What is Pompe's?
a-1,4-glucosidase deficiency => DIE early
lysosomal
| cardio| debranching enzyme
46
What is Cori's?
Debranching enzyme deficiency => short branches of glycogen
47
What is Anderson's?
Branching enzyme deficiency => long chains of glycogen
48
What is McArdle's
Muscle phosphorylase deficiency => muscle cramps w/ exercis
49
What is Essential Fructosuria?
Fructokinase deficiency => excrete fructose (still have hexokinase
50
What is Fructosemia?
"Fructose intolerance"
(Aldolase B deficiency ) => liver damage
| severe
51
What does a Galactokinase deficiency cause?
Cataracts
52
What does Galactosemia cause?
Cataracts, mental retardation, liver damage
| Galactose-1-phosphate uridyltransferase
53
What does the Citrate shuttle do?
FA transport out of the mitochondria
54
What does the Carnitine shuttle do
FA transport into the mitochondria
55
What lysosomal diseases have a cherry- red macula
Tay-Sachs, Neimann-Pick
56
What lysosomal diseases have a Gargoyle-face?
Gaucher's, Hurler's
57
Hexosaminidase A deficiency => blindness, incoordination, dementia
What is Tay-Sachs?
58
Hexosaminidase A/B deficiency
sandhoff's
59
Glucocerebrosidase deficiency => wrinkled tissue MP, bone pain
| sphingolipid found in cell membranes
Gaucher
| β-glucocerebrosidase → accumulation of glucocerebroside
60
# description
Gaucher cell:
| macrphages
lipid-rich macrophages with an enlarged cytoplasm with inclusions
61
Neimann-Pick?
| enzyme
Sphingomyelinase deficiency => zebra bodies
| myelinoid memb -> parallel palisading lamellae in lysosomal cytoplasm
62
# neimann-pick
lipid-laden macrophages
| light microscope
foam cells
63
6 actions of TCA
1. SNRI: Block reuptake of catecholamines, increasing the level: hypertension
2. strongly anticholinergic: no sweating, hot, dry skin, and hyperthermia
3. Block alpha-1 receptor drop BP
4. Blocks Na in ventricle
5. Blocks AV conduction: slow
6. Antihistaminic
64
a-galactosidase deficiency => corneal clouding, attacks baby's kidneys, X- linked
What is Fabry's?
X-linked
65
X-linked Recessive Enzyme
G6pd
F
H
CGD
HGRPT
CAT-1
AD
OTC
PRPP synthetase
Tyrosine Kinase
66
What is Krabbe's?
b-galactosidase deficiency => globoid bodies
67
What is Metachromatic Leukodystrophy?
Arylsulfatase deficiency => childhood MS
68
# Mucopolysaccharidoses
What is Hunter's?
| enzyme
Iduronidase deficiency, milder form
69
What is Lesch-Nyhan?
(HGPRT deficiency) => gout, neuropathy, self-mutilation
70
# Mucopolysaccharidoses
What is Hurler's?
| enzyme:
Iduronidase deficiency, worse form
71
What do white diaper crystals suggest?
Excess orotic acid
72
What does biotin donate CO2 groups for?
Carboxylation
73
What does THF donate methyl groups for?
Nucleotides
74
What does SAM donate methyl groups for?
All other reactions
75
What is the difference b/w Heterochromatin and Euchromatin?
Heterochromatin = tightly coiled Euchromatin = loose (10nm fibers)
76
What are the Purines?
A, G
77
What are the Pyrimidines?
CUT
78
What is a silent mutation?
Changes leave the same amino acid:
wabble positon
79
What is a point mutation?
Changes 1 base
80
What is a transition?
Changes 1 purine to another purine or pyrimidine to pyrimidine
81
What is a transversion?
Changes 1 purine to a pyrimidine or vice versa
82
What is a frameshift mutation
Insert or delete 1-2 bases
83
What is a missense mutation?
Mistaken amino acid substitution
84
What is a nonsense mutation?
Early stop codon
85
What does a Southern blot detect?
DNA
86
What does a Northern blot detect?
RNA
87
What does a Western blot detect?
Protein
88
What are the essential amino acids
"PVT TIM HALL"
89
What are the essential fatty acids?
Linolenic
90
What are the acidic amino acids?
| neg charge
Asp, Glu
91
What are the basic amino acids?
| pos charge
His, Arg, Lys
92
What are the O-bond amino acids?
Ser, Thr, Tyr
93
What are the N-bond amino acids?
Asparagine, Glutamine
94
What are the branched amino acids?
Leu, Ile, Val
95
What are the aromatic amino acids?
Phe, Tyr, Trp
96
What is the smallest amino acid?
Gly
97
What are the ketogenic amino acids
Lys, Leu
98
What are the glucogenic + ketogenic amino acids?
"PITT" Phe, Iso, Thr, Trp
99
What are the glucogenic amino acids?
All the rest
100
What amino acids does Trypsin cut?
| Trip to LA
Lys, Arg
101
What amino acids has sulfur
Cys, Met
102
What amino acids does Acid Hydrolysis denature?
Asn, Gln
103
What amino acids does Chymotrypsin cut?
Phe, Tyr, Trp
104
What amino acid turns yellow on Nurhydrin reaction?
Pro
105
What does Carboxypeptidase cut?
Left of any amino acid on the carboxy terminal
106
What does Aminopeptidase cut?
Right of N terminus
107
What does CNBr cut?
Right of Met
108
What does Mercaptoethanol cut?
Right of Cys, Met
109
What does Elastase cut?
Right of Gly, Ala, Ser
110
What does Trypsin cut?
Arg, Lys
111
What does Chymotrypsin cut?
Phe, Tyr, Trp
112
What 1 – AntiTrypsin do?
Inhibits trypsin from getting loose
113
What is PKU?
No Phe (via Phe Hydroxylase): Nutrasweet sensitivity, mental retardation, pale, blond hair, blue eyes, musty odor
114
What is Albinism?
No Tyr --> Melanin (via Tyrosinase)
115
What is Maple Syrup Urine disease?
Defective metabolism of branched aa (Leu, Iso, Val) =>aa leak out
116
What is Homocystinuria?
No Homocystine Cys: "COLA" stones Cystine, Ornithine, Lysine, Arginine
117
What is Pellagra?
Niacin deficiency: Dermatitis, Diarrhea, Dementia, Death
118
What is Hartnup's?
No Trp => Niacin + Serotonin
. Presents like Pellagra
. Can mimic corn-rich diet
119
What causes anterior leg bowing?
Neonatal syphilis
120
What causes lateral leg bowing?
Rickets
| vit D deficiency
121
What are the names of the B vitamins
"The Rich Never Lie about Panning vitamins? Pyrite Filled Creeks"
Vit B1 = Thiamine
Vit B2 = Riboflavin
Vit B3 = Niacin
Vit B4 = Lipoic acid
Vit B5 = Pantothenic acid
Vit B6 = Pyridoxine
Vit B7 = Biotin
Vit B9 = Folate
Vit B12 = Cobalamin
122
What does Vit A do?
Night vision, CSF production, PTH
rapid cell maturation
123
What does Vit B1 do?
| reations?
Dehydrogenases, transketolase (PPP) cofactors
124
What does Vit B2 do?
FAD cofactor
125
What does Vit B3 do?
NAD cofactor or NADP
126
What does Vit B4 do?
Glycolysis, no known diseases
127
What does Vit B5 do?
Part of AcetylCoA, no known diseases
128
What does Vit B6 do?
Transaminase cofactor, myelin integrity
129
What does Vit B9 do?
Nuclear division
130
What does Vit B12 do?
Cofactor for HMT and MMM
Homocysteine methyltransferase
Methyl Malonyl CoA Mutase
131
What does Vit C do?
Collagen synthesis
Antioxidant
132
What does Vit D do?
Mineralization of bones, teeth
Absorb Ca and PO4 from GI
133
What does Vit K do?
Clotting factors
134
What does Biotin do?
Carboxylation
135
What does Ca2+ do?
Neuronal function, atria depolarization, SM contractility
136
What does Cu2+ do?
Collagen synthesis
137
What does Fe2+ do?
Hb function, electron transport
138
What is Bronze pigmentation?
Fe deposit in skin
139
What is Bronze cirrhosis?
Fe deposit in liver
140
What is Bronze diabetes?
Fe deposit in pancreas
141
What is Hemosiderosis?
Fe overload in bone marrow
142
What is Hemochromatosis?
Fe deposit in organs
143
What does Mg2+ do?
PTH and kinase cofactor
144
What does Zn2+ do?
Taste buds, hair, sperm function
145
What does Chromium do?
Improve Insulin function
146
What does Mb do?
Purine breakdown (xanthine oxidase)
147
What does Manganese do?
Glycolysis
Stimulates insulin production,activity n glucose uptake
148
What does Selenium do?
Heart function => dilated cardiomyopathy
149
What does Tin(Sn) do
Hair
150
What is Kwashiorkor?
Malabsorption, big belly (ascites), protein deficiency
151
What is Marasmus?
Starvation, skinny, calorie deficiency
152
Where does the Pre label send stuff
to?
RER
153
Where does the Pro label send stuff
to
Golgi
154
Where does the Mannose-6-P send stuff to?
Lysosome
155
Where does the N-terminal sequence send stuff to?
Mitochondria
156
What are the 4 types of collagen?
"SCAB"
Type I: Skin, bone
Type II: Connective tissue, aqueous humor
Type III: Arteries
Type IV: Basement Membrane
157
How does Scleroderma present?
Tight skin
158
How does Ehlers Danlos present?
Hyperstretchable skin
159
How does Marfan's present?
Hyperextensible joints, arachnodactyly, wing span longer than height, Aortic root dilatation, aortic aneurysm, mitral valve prolapse, Dislocated lens from bottom of eye look up
160
How does Homocystinuria present?
Dislocated lens from top --> Look down
161
How does Kinky hair disease present?
Hair looks like copper wire (Cu deficiency)
162
How does Scurvy present?
Bleeding gums, bleeding hair follicles
163
How does Takayasu arteritis present?
Asian female with very weak pulse
164
How does Osteogenesis Imperfecta present?
Shattered bones, blue sclera
165
What is the typical incidence of rare things?
1-3%
166
What is the typical incidence with 1 risk factor?
10%
167
What is the typical incidence with 2 risk factors?
50%
168
What is the typical incidence with 3 risk factors?
90%
169
What does Autosomal Dominant usually indicate?
Structural problem, 50% chance of passing it on
170
What does Autosomal Recessive usually indicate?
Enzyme deficiency, 1/4 get it, 2/3 carry it
171
Where did X-linked Recessive diseases come from?
From maternal uncle or grandpa
172
What are the X-linked Dominant diseases?
Vit D-resistant rickets (kidney leaks phosphorus): waddling gait
Pseudohypoparathyroidism:
sausage digits, osteodystroph
173
Where did X-linked Dominant
diseases come from?
Dad--> Daughter
174
What are the Mitochondrial diseases?
Leber's = atrophy of optic nerve
Leigh's = subacute necrotizing
encephalomyelopathy
175
Where did Mitochondrial diseases come from?
Mom--> all kids
176
Why do we only have 6hrs to use t-PA?
The body has irreversible cell injury
177
Why do we stop CPR after 20-30min
The brain has irreversible cell injury
178
What is Turner's?
(X,O): web neck, cystic hygroma, shield chest, coarctation of aorta, rib notching
179
What is Klinefelter's?
(47, XXY): tall, gynecomastia, infertility, decrease testosterone
180
What is XXX syndrome?
(47, XXX): normal female w/ two Barr bodies
181
What is XYY syndrome?
(47, XYY): tall aggressive male
182
What is Trisomy 13?
Patau's, polydactyly, high arch palate, pee problem, holoprosencephaly
183
What is Trisomy 18?
Edward's, rocker bottom feet
184
What is Trisomy 21?
Down's, simian crease, wide 1st/2nd toes, macroglossia, Mongolian slant of eyes, Brushfield spots, retardation AML
185
What disease has a Dinucleotide repeat?
HNPCC (FAP)
186
What diseases have Trinucleotide repeats?
Huntington's, Fragile X, Myotonic Dystrophy, Friedreich's Ataxia
187
What is Angelman's?
"Happy puppet syndrome", ataxia
188
What is Prader-Willi?
Hyperphagia, hypogonadism, almond- shaped eyes
189
What is Kallman's?
Anosmia, small testes
190
What is Anaplasia?
Regress to infantile state
191
What is Atrophy?
Decreased organ or tissue size
192
What is Desmoplasia?
Cell wraps itself w/ dense fibrous tissue
193
What is Dysplasia "carcinoma in situ"?
Lose contact inhibition (cells crawl on each other)
194
What is Hypertrophy?
Increased cell size
195
What is Hyperplasia?
Increased cell number
196
What is Metaplasia?
Change from one adult cell type to another
197
What is Neoplasm?
New growth
198
What is Benign?
Well circumscribed, freely movable, maintains capsule, obeys physiology, hurts by compression, slow growing
199
What is Malignant?
Not well circumscribed, fixed, no capsule, doesn’t obey physiology, hurts by metastasis, rapidly growing (outgrows angiogenin and endostatin to inhibit blood supply of other tumors)
200
What are the fastest killing cancers?
Pancreatic cancer, Esophageal cancer
201
What does Adeno- tell you?
Glandular
202
What does Leiomyo- tell you?
Smooth muscle
203
What does Rhabdomyo- tell you?
Skeletal muscle
204
What does Hemangio- tell you?
Blood vessel
205
What does Lipo- tell you?
Fat
206
What does Osteo- tell you?
Bone
207
What does Fibro- tell you?
Fibrous tissue
208
What does –oma tell you?
Tumor
209
What does –carcinoma tell you?
Cancer
210
What does –sarcoma tell you?
Connective tissue cancer
211
What is a Hamartoma?
Abnormal growth of normal tissue
212
What is a Choristoma?
Normal tissue in the wrong place
213
What is the most common anterior mediastinum tumor?
Thymoma
214
What is the most common middle mediastinum tumor?
Pericardial
215
What is the most common posterior mediastinum tumor?
Neuro tumors
216
What organs have the most common occurrence of metastasis?
| highly vascular organs
"BBLLAP"
Brain (grey-white jxn)
Bone (bone marrow)
Lung
Liver (portal vein, hepatic artery)
Adrenal gland (renal arteries)
Pericardium (coronary arteries)
217
What cancers have psammoma bodies?
Papillary (thyroid)
Serous Adenocarcinoma (ovary)
Meningioma
Mesothelioma
218
What cancer has CA-125
Ovarian
219
What cancer has CA-19?
Pancreatic
220
What cancer has S-100?
Melanoma
221
What cancer has BRCA?
Breast
222
What cancer has PSA?
Prostate
223
What cancer has CEA?
Colon, Pancreatic
224
What cancer has AFP?
Liver, Yolk sac
225
What cancer has Rb?
Ewing's sarcoma, Retinoblastoma
| Osteosarcoma
226
What cancer has Ret?
Medullary thyroid cancer
| MEN2a/b
227
What cancer has Ras?
Colon
228
What cancer has bcl-2?
Follicular lymphoma
| t(14:18)
229
What cancer has c-myc?
Burkitt’s lymphoma
| T(8:14)
230
What cancer has L-myc?
Small cell lung carcinoma
231
# G1 phase cell apoptosis
tumor supressor
P53
| Li-Fraumeni
232
# tumor supressor
inhibit E2F transcription factor
Rb
Osteosarcoma
Retinoblastoma
233
# tumor supressor
APC gene product
| function
inhibit Beta catenin systesis
| inhibit unregulated proliferation
234
APC cancer
FAP &
sporadic colorectal cancer
235
# tumor suppressor
trascription factor that regulates urogenital development
WT1/2
| Wilms tumor
235
# Tumor suppressor
BRCA 1/2 gene product
DNA repair protein
| Breast, ovary , pancrease
236
What cancer has N-myc?
Neuroblastoma => pseudorosettes
| Bombesin
237
What cancer has Bombesin?
Neuroblastoma
238
What cancer has -HCG?
Choriocarcinoma
239
What cancer has 5-HT?
Carcinoid syndrome
240
What has t(9,22)?
CML (bcr-abl gene)
| CLL & ALL
241
What has t(14,18)?
Follicular lymphoma (bcl-2 gene)
242
What has t(8,14)?
Burkitt's lymphoma (c-myc gene)
243
What has t(15,17)?
AML M3
| Promyelocytic leukemia protein
244
What has t(11,22)?
Ewing's sarcoma
245
PNH an acquire hematopoietic mutation is associated with
Aplastic anemia
Specktrin/Ankerin
| MAC
246
# association
CD59/MIRL (Membrane inhibitor of reactive lysis)
CD55/DAF (Decay-accelerating factor)
PNH &
Myelodysplastic neoplasms
247
PNH lab
LDH=
Cell line=
Bilirubin =
Pancytopenia, high serum LDH, hyperbilirubinemia,
248
Defect in PNH
HAM’s test
Glycosylphosphatidylinositol (GPI)
DAF:CD 55 AND CD59 ON CELL MEMBRANE
249
Moa of Botox
Prevent ACH release by cleaving snare protein
250
Alport syndrome inheritance pattern
X-linked dominant
251
NF-1 associated with
Cafe-au-lair spot, Lisch nodules, scoliosis
Variable expressively
252
Median-chain acyl-CoA dehydrogenase function (MCAD)
Oxidized fatty acid
FADH2
| low ketones
Low glucose
253
MCAD def sign
Lab
Low glucose
No ketones
Octanoyl-glycine
254
what is a tumor suppresor gene
controls and suppress cell prolifertion
| loss of function
255
RNA analysis
Northern blot
255
What is a proto-oncogene
encodes protein for normal cell division and differentiation
| gene of function/overexpression
256
# Tumor suppressor
NF 1/2 chromosome
17 periferal
22 schwannomin
257
# proto-oncogene
t(11:14)
mantle cell lymphoma
258
# proto-oncogene
BCL-2
Folicular lymphoma
259
# proto-oncogene
L/N/C- myc
| product
transcription factors
| Cancers?
260
# proto-oncogene
BCR-ABL gene product
non-receptor tyrosine kinase
CML: t(9:22)
ALL
261
# proto-oncogene
BRAF product
serine/threonine kinase
melanoma
hairy cell leukemia
papillary thyroid
non-hodgkin
| **P**sa**M**moma bodies
262
# proto-oncogene
RET
Men 2a/b
263
depletion of which cofactor inhibits glycolysis
NAD+
264
# Presentation
Bubble kids: all infections
| defect
IL2 receptor
adenosine deaminase(x-linked)
| SCID
265
# Presentation
Thymic hypoplasia/low Calcium
| defect
Deletion Chromosome 22/
3 pharyngeal pouch
| DiGeorge
266
# presentation
Young adult Bacteria, Parasite, Enterovirus
Defective plasma Cells
Normal B cells
Low IgA
266
# presentation
Bacteria, parasite, enterovirus in boys
| Defect
BTK gene, tyrosine kinase,
Low B cells
Low IgA
| Bruton's
267
# Presentation
Infections, ataxia, telangiectasias
Ataxia Telangectasia
Gene?
ATM gene
defective DNA repairs
268
# presentation
Delayed umbilical cord detachment
| LAD
Defective CD18
integrins (adhesion)
269
# presentation
Catalase pos infection/Rhodamine
| defect
NADPH deficiency
| CGD
270
# presentation
Albinism/neurological symptoms
| defect
Lysosomal movement impairment
| Chediak-Higashi
271
# presentation
Cold abscess/exzema/Normal platelets
| defect
Defective Th17-JAK-STAT
| Job/Hi IgE
272
# presentation
abscess/eczema/Low platelets
Wiskott-Aldritch
What is the defect?
WAS gene cytoskeleton defect
273
Immature T Cell marker
CD3
274
T Helper marker
CD4
275
Cytotoxic cell marker
CD8
276
Hairy cell leukemia marker
CD11c
277
CD 14
CD4
macrophage
monocyte
278
CD 15/30
Reed Stemberg Cells
279
NK cell marker
CD16/56
280
CD18 integrins
Leukocyte adhesion Deficiency B2
281
CD19/20/21
mature BCell
282
CD 25
T reg Cell
283
CD 28
Connects to B7
T Cll Co stimulation receptor
284
PECAM-1angiosarcomas
CD31
285
paroxysmal Nocturnal Hemoglobinuria marker
CD 55/59
286
CD80/B7
Protein in the APC
287
inhibits beta-oxidation
Malonyl-CoA
288
MOA of Acetyl-CoA carboxylase
converts Acetyl-CoA to Malonyl-CoA
| de novo fatty acid synthesis rate-limiting step
289
mitochondrial carnitine acyltransferase is inhibited by
hi malonyl-CoA
