Biochemistry Flashcards

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1
Q

Ribonucleotide reductase drug

A

Hydroxy urea (HURR)

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2
Q

ADA def

A

SCID

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3
Q

Drug for lesch nyhan

A

Allopurinol, febuxostat

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4
Q

Lesch nyhan enz

A

HGPRT

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5
Q

Thymidylate synthase drug

A

5FU (FUTS)

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6
Q

Frame shift mutation eg

A

Duchene MD

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7
Q

Missense mutation eg

A

Sickle CA (aa changed)

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8
Q

eg of NHEJ abnormality

A

ataxia telengectasia, fanconi anemia

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9
Q

what dimer UV cause

A

thymine

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10
Q

RNA polymerase inhibitor drugs

A

rifampicin, actinomycin D(both pro and eu)

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11
Q

chloramphenicol MOA

A

inhibit peptidyl transferase (A to P site)

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12
Q

Streptomycin

A

bind to 30s, inhibit formation of initiation complex

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13
Q

collage structure

A

glycine, X Y

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14
Q

vitamin C in collagen

A

hydroxylation of proline and lysine

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15
Q

osteogenesis imperfecta mech

A

problem forming collagen triple helix (Type 1)

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16
Q

south western blot

A

DNA binding proteins

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17
Q

pleotropy

A

one gene corresponds to multiple defects

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18
Q

locus heterogeneity

A

mutations in different loci same disease (albinism)

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19
Q

allelic heterogeneity

A

different mutations in the same locus, same phenotype (thalassemia)

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20
Q

heteroplasmy

A

both normal and mutated mtDNA results in variable expression

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21
Q

AD and AR

A

structural genes and enzymes

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22
Q

X linked dominant eg

A

hypophosphatemic rickets

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23
Q

ragged red fibers

A

mitochondrial myopathy

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24
Q

B/L acoustic schwannoma

A

NF type 2

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25
Q

absent vas deferens

A

CF

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26
Q

CF voltage

A

more negative transepithelial potential difference

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27
Q

Rx of CF

A

N-acetyl cysteine (cleaves disulphide bonds in mucous glycoproteins)

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28
Q

death in duchenne

A

DCM

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29
Q

duchenne mech

A

truncated dystrophin

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30
Q

fragile X syndrome mech

A

CGGn, hypermethylation of cytosine base -> inactivation of FMR1 gene

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31
Q

CF of fragile X syndrome

A

eXtra large testes, jaws and ears, Mitral valve prolapse

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32
Q

quad screen

A

for down synd, beta HCG and inhibin A increased

aFP and estriol decreased

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33
Q

CF gene which chromosome

A

7

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34
Q

22 q11 deletion syndromes

A

diGeorge (thymic, parathyroid, and cardiac) and velocardiofacial (palate, facial and cardiac)

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35
Q

CI of isotretinoin

A

pregnancy

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36
Q

what is B3

A

niacin

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37
Q

B3 derived from

A

tryptophan

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38
Q

vitamin used to treat dyslipidemia

A

Niacin

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39
Q

NAD derived from which vitamin

A

B3, niacin

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40
Q

B5

A

pantothenic acid

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41
Q

B5 for

A

pantothenic acid for CoA

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42
Q

B6

A

pyridoxine

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43
Q

B6 for (very important vitamin)

A

transamination

Synthesis of cystathionine heme, niacin, histmine, and neurotransmitters like sertonin, E, NE, dopamine & GABA

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44
Q

B7

A

biotin

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45
Q

B7 for

A

biotin for carboxylation (adding C)

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46
Q

B9

A

folate

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47
Q

B12

A

cobalamin

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48
Q

two enzymes with B12

A

Homocysteine methyl transferase, Methyl malonyl CoA mutase (isomerase)

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49
Q

Maple syrup urine disease def

A

alpha keto acid dehydrogenase (need thiamine)

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50
Q

regulator of carbamoyl synthetase I

A

N acetyl glutamate

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51
Q

von Gierke def

A

glucose 6 phosphatase (increased uric acid)

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52
Q

DNA topoisomerase function

A

create break in the helix to add or remove supercoils

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53
Q

Fluroquinolones MOA

A

inhibit Topoisomerase II (DNA gyrase)

topoisomerase IV

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54
Q

LAC operon which binds to which

A

CAP to promoter

repressor to operator

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55
Q

nucleotide excision repair disease

A

xeroderma pigmentosum (UV -> thymine dimer)

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56
Q

stop codons

A

UGA
UAA
UAG

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57
Q

boxes of promoter

A

TATA (-25)

CAAT (-70)

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58
Q

enhancer and silencer positions

A

anywhere

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59
Q

First transcript is called

A

hnRNA (heterogenous nuclear)

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60
Q

signal for poly A tail

A

AAUAAA

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61
Q

Anti-smith antibodies what and seen in

A

to snRNP

SLE

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62
Q

Kozak consensus sequence

A

on eukaryotic mRNA (initiation of translation)

Associated with thalassemia intermedia beta globin

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63
Q

what inhibit G1 to S progression

A

p53 and Rb (tumor suppressor genes)

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64
Q

peroxisome: metabolism of what

A

VLCFA

branched chain FA

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65
Q

micro vs. intermediate filament fn.

A

micro (actin, movement)

intermediate (maintain cell structure)

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66
Q

6 steps in collagen synthesis

A

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)

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67
Q

hereditary hemorrhagic telengectasia aka

A

Hosler Heber Tendu syndrome

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68
Q

Li Fraumeni syndrome

A

SBLA cancer syndrome

sarcoma, breast, leukemia adrenals

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69
Q

3 things about von Hippel Lindau disease

A

chromosome 3

1) cerebellar hemangioblastoma, 2) renal cell ca and 3) pheochromocytoma

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70
Q

4 trinucleotide expantion disease

A

Fragile X syndrome
Friedreich ataxia
Huntington disease
Myotonic dystrophy

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71
Q

ATP of B1

A

alpha-ketoglutarate dehydrogenase
transketolase
Pyruvate dehydrogenase

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72
Q

vitamin D and sun

A

7-dehydro cholesterol becomes cholecalciferol

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73
Q

HUG

A

heme, urea and gluconeogenesis

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74
Q

dehydrogenase enzyme for

A

redox reactions

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75
Q

glucose sensor of beta cell

A

glucokinase

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76
Q

4 fates of pyruvate

A

alanine (ALT)
oxaloacetate (PC)
acetyl coA (PDH)
lactate (LDH)

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77
Q

oxaloacetate to PEP: enz

A

PEP carboxy kinase

78
Q

aldolase B equivalent of galactose

A

G1P uridyl transferase

79
Q

fn. of aldose reductase

A

galactose to galactitol

glucose to sorbitol

80
Q

glucogenic EAA

A

He Met Vali

81
Q

secondary protein structure formed by

A

hydrogen bond

82
Q

basic AA

A

arginine, lysine and histidine

83
Q

most common def in urea cycle

A

ornithine transcarbamylase

84
Q

alpha ketogllutarate receives NH3 from alaine and becomes

A

glutamate (in liver)

85
Q

sequence of events from phenyl alanine

A
phenyl alanine
tyrosine (thyroxine and homogentisic acid)
DOPA (melanin)
dopamine
NE
E
metanephrine
VMA
86
Q

which enz for NE to E

A

PNMT

87
Q

homocyteine can become

A

methionine

Cystathione then cyteine

88
Q

von Gierkes disease

A

type I

G6Pase

89
Q

pompe remember

A

lysosome (alpha 1,4)
heart (HCM)
tongue

90
Q

cori remember

A

corum

alpha 1,6

91
Q

fabry first

A

Alpha galactosidase A
fabrics and ceramics (ceramide TriheXoside accumulate)
X for XR

92
Q

Krabbe is a galactose version of

A
Gaucher
Krab vision (optic atrophy)
93
Q

Hurler also starts with

A

alpha

alpha L iduronidase

94
Q

last glycogen storage disease also starts with …

Also what is the connect between hunter

A

Aryl sulfatase A

Connection is sulfatase (hunter: iduronate sulfatase)

95
Q

Enz of beta oxidation

A

Acyl CoA dehydrogenase

96
Q

Exercise fuel use

A

stored ATP
creatine phosphate
anaerobic

97
Q

two cells that cannot use ketone bodies

A

RBC (lack mitochondria)

hepatocyte (lack thiophorase)

98
Q

apolipoprotein B48 for

A

chylomicron

99
Q

apolipoprotein CII for

A

lipoprotein lipase

For two things (chylomicron and VLDL)

100
Q

apolipoprotein E for

A

chylomicron and VLDL uptake

101
Q

apolipoprotein B100 for

A

LDL receptor in extrahepatic tissue

102
Q

apolipoprotein A-I for

A

LCAT

103
Q

hyperchylomicronemia due to

A

defect in lipoprotein lipase or C-II

104
Q

hypertriglyceridemia due to

A

overproduction of hepatic VLDL

105
Q

Chylomicron contains

A

TG (become FFA) ad cholesterol (in the remnant)

106
Q

hyperlipoproteinmia defect in

A

apo E3 and E4

107
Q

MI in 8 year old

A

homocystinuria

108
Q

loss of milestones

A

Nieman Pick

109
Q

tryptophan can gives rise to

A

niacin

serotonin (5HT) and then melatonin

110
Q

p062. Linker histone

A

H1

111
Q

p062. heterochromatin code

A

highly condensed

112
Q

p062. DNA/histone methylation and acetylation

A

methylation mute and acetylation active

113
Q

p063.nucleoTides are connected by …bonds

A

3’ 5’ bonds (three for Tide)

114
Q

p064.self mutilation

A

lesh nyhan sydrome (HGPRT def)

115
Q

p065.topoisomerase fn

A

SSB/DSB to add or remove supercoils (gyrase is topo-II)

116
Q

p065.primase fn

A

Make RNA primers

117
Q

p065. RNA primer degraded by

A

poly I (first is special)

118
Q

p065. telomerase is a

A

RNA dependent DNA polymerase

119
Q

p065. proof reading activity is

A

3’ 5’ exonuclease

120
Q

p067. No Tax for DamN Pig

A

NHEJ/ataxia T and Damaged bases/Nucleotide repair/X. pigmentosa

121
Q

p067. altered bases need an

A

alkootam starting with glycosylase

122
Q

p068. TATA to…and CAAT for…

A

25 and 70

123
Q

p068. Three RNA poly inhibitors

A

alpha amanitidine, rifampicin, actinomycin D

124
Q

p069. eg. Abnormal splicing disease

A

beta thal

125
Q

p069. Kozak vs. shine dalgarno

A

eukaryotic vs prokaryotic (seen in mRNA for translation)

126
Q

p070. 4 arms of tRNA

A

D detection, T touching, CCA (covalently carry AA), anti-codon

127
Q

p071.ribosomal subunits for pro and eu

A

eu: 40+60=80; pro 30+50=70

128
Q

p071.chloramphenicol MOA

A

inhibit peptidyl transferase (A to P site)

129
Q

p072.smooth ER fn

A

steroid syn and detoxification

130
Q

p073. I cel disease what decreased

A

Mannose 6 phosphate on lysosomal enzymes (goes outside instead)

131
Q

p073. marker of peroxisome disease

A

VLC FA

132
Q

p074. vimentin

A

CT

133
Q

p074. neurofilament

A

neuron

134
Q

p074.microtubule drugs

A

mebenda, griseo, colchi, vin.vin, pacli

135
Q

p075. alport syndrom what defect

A

defective coll IV basement membrane

136
Q

p076. 3rd step in SynDro GlyXo ProSS and what bond

A

triple helix: disulphide bonds

137
Q

p077. menke disease

A

decreased copper absorption (ATP7A)

138
Q

p080. allelic heterogeneity ex

A

beta thal

139
Q

p080. mosaicism ex

A

McCune albright (U/L café au, bone and endocrine (early puberty)

140
Q

p081. prader willi

A

paternal deltion (maternal imprinting): hyperphagia, hypotonia

141
Q

p082. hypophosphatemic rickets inheritance

A

XD (phosphate wasting in PCT)

142
Q

p083. recurrent epistaxis

A

HHT (osler weber rendu)

143
Q

p083. SBLA syndrome

A

p53 mutation

144
Q

p083. disease of 3

A

Von Hippel Lindau (cerebellar hemangioblastoa, RCC, Phaeochro) Chro 3

145
Q

p084. 2 findings in CF newborn

A

Meconium ileus, increased immunoreactive trypsinogen

146
Q

p085. Duchene vs. Becker

A

frame shift deletion vs non-frameshift insertion

147
Q

p085. frontal balding

A

myotonic dystrophy

148
Q

p085. fragile X versus huntingon

A

Hypermethylation vs. hypoacetylation

149
Q

p086. Bin up

A

beta HCG ad Inhibin up in down (estrol and AFP down)

150
Q

p086. Edward syndrom E for

A

Ellathum down and E like fingers (note:polydactyly in patau)

151
Q

p087. 3 microdeletions

A

5 (cri-du chat), 7 (willams friendly), 22q11

152
Q

p089. Wernicke K triad

A

confusion, ataxia and opthalmoplegia

153
Q

p090. niacin made from

A

tryptophan (need B2 and B6)

154
Q

p090. B5 is a component of

A

CoA

155
Q

p090. B6 important for

A

transaminationSynthesis of cystathionine heme, niacin, histmine, and neurotransmitters like sertonin, E, NE, dopamine & GABA

156
Q

p091. B7 for

A

carboxyltion (biotin; add one Carbon)

157
Q

p091. Valproi acid and FA ineraction

A

reduced absorption

158
Q

p092. B12 enzymes

A

Homocysteine methyl transferase, Methyl malonyl CoA mutase (isomerase)

159
Q

p093. cork scew hair and perifolliculr hge

A

C

160
Q

p093. milk or sun gives

A

cholecalciferol (from 7 dehydro cholesterol)

161
Q

p093. two vitamin def neuropathy

A

B12 and E

162
Q

p094. zinc def

A

acrodermatitis enteropathica

163
Q

p095. summarize metabolic stuff in alcoholism

A

increased ketone, lactin acid, fat and decreased glucose

164
Q

p096. kinase enzyme opposite and similar

A

phosphorylase (similar), phosphatase (opposite)

165
Q

p096. RLS of FA synthesis

A

Acetyl CoA carboxylase

166
Q

p096. RLS of gluconeogenesis

A

Frucsose 1-6 biphosphatase

167
Q

p098. muscle TCA cycle ATP

A

30 (glycerol phosphate shuttle)

168
Q

GluPaL is MODY

A

glucokinse in Pancreas and liver (associated with MODY)

169
Q

p100. PC is OX

A

pyruvate carboxylase makes oxaloacetate

170
Q

p100. TCA cycle code

A

Citrate Is Krebs Starting Substrate For Making Oxaloactate

171
Q

p101. cyanide MOA

A

ETC inhibiotor

172
Q

p101. oligomycin MOA

A

inihbit ATP synthase

173
Q

p101. thermogenin MOA

A

uncoupling agent

174
Q

p102. G6PD inheritance

A

XR

175
Q

p102. Heinz bodies seen in

A

G6PD (denatured Hb)

176
Q

p103. Name frucose disease

A

essential fructosuria

fructose intolerance

177
Q

p103. Galactose diseases

A
Gaactkokinse def
classic galactosemia (Mental R, E coli sepsis, Liver)
178
Q

p103. Hexose to “ol” by

A

aldose reductase

179
Q

p103. Aldose B equivalent of galactose

A

uridyl transerase

180
Q

p104. fn of sorbitol dehydrogenase

A

sorbitol to fructose (not in retina, schwann, kidney)

181
Q

p104. Basic AA

A

HAL (HA for growth)

LA for histone

182
Q

p105. code for urea cycle

A

Ordinaritly Careless Crappers Are Also Frivalous Abotu Urinvation

183
Q

p105. NH3+ aKG

A

glutamate

184
Q

p107. DOPA to melanin enzyme

A

tyrosinase

185
Q

p108. homocytine vs cystine (CF)

A

MI/marfan vs. COLA

186
Q

p108. cyanide nitropurssudde test

A

cystinuria (done in urine)

187
Q

p109. two enzymes in glycogen meta

A

glycogen synthase and phosphorylase

188
Q

p109. branching enzyme

A

branch 6 letters (alpha 1,6 glucosidase)

189
Q

p112. beta oxidation enzyme

A

acyl coA dehydrogenase

190
Q

p113. two organs can’t use ketones

A

liver and RBC

191
Q

p115. recurrent pancreattis

A
increased TG (hyperchylomicronemia)
also in hyperTG
192
Q

Succinate dehydrogenase 2 fm

A

ETC II

Succinate to fumarate