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Flashcards in Biochemistry Deck (192):
1

Ribonucleotide reductase drug

Hydroxy urea (HURR)

2

ADA def

SCID

3

Drug for lesch nyhan

Allopurinol, febuxostat

4

Lesch nyhan enz

HGPRT

5

Thymidylate synthase drug

5FU (FUTS)

6

Frame shift mutation eg

Duchene MD

7

Missense mutation eg

Sickle CA (aa changed)

8

eg of NHEJ abnormality

ataxia telengectasia, fanconi anemia

9

what dimer UV cause

thymine

10

RNA polymerase inhibitor drugs

rifampicin, actinomycin D(both pro and eu)

11

chloramphenicol MOA

inhibit peptidyl transferase (A to P site)

12

Streptomycin

bind to 30s, inhibit formation of initiation complex

13

collage structure

glycine, X Y

14

vitamin C in collagen

hydroxylation of proline and lysine

15

osteogenesis imperfecta mech

problem forming collagen triple helix (Type 1)

16

south western blot

DNA binding proteins

17

pleotropy

one gene corresponds to multiple defects

18

locus heterogeneity

mutations in different loci same disease (albinism)

19

allelic heterogeneity

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

20

heteroplasmy

both normal and mutated mtDNA results in variable expression

21

AD and AR

structural genes and enzymes

22

X linked dominant eg

hypophosphatemic rickets

23

ragged red fibers

mitochondrial myopathy

24

B/L acoustic schwannoma

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