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USMLE PREP!!!! > BioChemistry > Flashcards

BioChemistry Flashcards

1
Q

Boot-shaped heart

A

RVH, ToF

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2
Q

Continuous machine-like murmur

A

PDA

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3
Q

Tendon xanthomas

A

Familial Hypercholesterolnemia

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4
Q

Café-au-lait spots

A

Neurofibromatosis 1 and 2 & McCune-Albright Syndrome

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5
Q

Tuft of hair on lower back

A

spina bifida occulta

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6
Q

Classic triad of tuberous sclerosis?

A

Seizures, angiofibromas, mental retardation

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7
Q

The cell type proliferates during lung damage?

A

type II pneumocyte

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8
Q

Plummer-Vincent Syndrome is characterized by

A

Fe-deficient anemia, esophageal web, atrophic glossitis

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9
Q

Symptoms of Plummer-Vincent Syndrome

A

Anemia + Dysphagia + Beefy-red tongue

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10
Q

Prader-Willi Syndrome Genetics

A

Imprinting: maternal allele is inactive

Paternal allele has deletion of chromosome 15

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11
Q

Angelman Syndrome Genetics

A

Imprinting: paternal allele is inactive

Maternal allele has deletion of chromosome 15

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12
Q

Screening Test for HIV

A

Indirect ELISA (known Ag to test for pt Abs)

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13
Q

Confirmatory Test for HIV

A

Western blot

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14
Q

Carbamoyl Phosphate Synthetase 1 - Pathway

A

Urea Cycle

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15
Q

Carbamoyl Phosphate Synthetase 1 - Location

A

Mitochondria

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16
Q

Carbamoyl Phosphate Synthetase 1 - N Source

A

Ammonia

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17
Q

Carbamoyl Phosphate Synthetase 2 - Pathway

A

Pyrimidine Synthesis (Rate limiting step)

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18
Q

Carbamoyl Phosphate Synthetase 2 - Location

A

Cytosol

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19
Q

Carbamoyl Phosphate Synthetase 2 - N Source

A

Glutamine

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20
Q

Nucleosome core is composed of

A

2 - H2A
2- H2B
2 - H3
2 - H4

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21
Q

Nucleosome core is (+) charge d/t

A

arginine & lysine residues

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22
Q

Function of Histone H1

A

stabilize nucleosome/DNA (linker histone)

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23
Q

Heterochromatin

A

tightly packed

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24
Q

Euchromatin

A

loosely packed

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25
Q

DNA methylation at CpG islands results in

A

repressed transcription

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26
Q

Histone methylation results in

A

repressed transcription mainly

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27
Q

Histone acetylation results in

A

active transcription

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28
Q

Purines

A

A, G

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29
Q

Pyrimidines

A

C, U, T

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30
Q

Deamination of cytosine results in

A

uracil

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31
Q

Which nucleotide pair has a higher melting temp?

A

G & C -> 3 hydrogen bonds

A & T have 2 H bonds

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32
Q

Purine synthesis requires which amino acids

A

Glycine, Aspartate, Glutamine

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33
Q

UMP Synthase

A

Orotic Acid + PRPP —->UMP

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34
Q

CPS-II

A

CO2 + Glutamine —-> Carbamoyl Phosphate

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35
Q

Ribonucleotide Reductase

A

UDP —-> dUDP

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36
Q

Thimidylate Synthase

A

dUMP ——> dTMP

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37
Q

What molecule is necessary for the production of Thymine?

A

Tetrahydrofolate

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38
Q

Dihydrofolate Reductase

A

Dihydrofolate —-> Tetrahydrofolate

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39
Q

Glutamine PRPP Amidotransferase

A

PRPP —-> IMP

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40
Q

IMP Dehydrogenase

A

IMP —–> GMP

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41
Q

Deficient UMP Synthetase

A

Orotic Aciduria

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42
Q

Pyrimidine synthesis requires which amino acids

A

glutamine, aspartate

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43
Q

Orotic Aciduria S/S

A

Orotic aciduria, megaloblastic anemia, normal ammonia levels

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44
Q

Tx for Orotic Aciduria

A

Supplement w/ Uridine

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45
Q

orotic aciduria + HYPERammonemia

A

Ornithine Transcarbamylase deficiency

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46
Q

Most common cause of Megaloblastic anemia?

A

Vit B12 or folate deficiency

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47
Q

Xanthine Oxidase

A

Xanthine & Hypoxanthine —-> Uric acid

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48
Q

What enzyme recycles Guanine or Hypoxanthine ——–> GMP or IMP?

A

HGPRT

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49
Q

What disease results from the absence of HGPRT?

A

Lesch-Nyhan Syndrome

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50
Q

Lesch-Nyhan Syndrome S/S

A

gout, aggressive behavior, low IQ, self-mutilation (lip biting), movement disorder (dystonia)

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51
Q

Lesch-Nyhan Syndrome Genetics

A

X-linked

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52
Q

Lesch-Nyhan Syndrome Tx

A

Allopurinol or Febuxostat

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53
Q

Orotic Aciduria Genetics

A

AR

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54
Q

Primosome

A

DNA Helicase + Primase Complex

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55
Q

Nonsense mutation

A

signals a stop codon (UAA, UAG, UGA)

56
Q

Mismatch Repair

A

cut daughter strand & remove segment containing mismatched base

57
Q

Nucleotide Excision Repair

A

Damage that occurs sometime after DNA replication (UV light –> thymidine dimer); excise base, remove damaged segment

58
Q

Hereditary Nonpolyposis Colorectal Cancer - defective

A

mismatch repair

59
Q

Xeroderma Pigmentosum - defective

A

nucleotide excision repair

60
Q

Bloom Syndrome - defective

A

helicase, affecting DNA replication & repair

61
Q

Ataxia Telangiectasia - defective

A

double-stranded DNA break repair

62
Q

Adenosine Deaminase deficiency

A

causes Severe Combined Immunodeficiency (SCID)

63
Q

BRCA-1/-2 - defective

A

double-stranded DNA break repair

64
Q

Crest Scleroderma

A

anti-centromere Ab

65
Q

Diffuse Scleroderma

A

anti-scl70 inhibiting topoisomerase

66
Q

lac operon produces what enzyme

A

b-galactosidase

67
Q

What 2 proteins regulate the lac operon?

A

CAP & lac repressor protein

68
Q

What 2 conditions allow for activation of the lac operon

A

excess lactose, absent glucose

69
Q

Hairpin loop

A

termination site of RNA transcription characterized by GC rich segment followed by uracil rich

70
Q

Termination of RNA transcription in prokaryotes?

A

rho factor or hairpin loop

71
Q

aminoacyl tRNA synthetase

A

A.A. + tRNA —-> aminoacyl tRNA (on 3’)

72
Q

peptidyltransferase

A

(23S ribozyme) transfers tRNA from A site to P site

73
Q

IF-2

A

binds 30S subunit & causes Met-aminoacyl tRNA to bind —-> initiating translation

74
Q

EF-G (prokaryotes) EF-2 (eukaryotes)

A

translocation for growing a.a. chain

75
Q

Post-translational modifications

A

trimmed, glycosylation, hydroxylation, disulfide linkages, etc

76
Q

Diptheria toxin & Exotoxin A inhibit

77
Q

Genetics Achondroplasia

78
Q

Genetics FAP

79
Q

Genetics Familial Hypercholesterolemia

80
Q

Genetics Osler-Weber-Rendu Syndrome

81
Q

Genetics Hereditary Spherocytosis

82
Q

Genetics Huntington Disease

83
Q

Genetics Marfan Syndrome

84
Q

Genetics MEN

85
Q

Genetics Neurofibromatosis-1/-2

86
Q

Genetics Tuberous Sclerosis

87
Q

Genetics Von-Hippel-Lindau Disease

88
Q

Genetics Leber hereditary optic neuropathy

A

Mitochondrial Inheritance

89
Q

Leigh Syndrome (subacute sclerosing encephalopathy)

A

Mitochondrial Inheritance

90
Q

Hardy Weinberg Equation

A

p + q = 1 p^2 + 2pq + q^2 = 1

91
Q

Anticipation

A

age of onset or worsening of disease occurs over successive generations (d/t trinucleotide repeats)

92
Q

Incomplete Penetrance

A

not all mutant genotypes will display phenotype

93
Q

What is an example of pleiotropy?

A

PKU (1 gene has multiple phenotypic effects)

94
Q

Example of locus heterogeneity?

A

Marfan (many genes may result in same phenotype)

95
Q

Example of imprinting?

A

Prader-Willi & Angelman Syndrome

96
Q

Genetics of Ocular Albinism

A

X-linked Recessive

97
Q

Genetics of Albinism

98
Q

Genetics of Fabry Disease

A

X-linked Recessive

99
Q

Genetics of Cystic Fibrosis

100
Q

Genetics of Glycogen Storage Disease

101
Q

Genetics of Hemochromatosis

102
Q

Genetics of Wiskott Aldrich

A

X-linked Recessive

103
Q

Genetics of G6PD deficiency

A

X-linked Recessive

104
Q

Genetics of Hunter Syndrome

A

X-linked Recessive

105
Q

Genetics of Bruton Agammaglobulinemia

A

X-linked Recessive

106
Q

Genetics of Mucopolysaccharidosis

107
Q

Genetics of PKU

108
Q

Genetics of Sickle Cell

109
Q

Genetics of Sphingolipidosis

110
Q

Genetics of Hemophilia A/B

A

X-linked Recessive

111
Q

Genetics of Thalassemias

112
Q

Genetics of Lesch-Nyhan Syndrome

A

X-linked Recessive

113
Q

Genetics of Duchenne Muscular Dystrophy

A

X-linked Recessive

114
Q

Most common cause of Lysosomal Storage Disease?

A

Gaucher Disease

115
Q

Southern Blot

116
Q

Northern Blot

117
Q

Indirect ELISA

A

Known Ag, pt Ab

118
Q

Ataxia telangiectasia - deficient

A

non homologous end joining

119
Q

Duchenne Muscular Dystrophy - mutation type?

A

frameshift

120
Q

Sickle Cell Disease - mutation type?

121
Q

Promoter sequence

A

TATA & CAAT upstream (RNA pol & TFs bind)

122
Q

RNA pol I

A

makes rRNA (most abundant)

123
Q

RNA pol II

A

makes mRNA (largest)

124
Q

RNA pol III

A

makes tRNA (smallest)

125
Q

alpha-amanitin MOA

A

poison inhibits RNA pol II —> hepatotoxicity

126
Q

Modifications hnRNA —–> mRNA

A
  1. 7-methylguanosine cap on 5’
  2. Polyadenylation tail 3’
  3. Splicing
127
Q

snRNPs

A

bind to hnRNA to form a spliceosome —> lariat-shape —> removal of intron (splicing)

128
Q

anti-SMITH Abs

A

antibodies to spliceosomal snRNPs are specific for SLE

129
Q

anti-U1 RNP Abs

A

specific for mixed connective tissue disease

130
Q

Abnormal splicing

A

abnormal variation to alternative splicing (oncogenesis, b-thalassemia)

131
Q

tRNA 3’ Acceptor stem

A

binds a.a., sequence is CCA

132
Q

T arm of tRNA

A

(thymine, pseudouridine, cytosine) tRNA-ribosome binding

133
Q

D arm of tRNA

A

(dihydrouracil) tRNA- aminoacyl tRNA synthetase

134
Q

Degeneracy of the genetic code

A

3rd wobble position may code for same tRNA/a.a.

135
Q

Post-translational modifications

A

Trimming of N- or C-terminal pro peptides from zymogen, folding, methylation, phosphorylation, glycosylation, hydroxylation, etc

136
Q

Chaperone protein

A

facilitates/maintains protein folding (heat-shock protein in yeast prevents denaturing at high temps)

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