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STEP ONE FINAL > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

Prevalent AAs in histones

A

lysine

arginine

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2
Q

DNA and Histone methylation effect

A

suppresses DNA transcirption

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3
Q

Histone Acetylation

A

Increase DNA transcription

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4
Q

feedback inhibition of ribonucleotide reductase because of excess ATP

A

Adenosine deaminase deficiency (SCID)

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5
Q

absent HGPRT leads to excess uric acid and de novo purine synthesis

A

Lesch Nyhan syndrome

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6
Q

Lesch Nyhan syndrome

A

Hyperuricemia

Self mutilation with gout

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7
Q

5’–>3’ exonuclease activity

A

DNA polymerase I

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8
Q

defective nucleotide excision repair

A

xeroderma pigmentosa

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9
Q

AP endonuclease

A

base excision repair

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10
Q

defective mismatch repair

A

Lynch syndrome HNPCC

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11
Q

defective non homologous end joining

A

ataxia telangiextasia

Fanconi anemia

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12
Q

Stop codons

A

UGA
UAA
UAG

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13
Q

alpha amanitin

A

RNA pol 2 inhibitor

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14
Q

defective gene splicing

A

beta thalassemia

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15
Q

Nissl bodies

A

RER in neurons

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16
Q

mannose-6-phosphate tag

A

trafficking to lysosomes

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17
Q

defect in N acetylglucosaminyl-1-phosphotransferase

A

I cell disease

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18
Q

proteins aberrantly secreted instead of going to lysosome

A

I cell disease

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19
Q

coarse facial features
clouded corneas
restricted joint mvmc
high plasma levels of lysosomal enzymes

A

I cell disease

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20
Q

coarse facial features
clouded corneas
restricted joint mvmc
high plasma levels of lysosomal enzymes

A

I cell disease

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21
Q

catabolism of very long chain fatty acids

A

peroxisome

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22
Q

catabolism of very long chain fatty acids

A

peroxisome

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23
Q

Drugs that inhibit microtubules

A 
Mebendazole
Grisofulvin
Colchicine
Vincristine
Paclitaxel
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24
Q

immuotile cilia due to dyne arm defect

A

Kartagner syndrome

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25
Q

Decreased fertility in males and females
Ectopic prgnancy
situs inversus

A

Kartagner syndrome

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26
Q

Collagen in bone/tendon

A

Type one

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27
Q

Decreased type one collagen

A

Osteogenesis imperfect

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28
Q

Collagen in cartilage and vitreous humor

A

Type II collagen

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29
Q

Collagen found in blood vessels

A

Type III

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30
Q

Collagen found in basement membrane

A

Type IV

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31
Q

choroidal veins

A

Osteogenesis Imperfecta

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32
Q

berry and aortic aneuyrsms

A

Ehlers Danlos

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33
Q

impaired copper absorption and transport

A

Wilsons

Menkes

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34
Q

defective ATP7A

A

Menkes

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35
Q

Decreased activity of lysol oxidase

A

Menkes

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36
Q

brittle, kinky hair

A

Menkes

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37
Q

defect in fibrin that surrounds elastin

A

MArfans

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38
Q

Karyotyping

A

metaphase chromosomes are digested with TRYPSIN and stained with GIEMSA

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39
Q

Chromosomes that can under go Robertsonian translocation

A

13,14,15,21,22

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40
Q

Chromosomes that can under go Robertsonian translocation

A

13,14,15,21,22

41
Q

Paternal gene deletion

A

Prader Willi

42
Q

Maternal gene deletion

A

Angelmann

43
Q

inappropraite laughter

A

Angelmann

44
Q

happy puppet

A

Angelmann

45
Q

hyperphagia

A

Prader Willi

46
Q

hypogonadism

A

Prader Willi

47
Q

increased phosphate wasting at proximal tubule

A

hypophosphatemic rickets

48
Q

APC gene lost

A

familial adenomatous polyposis

49
Q

atriovenous malformation

A

Hereditary hemorrhagic telangiectasia

50
Q

branching skin lesions

A

Hereditary hemorrhagic telangiectasias

51
Q

subluxation of lenses

A

Marfans

52
Q

Lisch nodules

A

NF1-pigmented iris hamartomas

53
Q

Lisch nodules

A

NF1-pigmented iris hamartomas

54
Q

compensatory increase in sodium reabsorption

A

Cystic fibrosis

55
Q

contraction alkalosis
hypokalemia
recurring infections

A

Cystic fibrosis

56
Q

fat soluble vitamin deficiencies

A

Cystic fibrosis

57
Q

X linked recessive disorders

A 
Bruton
Wiskott Aldrich
Fabry
G6PD
Ocular albinism
Lesch Nyhan
Duchenne
Becker
Hunter
Hemophilia A/B
Orinithine
58
Q

cardiomyopathy common cause death

A

Duchenne

59
Q

framshift mutation

A

Duchenne

60
Q

CTG nucleotide repeat

A

Myotonic type I

61
Q

expansion in DMPK gene

A

myotonic type I

62
Q

testicular atrophy
frontal balding
arrhythmia

A

myotonic type I

63
Q

methylation defect of FMR gene

A

Fragile X

64
Q

macroorcidism

A

Fragile X

65
Q

long face with long jaw

A

Fragile X

66
Q

mitral valve prolapse

A

Fragile X

67
Q

Genetic defects in Down’s

A

Nondisjunction
Robertsonian
Mosaicism

68
Q

micrognathia

A

Edwards (small jaw)

69
Q

Low set ears

A

Edwards

70
Q

rocker cottom feet

A

Edwards

Patau

71
Q

PAPP-A and beta HCG decreased

A

Edwards (first trimester)

Patau (first trimester)

72
Q

decreased alpha feet protein

decreased estriol

A

Edwards

73
Q

increased nuchal translucency

A

Patau

74
Q

increased nuchal translucency

A

Patau

75
Q

holoprosemcephaly

A

Patau

76
Q

cleft lip/palate

A

Patau

77
Q

Polydactyly

A

Patau

78
Q

Chromosome 3

A

VHL, RCC

79
Q

Chromosome 4

A

PKD2, Huntington

80
Q

Chromosome 5

A

Cri du chat, familial adenomatous polyposis

81
Q

Chromosome 7

A

Williams, cystic fibrosis

82
Q

Chromosome 9

A

friedrich ataxia

83
Q

Chromosome 11

A

Wilms tumor

84
Q

Chromosome 13

A

Patau, Wilsons

85
Q

Chromosome 15

A

Prader Willi, Angelman

86
Q

Chromosome 16

A

PKD1

87
Q

Chromosome 17

A

NF1

88
Q

Chromosome 18

A

Edwards

89
Q

Chromosome 21

A

Down

90
Q

Chromosome 22

A

NF2, Digeorge

91
Q

microdeletion in chromsome 5

A

cri du chat

92
Q

high pitched crying

A

cri du chat

93
Q

high pitched crying

A

cri du chat

94
Q

micro deletion of longer of Ch 7

A

Williams

95
Q

elfin facies

A

Williams

96
Q

sensitivity to vit D

A

Williams

97
Q

extremely friendly with strangers

A

Williams

98
Q

3rd 4th branchial pouches

A

Digeorge

STEP ONE FINAL (8 decks)

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