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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
Decreased fertility in males and females Ectopic prgnancy situs inversus
Kartagner syndrome
26
Collagen in bone/tendon
Type one
27
Decreased type one collagen
Osteogenesis imperfect
28
Collagen in cartilage and vitreous humor
Type II collagen
29
Collagen found in blood vessels
Type III
30
Collagen found in basement membrane
Type IV
31
choroidal veins
Osteogenesis Imperfecta
32
berry and aortic aneuyrsms
Ehlers Danlos
33
impaired copper absorption and transport
Wilsons | Menkes
34
defective ATP7A
Menkes
35
Decreased activity of lysol oxidase
Menkes
36
brittle, kinky hair
Menkes
37
defect in fibrin that surrounds elastin
MArfans
38
Karyotyping
metaphase chromosomes are digested with TRYPSIN and stained with GIEMSA
39
Chromosomes that can under go Robertsonian translocation
13,14,15,21,22
40
Chromosomes that can under go Robertsonian translocation
13,14,15,21,22
41
Paternal gene deletion
Prader Willi
42
Maternal gene deletion
Angelmann
43
inappropraite laughter
Angelmann
44
happy puppet
Angelmann
45
hyperphagia
Prader Willi
46
hypogonadism
Prader Willi
47
increased phosphate wasting at proximal tubule
hypophosphatemic rickets
48
APC gene lost
familial adenomatous polyposis
49
atriovenous malformation
Hereditary hemorrhagic telangiectasia
50
branching skin lesions
Hereditary hemorrhagic telangiectasias
51
subluxation of lenses
Marfans
52
Lisch nodules
NF1-pigmented iris hamartomas
53
Lisch nodules
NF1-pigmented iris hamartomas
54
compensatory increase in sodium reabsorption
Cystic fibrosis
55
contraction alkalosis hypokalemia recurring infections
Cystic fibrosis
56
fat soluble vitamin deficiencies
Cystic fibrosis
57
X linked recessive disorders
``` Bruton Wiskott Aldrich Fabry G6PD Ocular albinism Lesch Nyhan Duchenne Becker Hunter Hemophilia A/B Orinithine ```
58
cardiomyopathy common cause death
Duchenne
59
framshift mutation
Duchenne
60
CTG nucleotide repeat
Myotonic type I
61
expansion in DMPK gene
myotonic type I
62
testicular atrophy frontal balding arrhythmia
myotonic type I
63
methylation defect of FMR gene
Fragile X
64
macroorcidism
Fragile X
65
long face with long jaw
Fragile X
66
mitral valve prolapse
Fragile X
67
Genetic defects in Down's
Nondisjunction Robertsonian Mosaicism
68
micrognathia
Edwards (small jaw)
69
Low set ears
Edwards
70
rocker cottom feet
Edwards | Patau
71
PAPP-A and beta HCG decreased
Edwards (first trimester) | Patau (first trimester)
72
decreased alpha feet protein | decreased estriol
Edwards
73
increased nuchal translucency
Patau
74
increased nuchal translucency
Patau
75
holoprosemcephaly
Patau
76
cleft lip/palate
Patau
77
Polydactyly
Patau
78
Chromosome 3
VHL, RCC
79
Chromosome 4
PKD2, Huntington
80
Chromosome 5
Cri du chat, familial adenomatous polyposis
81
Chromosome 7
Williams, cystic fibrosis
82
Chromosome 9
friedrich ataxia
83
Chromosome 11
Wilms tumor
84
Chromosome 13
Patau, Wilsons
85
Chromosome 15
Prader Willi, Angelman
86
Chromosome 16
PKD1
87
Chromosome 17
NF1
88
Chromosome 18
Edwards
89
Chromosome 21
Down
90
Chromosome 22
NF2, Digeorge
91
microdeletion in chromsome 5
cri du chat
92
high pitched crying
cri du chat
93
high pitched crying
cri du chat
94
micro deletion of longer of Ch 7
Williams
95
elfin facies
Williams
96
sensitivity to vit D
Williams
97
extremely friendly with strangers
Williams
98
3rd 4th branchial pouches
Digeorge

STEP ONE FINAL (8 decks)

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