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Step I > cellular biochem and genetics > Flashcards

cellular biochem and genetics Flashcards

1
Q

M phase

A

mitosis and cytokinesis

shortest phase

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2
Q

CDK

A

constitutive

inactive

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3
Q

cyclins

A

phase specific

activate CDKs

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4
Q

cyclin-CDK complex

A

phosphorylate other proteins to coordinate cell cycle progression
must be activated and inactivated at appropriate times for cell cycle to progress

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5
Q

tumor supressors

A

p53
hyophosphorylated Rb
inhibit G1 -> S progression
mutated -> LiFraumeni syndrome

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6
Q

permanent cells

A

remain in G0
regenerate from stem cells
neurons, skeletal and cardiac mm
RBCs

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7
Q

stable/quiescent cells

A

enter G1 when stimulated
hepatocytes
lymphocytes

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8
Q

labile cells

A

never go to G0
divide rapdily w/short G1
most affected by chemo
skin, hair, bone marrow, GI lining, germ cells

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9
Q

RER

A

synthesis of secretory proteins
Nissl bodeis (RER in neurons) synthesis NTs
mucus-secreting goblet cells and AB secreting plasma cells have a lot

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10
Q

Free ribosomes

A

cytosolic and organellar proteins

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11
Q

SER

A

site of steroid synthesis and detox of drugs and poisons
lack surface ribosomes
liver hepatocytes and steroid hormone producing cells

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12
Q

signal recognition particle (SRP)

A

abundant, cytosolic ribonucleoprotein that traffics proteins from the ribosome to the RER
if absent proteins accumulate in cytosole

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13
Q

vesicular trafficking proteins

A

COPI, COPII, Clathrin

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14
Q

COPI

A

golgi -> golgi (retrograde)

cisGolgi -> ER

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15
Q

COPII

A

ER -> cisGolgi (anterograde)

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16
Q

clathrin

A

transGolgi -> lysosomes

plasma membrane -> endosomes

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17
Q

peroxisome

A

catabolism of very long chain fatty acids
brr-chain fatty acids
aa

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18
Q

proteasome

A

barrel-shaped protein complex, degrades damaged or ubiquinated proteins
defects implicated in parkinsons

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19
Q

I-cell disease

A

inclusion cell disease
inherited lysosomal storage disorder
defect in N-acetylglucosaminyl-1-phosphotransferase -> failure of goligi to phosphorylate mannose -> proteins excreted extraceullularly rather then into lysosomes

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20
Q

clinical features of I-cell disease

A 
coarse facial features
clouded corneas
restricted joint mvmt
high plasma levels of lysosomal enzymes
often fatal in childhood
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21
Q

microfiiliments

A

mm crontraction
cytokinesis
actin

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22
Q

intermediate filaments

A 
cell structure 
vimentin
desmin
cytokeratin
lamins
GFAP
neurofilaments
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23
Q

microtubules

A 
mvmt, cell division
cilia
flagella
mitotic spindle
axonal trafficking
centrioles
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24
Q

vimentin stain

A

CT

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25
Q

desMin stain

A

mm

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26
Q

cytokeratin

A

epi

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27
Q

GFAP

A

neuroGlia

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28
Q

neurofiliaments

A

neurons

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29
Q

microtubules anatomy

A

polymerized heterodimers of alpha and beta tubulin

each dimer has 2 GTP bound

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30
Q

dynein

A

retrograde (+ -> -)

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31
Q

kinesin

A

anterograde (- -> +)

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32
Q

drugs that act on microtubules

A 
Microtubules Get Constructed Very Poorly
Mebendazole (anithelminthie)
Griseofulvin (antifungal)
Colchicine (antigout)
Vincristine/Vinblastine (antiCA)
Paclitaxel (antiCA)
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33
Q

Cilia structure

A

9+2 arrangement of microtubule droplets

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34
Q

kartagener syndrom

A 
aka primary ciliary dyskinesia
immotile cilia d/t dynein arm defect
male and female infertility
increased risk for ectopic 
brochiectasis, recurrent sinusitis
situs inversus
ADPCKD
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35
Q

oubain

A

inhbits NA/K ATPase by binding K site

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36
Q

cardiac glycosies

A

digoxin/digitoxin

directly inhibit Na/K ATPase -> indirect inhbition of Na/Ca exchange -> increased Ca -> increased contractility

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37
Q

Collagen

A

Be So Totally Cool, Read Books
I- Bone, skin, tendon (late wound repair)
II- Cartilage (vitreous body, nucleus propulsus)
III- Reticulin, skin, blood vessels, granulation tissue
IV- BM, basal lamina, lens (type IV under the floor-BM)

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38
Q

decreased type I collagen production

A

osteogenesis imperfecta type I

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39
Q

vascular type of Ethers Danlos

A

uncommon

type III deficient

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40
Q

alport syndrome

A

type IV defective

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41
Q

collagen synthesis inside fibroblast

A

synthesis in RER -> preprocollagen
hydroxylation in RER (requires Vit C)
glycosylation in RER -> precollagen (osteogenesis imperfecta)
exocytosis

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42
Q

collagen synthesis outside fibroblast

A

proteolytic- cleavage of disulfide rich terminal regions -> tropocollagen
cross linking -> requires Cu (Menkes disease, ED)

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43
Q

osteogenesis imperfecta

A

brittle bone disease
most common AD
decreased production of normal type I collagen
fracture, blue sclera, hearing loss, fental imperfections

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44
Q

Ethers Danlos

A

AD or AR

associated w/joint dislocaton, berry/aortic aneurysms, organ rupture

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45
Q

types of ED

A
  • hypermobility type, most common, joint instability
  • classical type mutation in type V collagen, joint and skin
  • vascular type deficient type III collagen, vascular and organ rupture
46
Q

menkes disease

A 
XR
impaired Cu absorption and transport 
defective menkes protein (ATP7A)
decreased lysyl oxidase activity 
brittle, kinky hair, growth retardation, hypotonia
47
Q

Elastin

A

rick in nonhydroxylated proline, glycine, and lysine

broken down by elastase which is normally inhibited by alpha 1 anti-trypsin

48
Q

marfans

A

misfolded fibrillin-1

glycoprotein that forms sheath around elastin

49
Q

Blotting procedures

A

SNoW DRoP
Southern = DNA
Northern = RNA
Western = protein

50
Q

locus heterogenity

A

mutations at different loci can produce same phenotype

albinism

51
Q

allelic heterogenity

A

different mutations in same locus produce same phenotype

beta thalassemia

52
Q

heteroplasmy

A

presence of both normal and mutated mtDNA

variable expression in mitochondrially inherited diseases

53
Q

prader-willi

A

maternal imprinting (moms usually silent) Paternal deleted
hyperphagia, obesity, retardation. hypogonadism, and hypotonia
25% d/t maternal uniparental disomy

54
Q

angleman

A 
paternal impriting (dads usually silent) maternal deleted
inappropriate laughter, seizures, ataxia, severe intellecutual disability 
5% d/t paternal uniparental disomy
55
Q

mitochondrial myopathies

A

rare disorder often presents w/myopathy, lactic acidosis, and CNS disease
secondary to failure in ox phos
mm Bx- ragged red fibers

56
Q

ADPKD

A

85% d/t mutation in PKD1, chrom 16 (16 letters in polycystic kidney)
15% d/t mutation in PKD2 (chrom 4)

57
Q

familial adenomatous polyposis inheritance?

A

AD

58
Q

familial hypercholesterolemia inheritance?

A

AD

59
Q

albinism inheritance?

A

AR

60
Q

hereditary hemorrhagic telangiectasia inheritance?

A

AD

61
Q

cystic fibrosis inheritance?

A

AR

62
Q

glycogen storage diseases inheritance?

A

AR

63
Q

hemochromatosis inheritance?

A

AR

64
Q

hereditary sphrocytosis inheritance?

A

AD

65
Q

Huntingtons inheritance?

A

AD

66
Q

Kartagener syndrome inheritance?

A

AR

67
Q

LiFraumeni syndrome inheritance?

A

AD

68
Q

Marfan’s syndrome inheritance?

A

AD

69
Q

multiple endocrine neoplasia (MEN) inheritance?

A

AD

70
Q

NF1 inheritance?

A

AD

71
Q

mucopolusaccharidoses inheritance?

A

AR

72
Q

phenylketonuria inheritance?

A

AR

73
Q

NF2 inheritance?

A

AD

74
Q

sickle cell inheritance?

A

AR

75
Q

sphingolipidoses inheritance?

A

AR (except Fabry’s)

76
Q

Tuberous sclerosis inheritance?

A

AD

77
Q

thalasemias inheritance?

A

AR

78
Q

VHL disease inheritance?

A

AD

79
Q

Wilson’s disease inheritance?

A

AR

80
Q

Familial adenomatous polyposis

A

AD
colon becomes covered w/adenomatous polyps after puberty
progresses to colon CA unless colon resected
mutations on chrom 5 (5 letters in polyp) APC gene

81
Q

familial hypercholesterolemia

A 
AD
elevated LDL d/t defective or absent LDL Rs
tendon xanthomas (classically in achilles), corneal arcus
82
Q

hereditary hemorrhagic telangiectadsia

A

AD
aka Osler-Weber-Rendu sndrome
telangiectasia, epistaxis, skin disocoloration, AVMs, GI bleds, hematuria

83
Q

hereditary spheocytsis

A 
AD
spheroid RBCs, d/t spectin or ankyrin defect
hemolytic ane ia
increased MCHC, RDW
Tx splenectomy
84
Q

huntingtons

A

AD
increased DA, decreased GABA and ACh
gene on chrom 4 (hunting For 4 food)
CAG repeats, anticipation

85
Q

Li-Fraumeni syndrome

A

AD
mutated TP53 -> multiple CAs at young age
aka SBLA CA syndrome b/c get sarcomas, breast, leukemia, and adrenal gland CA)

86
Q

Marfan’s

A

AD
FBN1 gene mutation on chrom 15 -> defective fibrillin-1 (scaffold for elastin)
tall w/long extremities, pectus excavatum, hypermobile joints, arachnodactyl
cystic medial necrosis of aorta -> aortic aneurysm
Floppy mitral valve
subluxation of lenses

87
Q

MEN 1

A 
AD
pancreatic (gastinomas, insulinomas)
pituitary
parathyroid
MEN1 gene
88
Q

MEN 2A

A 
AD
parathyroid
pheochromocytoma
thyroid 
RET gene
89
Q

MEN 2B

A 
AD
pheochromocytoma
thyroid 
mucosal neuromas
marfanoid body habitus
RET gene
90
Q

NF1

A 
AD, 100% penetrance, variable expression
aka von Recklinghausen
cafe-au-laits spots
cutaneous neurofibromas
optic gliomas
pherochromocytomas
Lisch nodules (pigmented iris hamartomas)
NF1 gene on chrom 17 (17 letters in von Recklinghausen)
91
Q

NF2

A 
AD
b/l acoustic schwannomas
juvenile cataracts
mengingiomas
ependymomas
NF2 gene on chrom 22
92
Q

Tuberous sclerosis

A 
Dx Triad:
-Angiofibromas on face
-Metal delays
-Seizures 
a lot get cardiac rhadomyomas
TSC1- hamertin
TSC2- tuberin 
Ash leaf patch-shine woodslamp (UVA) -> fluoresces 
AD, incomplete penetrance, variable expression
93
Q

VHL

A

numerous tumors, both benign and malignant

deletion of VHL gene on chrom 3

94
Q

CF

A

CFTR on chrom 7
most common mutation -> misfolded protein -> decreased CL and H20 secretion
N-acetylcystein loosen mucus plugs

95
Q

x-linked recessive disorders

A 
Be Wise Fool's GOLD Heeds Silly HOpe
Bruton agammaglobulinemia
Wischott-aldrich syndrome
Fabry's
G6PD deficiency
Ocular albinism
Lesch-Nyhan syndrome
Duchenne and becker mm dystrophy
Hunter Syndrome
Hemophillia A and B
Ornithine transcarbamylase deficieny
96
Q

Duchenne

A

x-linked d/t frameshift
truncated dystrophin
weakness begins in pelvic girdle mm and progresses superiorly
psuedohypertrophy of calf mm d/t fibrofatty replacement of mm
Gower maneuver to stand
waddling gait
onset

97
Q

Becker

A

x-linked d/t non-frameshift insertions
partially functional
less severe then duchennes
onset in adolescene or early adulthood

98
Q

mytonic mm dystrophy type 1

A

AD
CTG repeat in DMPK gene
myotonia, mm wasting, cataracts, testicular atrophy, frontal balding, arrhythmia
My Tonia, My Testicles, My Toupee, My Ticker

99
Q

Fragile X-syndrome

A

x-linked, CGG repeat
affecting methylation and expression of FMR1 gene
2nd MCC of genetic intellectual disability (downs first)
post-pubertal macroorchidism
long face w/large jaw
large ecerted ears
autism
MV prolapse
Fragile X = eXtra large testes, jaw, and ears

100
Q

trinucleotide repeat expansions

A 
Try hunting for my fried eggs (X)
huntingtons
myotonic dystropy
friedreich ataxia
fragile X syndrome
101
Q

down syndrome associations

A 
gap btwn 1st 2 toes
duodenal atresia
hirschsprugs
congenital heart disease (ASD)
Brushfield spots
early onset alxhemiers 
ALL and AML
102
Q

down syndrome 1st trimester ultrasound

A

increased nuchal translucency and hypoplastic nasal bone
serum PAPP-A is decreased
free B-hCG increased

103
Q

down syndrome 2nd trimester quad screen

A

decreaed alpha-fetoprotein
increased beta-hCG
decreased estriol
increased inhibin A

104
Q

Edwards syndrome

A 
trisomy 18
severe intellectual disability
rocker-bottom feet
low-set ears
celnced hands w/overlapping fingers
prominent occiput
congenital heart disease
death w/in 1 yr
105
Q

edwards 1st triemster

A

PAPP-A and free beta-hCG decreased

106
Q

edwards quad screen

A

decreased alpha-fetoprotein
decreased beta-hCG
decreased estriol
decreased or normal inhibin A

107
Q

Patau syndrome

A 
severe intellectual disability 
rocker bottom feet
microphthalmia
microencephaly
cleft lip/palate
holoprosencephaly
polydactyly 
congenital heart disease
cutis aplasia
death w/in 1 yr
108
Q

patau first trimester

A

decreased beta-hCG
decreased PAPP-A
increased nuchal translucency

109
Q

Cri-du-Chat syndrome

A

congenital microdeletion of short arm of chrom 5 microcephaly
moderate to severe intellectual disabiliyt
high pitched crying/mewing
epicanthal folds
VSD

110
Q

williams syndrome

A 
microdeletion of long arm of chrom 7
distinctive elfin facies
intellectual disability 
hypercalcemia
well developed verbal skills, extreme friendliness w/strangers
CV problems
111
Q

DiGeorge

A 
22q11 deletions
CATCH-22
Cleft palate
abnormal facies
thymic aplasia
cleft palate
hypocalcemia (secondary to parathyroid aplasia)
velocardiofacial syndrome- only palate, facial, and cardiac

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