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Step Random Tidbits > First Aid 54-77 > Flashcards

First Aid 54-77 Flashcards

1
Q

Promoter mutation results in

A

dramatically lower level of gene transcription

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2
Q

alpha-amanitin

A

toxin in death cap mushrooms
inhibits RNA Pol II
severe hepatotoxicity

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3
Q

MOA Rifampin

A

inhibits RNA Pol in prokaryotes

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4
Q

MOA Actinomycin D

A

inhibits RNA Pol in both prokaryotes and eukaryotes

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5
Q

What is the function of P bodies

A

in cytoplasm
for quality control
exonucleases, microRNAs, decapping enzymes
can store mRNA there for future use

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6
Q

Smith and U1 RNP, whose antibodies are associated with SLE and MCTD, respectively, function normally as

A

part of the spliceosome

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7
Q

An example of a condition thought to be due to an abnormal splicing variant

A

beta-thalassemia

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8
Q

What end of tRNA binds the aa?

A

3’ CCA

Can Carry Amino acids

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9
Q

Function of aminoacyl-tRNA snythetase

A

“matchmaker”
makes sure the right aa is being chosen
1 per aa
uses ATP to charge tRNA

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10
Q

A site

A

aminoacyl -tRNA binds to A site

rRNA ribozyme catalyzes peptide bond formation to add polypeptide to aa in A site

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11
Q

P site

A

ribosome advances 3 nucleotides toward 3’ end of mRNA, moving peptidyl tRNA to P site (translocation
P site accomodates growing peptide

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12
Q

E site

A

holds empty tRNA as it exits

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13
Q

Regulatory proteins that control cell cycle events, activate CDKs

A

cyclins

become cyclin-CDK complexes which phosphorylate other proteins to coordinate cell cycle progression

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14
Q

function of p21

A

induced by p53
inhibits CDKs –> hypophosphorylation (activation) of Rb
Active Rb binds and inactivated TF EF2 –> inhibition of G1–>S

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15
Q

Give two examples of stable cell lines, that can enter G1 from G0 if stimulated

A

Hepatocytes

Lymphocytes

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16
Q

Where does N-linked oligosaccharide addition to proteins occur?

A

RER

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17
Q

The golgi complex modifies N-oligosaccharides on:

A

asparagiNe

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18
Q

The golgi comples modifies O-oligosaccharides on

A

serine and threOnine

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19
Q

What does the mannose-6-phosphate tag mean?

A

Trafficking from golgi to lysosomes

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20
Q

Defect in I cell disease (aka mucolipidosis type II)

A

defect in N-acetylglucosaminyl-1-phosphotransferase
–> failure of golgi to phosphorylate mannose residues
–> proteins that should be degraded are instead secreted
coarse facial features, restriced joint movement, high plasma levels of lysosomal enzymes

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21
Q

COPI

A

vesicular trafficking protein
golgi–golgi
cis-golgi–RER
retrograde

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22
Q

COPI II

A

vesicular trafficking protein
ER–cis golgi
anterograde

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23
Q

Defects in the ubiquitin-proteasome pathway have been implicated in some cases of

A

Parkinson disease

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24
Q

Function of peroxisome

A

catabolism of very long chain FA (through beta-oxidation), branched chain FA, amino acids, ethanol

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25
Q

Actin and microvilli are made of

A

microfilaments

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26
Q

vimentin, desmin, cytokeratin, lamins, glial fibrillary acid proteins (GFAPs), neurofilaments
all made of

A

intermediate filaments

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27
Q

Immunohistochemical stain for vimentin (IF) identifies

A

mesenchymal tissue
ie fibroblasts, endothelial cells, macrophages
sarcomas, RCC, endometrial carcinoma, meningioma

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28
Q

Desmin (IF) stains for

A

muscle

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29
Q

Immunohistochemical stain for epithelium

A

cytokeratin (IF)

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30
Q

“Microtubules Get Constructed Very Poorly”

A 
Drugs that act on Microtubules
Mebendazole (antihelminth)
Griseofulvin (antifungal)
Colchicine (antigout)
Vincristine/Vinblastine (anticancer)
Paclitaxel (anticancer)
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31
Q

Defect in primary ciliary dyskinesia

A

aka Kartagener syndrome
dynein arm defect –> immotile cilia
bronchiectasis, recurrent sinusitis, ectopic pregnancy, infertility

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32
Q

Where does ouabain bind?

A

K+ site (extracellular)

inhibits Na/K ATPase

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33
Q

Digoxin directly inhibits

A

Na/K ATPase –> indirect inhibition of the Na/Ca exchange –> Ca increased –> cardiac contractility increased

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34
Q

Type I collagen, where is it found besides bone?

A 
skin
tendon
dentin
fascia
cornea
late wound repair
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35
Q

The vitreous body contains what kind of collagen?

A

type II

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36
Q

Collagen type found in:
reticulin
skin, blood vessels, uterus, fetal tissue, granulation tissue

A

type III

defective in vascular type of Ehlers-Danlos (3-ED)

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37
Q

type IV collagen found where?

A

BM, basal lamina, lens
defective in Alport syndrome
targeted by autoantibodies in Goodpasture syndrome

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38
Q

Collagen is 1/3 made of

A

glycine

Gly-X-Y-Gly-X-Y…

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39
Q

Problems forming the triple helix in collagen synthesis (glycosylation step)

A

Osteogenesis imperfecta

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40
Q

Diseases with problems collagen cross-linking

A

Menkes disease

Ehlers-Danlos

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41
Q

Gene defects in COL1A1 and COL1A2

A

Osteogenesis imperfecta

most common type is AD with reduced production of normal type I collagen

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42
Q

X-linked recessive disease
impaired Copper absorption and transport
defective ATP7A gene

A

Menkes disease
reduced activity of lysyl oxidase
kinky, brittle hair, growth retardation, hypotonia

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43
Q

Complications seen in Ehlers-Danlos

A

organ rupture
berry and aortic aneurysms
joint dislocation

44
Q

connections between vertebrae are called

A

ligamenta flava

45
Q

Why use a Northern blot?

A

Useful for studying mRNA levels which reflect gene expression

46
Q

Test that identifies DNA-binding proteins ie TFs using labeled oligonucleotide probes

A

Southwestern blot

47
Q

How is a CD4 count performed?

A

Flow cytometry

48
Q

Immunologic test to detect either specific antigen or antibody in a patient’s blood sample

A

ELISA

49
Q

Test used for specific localization of genes and direct visualization of chromosomal anomalies at the molecular level, ie microdeletions, duplications, translocations

A

FISH

50
Q

Phenotype varies among individuals with the same genotype

A

Variable expressivity

51
Q

Not all individuals with a mutant genotype show the mutant phenotype

A

Incomplete penetrance

52
Q

One gene contributes to multiple phenotypic effects

A 
Pleiotropy
ie PKU (light skin, intellectual disability, musty body odor)
53
Q

A heterozygote produced a nonfunctional protein that inhibits the normal gene product from functioning

A

Dominant negative mutation

54
Q

An example of mosaicism

A

McCune-Albright syndrome
defective G-protein signaling
unilateral cafe-au-lait spots, precocious puberty, polyostotic fibrous dysplasia, multiple endocrine abnormalities

55
Q

Mutations at different loci can produce a similar phenotype

A

Locus heterogeneity

ie albinism

56
Q

Different mutations at the same locus produce a similar phenotype

A

Allelic heterogeneity

ie beta-thalassemia

57
Q

Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease

A

Heteroplasmy

58
Q

An individual can inherit an AR disorder from one parent through

A

Uniparental disomy

59
Q

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

A 
p^2 = frequency of homozygosity for allele p
q^2 = frequency of homozygosity for allele q
2pq = frequency of heterozygotes
p+q = 1
60
Q

Using Hardy-Weinberg, the frequency of an X linked recessive disease in males and females is:

A 
q = males
q^2 = females
61
Q

How does imprinting work in Prader-Willi syndrome?

A

Gene from mom silent, gene from dad is mutated or deleted
or
No genes from dad, both from mom maternally imprinted (uniparental disomy)
**opposite for Angelman syndrome, but both on chrom 15

62
Q

In AD diseases, with one heterozygous parent, about how many children affected?

A

1/2

63
Q

X-linked recessive means

A

Sons of heterozygous mothers have a 50% chance of being affected;
skips generations;
no male–>male inheritance possible

64
Q

X-linked dominant means

A

transmitted through both parents
dad transmits to all daughters but no sons
mom transmits to half of her children

65
Q 
Alport syndrome
fragile X syndrome
Rett syndrome
hypophosphatemic rickets
all what inheritance?
A

X-linked (dominant)

66
Q

X-linked
increased phosphate wasting in PCT
rickets-like presentation

A

hypophosphatemic rickets

67
Q

Muscl biopsy showing ragged red fibers

A

MELAS syndrome - Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes
failure in oxidative phosphorylation
mitochondrial inheritance

68
Q

Mutation in fibroblast growth factor receptor 3

A

Achondroplasia
Inhibits chondrocyte proliferation
most common cause of dwarfism
AD

69
Q

PKD2

A

chromosome 4
second most common mutation in Autosomal dominant polycystic kidney disease
AD

70
Q

5 letters on polyp, think

A

FAP
chrom 5
progresses to colon cancer if colon not resected
AD

71
Q

Autosomal dominant disorder to blood vessels

A 
Heredity hemorrhagic telangectasia aka Osler-Weber-Rendu
recurrent episxtaxis
skin discolorations
AV malformations
GI bleeds
Hematuria
72
Q

severe atherosclerotic disease early in life
corneal arcus
tendon xanthomas
mutation in or absence of:

A

LDL receptor

Familial hypercholesterolemia
AD

73
Q

Inheritance of hereditary spherocytosis

A

AD

74
Q

Caudate atrophy in HD (chrom 4) results in what changes to these chemicals:
dopamine
GABA
ACh

A

dopamine up
GABA down
ACh down
AD

75
Q

SBLA cancer syndrome aka

A

Li Fraumeni syndrome
TP53 abnormalities
sarcoma, breast, leukemia, adrenal gland
AD

76
Q

Fibrillin is the scaffold for

A

Elastin
chrom 15
Marfan syndrome
AD

77
Q

MEN 2A and 2B are associated with the RET proto-oncogene whereas MEN 1 is associated with

A

MEN1 gene

AD

78
Q

juvenile cataracts
meningiomas
ependymomas
what syndrome?

A

Neurofibromatosis type 2
also acoustic schwannomas
NF2 gene on chrom 22
AD

79
Q

syndrome with optic gliomas and pheochromocytomas

A 
Neurofibromatosis type 1
Lisch nodules
cafe-au-lait spots
cutaneous neurofibromas
NF1 gene on chrom 17
80
Q

What test screens newborns for CF?

A

Trypsinogen screening

81
Q

What CF pattern is seen on CXR?

A

Reticulonodular pattern

82
Q

How is infertility in men conferred in CF?

A

Absence of vas deferens

83
Q

“Oblivious Females Will Often Give Her Boys Her x-Linked Disorders”

A 
Ornithine transcarbamylase deficiency
Fabry disease
Wiskott-Aldrich syndrome
Ocular albinism
G6PD deficiency
Hunter syndrome
Bruton agammaglobulinemia
Hemophilia A and B
Lesch-Nyhan sndrome
Duchenne (and Becker) MD
84
Q

Pseudohypertrophy of calf muscles in MD due to

A

fibrofatty replacement of muscle

85
Q

Function of dystrophin

A

Anchoring or muscle fibers
frameshift mutation most common
***non-frameshift –> Becker

86
Q

AD
CTG trinucleotide repeat expansion in DMPK gene
symptoms?

A

Myotonic type 1 MD

cataracts, muscle wasting, frontal balding, testicular atrophy, arrhthmia

“My Tonia, My testicles, My Toupee, My Ticker”

87
Q

Trinucleotide repeat results in hypermethylation of FMR1 gene –> gene inactivation
symptoms?

A

Fragile X syndrome

2nd most common genetic intellectual disability after Down syndrome

macroorchidism, long face, large jaw, large ears, MVP, autism

88
Q

Trinucleotide expansion of CAG

A

Huntington disease

89
Q

Trinucleotide expansion of CTG

A

Myotonic dystrophy

90
Q

Trinucleotide expansion of GAA

A

Friederich ataxia (chrom 9)

91
Q

gap between 1st two toes
duodenal atresia
Brushfield spots

A

Down syndrome

chrom 21 codes for APP
increased risk for ALL and AML
meiotic I nondisjunction most common cause

92
Q

Ist trimester ultrasound shows increased nuchal translucency, hypoplastic nasal bone

A

Down syndrome
PAPP-A down
free beta HCG up

93
Q

Second trimester quad screen shows increased inhibin A, decreased estriol

A

Down syndrome

94
Q

First trimester shows low PAPP-A and beta-HCG

A

Both Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13)

95
Q 
cleft lip/palate
rocker bottom feet
holoprosenecephaly
congenital HD
cutis aplasia
micropthalmia
microcephaly
A

Patau syndrome

trisomy 13

96
Q 
rocker bottom feet
prominent occiput
clenched hands and overlapping fingers
congenital heart disease
rocker bottom feet
small jaw (micrognathia)
A

Edwards syndrome

trisomy 18

97
Q

Mineral oil intake can cause

A

fat soluble vitamin deficiencies

98
Q

Pantothenic Acid, used in the body as

comes from

A

Vitamin B5

CoA

99
Q

Biotin, aka

A

Vitamin B7

100
Q

Folate, aka

A

Vitamin B9

stored in liver for 3-4 months

101
Q

Pseudotumor cerebri - vitamin cause

A

Vitamin A excess

102
Q

Bitot spots on conjunctiva (white plaques)

Immunosuppression

A

Vitamin A deficiency

103
Q

How to diagnose Beriberi

A

increase in RBC transketolase (HMP Shunt) activity following B1 administration

104
Q 
Pyruvate dehydrogenase (link between glycolysis and TCA);
alpha-ketoglutarate dehydrogenase (TCA);
Transketolase (HMP Shunt);
Branched chain ketoacid dehydrogenase
All require:
A 
TPP Cofactor
From thiamine (B1)
105
Q

Confusion
Ophthalmoplegia
Ataxia
damage to what part of the brain?

A

Common triad of Wernicke-Korsakoff

mamillary bodies, medial dorsal nucleus of thalamus

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