Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

First Aid > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

What two amino acids are histones rich in?

A

lysine and arginine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What type of islands does DNA become methylated at?

A

CpG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What DNA base has a methyl group?

A

thymine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Uracil is a deaminated form of what base?

A

cytosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What three amino acids are necessary for purine synthesis?

A

Glycine, Aspartate and Glutamine (GAG)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

S in Nucleoside = ?

A

base + Sugar

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

T in Nucleotide = ?

A

base + phosphaTe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What amino acid does pyrimidine biosynthesis begin with? What enzyme acts on it?

A

Glutamine

CPS Two

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What amino acid joins orotic acid? What drug inhibits this rxn?

A

aspartate

Leflunomide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What enzyme does Leflunomide inhibit?

A

dihydroorotate Dehydrogenase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What enzyme does hydroxyurea inhibit?

A

Ribonucleotide Reductase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What enzyme does 5-FU inhibit? What end-product has an inhibition of production?

A

thymidylate synthase

dTMP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

IMP Dehydrogenase is involved in the RLS of what nucleotide?

A

GTP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What enzyme does 6-MP inhibit? What is the pro-drug of 6-MP?

A

HGPRTase

azathioprine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What product are all purines synthesized from? What enzyme works on this product?

A

Ribose-5-Phosphate

PRPP Synthetase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the prodrug of 6-MP?

A

azathioprine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What three drugs inhibit dihydrofolate reductase?

A

Trimethoprim, Methotrexate and Pyrimethamine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What rxn does dihydrofolate reductase catalyze?

A

DHF to THF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What rxn does ADA catalyze?

A

deamination of adenosine into inosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is the co-factor for HGPRTase?

A

PRPP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What two rxns does xanthine oxidase catalyze?

A
  1. hypoxanthine to xanthine

2. xanthine to uric acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What enzyme becomes inhibited during ADA Deficiency?

A

ribonucleotide reductase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Under the action of HGPRTase, what is hypoxanthine converted into?

A

IMP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Under the action of HGPRTase, what is guanine converted into?

A

GMP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What codon codes for methionine?

A

AUG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What codon codes for tryptophan?

A

UGG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What are the only two amino acids coded for by a single codon?

A

methionine and tryptophan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What drug inhibits prokaryotic Topoisomerase Type II?

A

fluoroquinolones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What two DNA polymerases are unique to prokaryotes?

A

Type III and Type I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

In which direction does DNA pol III add nucleotides?

A

5’ to 3’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

In which direction does DNA pol III proofread (Exonuclease Activity)?

A

3’ to 5’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What are the two functions of prokaryotic DNA Pol I?

A

remove RNA primers and replaces it with DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is a transition mutation?

A

purine to purine or pyr. to pyr.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is a transversion mutation?

A

purine to pyr. or pyr. to purine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What DNA replication pathway is defective during xeroderma pigmentosum?

A

nucleotide excision repair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What end does DNA endonuclease cleave?

A

5’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What end does DNA lyase cleave?

A

3’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What DNA repair mechanism is faulty in HNPCC?

A

mismatch repair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What DNA repair mechanism is faulty in ataxia telangiectasia?

A

non-homologous end joining

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What position of DNA is the hydroxyl group located?

A

3’ end

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What binds at the promoter?

A

RNA polymerase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What binds the enhancer?

A

Tx Factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What binds at the silencer?

A

negative repressors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What enzyme does α-aminitin inhibit?

A

RNA pol II

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What does eukaryotic RNA pol I synthesize?

A

rRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What does eukaryotic RNA pol II synthesize?

A

mRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What does eukaryotic RNA pol III synthesize?

A

tRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What three processes are done to mRNA before it leaves the nucleus?

A

capped, tailed and spliced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Is the 5’ or 3’ end of mRNA capped? What molecule is used as a cap?

A

5’

7-methylguanosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Is the 5’ or 3’ end of mRNA polyadenylated?

A

3’ = polyA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Where in the cell does translation occur?

A

cytosol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What is the six nucleotide polyadenylation signal?

A

AAUAAA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What are snRNPs involved with?

A

formation of spliceosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

anti-Smith antibodies target what? What disease?

A

snRNP’s

SLE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Anti-U1 RNP’s are highly indicative of what disease?

A

mixed connective tissue disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Is the CCA of tRNA on the 3’ or 5’ end?

A

3’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What is the function of the T-Arm of tRNA? What three bases are carried on the T-arm of tRNA?

A

to bind tRNA ribosome

Thymine/pseudouridine/Cytosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

The D-arm of tRNA contains what base? What is the function of this base?

A

dihydrouracil

binding of correct aminoacyl-tRNA synthetase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Is the CCA of tRNA on the 3’ or 5’ end?

A

3’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What does aminoacyl tRNA synthetase use for energy?

A

ATP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What ribosomes make up the eukaryotic ribosome?

A

40S and 60S

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What ribosomes make up the prokaryotic ribosome?

A

30S and 50S

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

What is the energy source for the intitiation of protein synthesis?

A

GTP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What does the A site of the ribosome hold?

A

A-mino acyl tRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What amino acid charged tRNA does not bind to the A site?

A

methionine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What is the function of rRNA?

A

catalyze peptide bond

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

What does ‘A’ of APE stand for according to translation?

A

accodomates incoming amino-acyl tRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What does ‘P’ of APE stand for according to translation?

A

acomodates growing Peptide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What does ‘E’ of APE stand for according to translation?

A

holds Empty tRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What are the three stop codons?

A

UAG, UAA, UGA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What are the two stable (quiescent) cell types?

A

hepatocytes and lymphocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

What organelle do Nissl bodies function as?

A

rER

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

What cell type are Nissl bodies found in?

A

Neurons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

What two activities occur at the smooth ER?

A

steroid synthesis

drug detoxification

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

N-linked glycosylation occurs on what amino acid?

A

asparagine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

O-linked glycosylation occurs on what amino acid?

A

serine and threonine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

What monosaccharide is added to proteins for them to be trafficked to what organelle?

A

mannose-6-phosphate

lysosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

What is defective in I-cell disease? Which organelle is responsible for the error?

A

phosphorylation of mannose residues

golgi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

Does COP-I traffic anterograde or retrograde?

A

retrograde

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

Does COP-II traffic anterograde or retrograde?

A

anterograde

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

What two types of fatty acids are processed in the peroxisome?

A

very long chain and branched chain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

What heterodimer makes up microtubules? What molecule do microtubules use for energy?

A

α-tubulin and β-tubulin

GTP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

What three structures possess microtubules?

A

flagella, cilia and mitotic spindles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

What five drugs act on microtubules?

A

Mebendazole,Griseofulvin, Colchicine, Vincristine/Vinblastine, Paclitaxel

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

What is the mnenomic for the five drugs that act on microtubules?

A

Microtubules Get Constructed Very Poorly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

Is dynein retrograde or anterograde?

A

retrograde

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

Is kinesis retrograde or anterograde?

A

anterograde

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

Do cilic have a 9+2 or a 9+3 arrangement?

A

9+2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

What structure is defective in kartagener syndrome? What specific protein?

A

cilia

dynein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

What is the main manifestation of Kartagener syndrome in men and women?

A

infertility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

What kind of pregnancy is more common in Kartagener syndrome?

A

ectopic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

What is the sterol of fungal cell walls?

A

ergosterol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

Vimentin is an immunohistochemical marker of what tissue type?

A

connective tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

Desmin is an immunohistochemical marker of what tissue type?

A

muscle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

Cytokeratin is an immunohistochemical marker of what tissue type?

A

epithelial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

GFAP is an immunohistochemical marker of what tissue type?

A

neuroglia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

Oubain inhibits what transporter?

A

Na+/K+ ATPase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

Where on the Na+/K+ ATPase does Oubain bind?

A

K+ binding site

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

What are three tissues where Type I collagen is found?

A

bone, tendon, skin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
100
Q

Where is type two cartilage found?

A

cartilage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
101
Q

What type of collagen is found in blood vessels?

A

type three

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
102
Q

What type of collagen is targeted in Alport syndrome?

A

Type 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
103
Q

What type of collagen is targeted in Goodpasture syndrome?

A

Type 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
104
Q

Collagen is composed of 1/3 of what amino acid?

A

glycine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
105
Q

What do X and Y of Gly-X-Y stand for?

A

proline and lysine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
106
Q

What type of post-translational modification occurs to collagen other than hydroxylation? At what residues?

A

glycosylation

hydroxylysine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
107
Q

Problems forming the triple helix of collagen result in what disease?

A

Osteogenesis Imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
108
Q

What is cleaved to form tropocollagen from procollagen?

A

disulfide rich regions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
109
Q

What enzyme forms cross-links in tropocollagen? What is required as a co-factor?

A

lysyl oxidase

copper (2+)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
110
Q

What disease results if lysyl oxidase is defective?

A

Ehlers-Danlos Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
111
Q

The most common form of osteogenesis imperfecta is caused by what defects in what type of collagen?

A

Type I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
112
Q

Where does a berry aneurysm occur? What disease predisposes one to a berry aneurysm?

A

cerebral artery bifurcating from CoW

Ehlers Danlos

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
113
Q

What is not absorbed in Menkes Disease? What are two characteristics of the most common manifestation of Menkes Disease?

A

Copper

brittle and kinky hair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
114
Q

Elastin is rich in which two amino acids? Hydroxyated or non-hydroxylated?

A

proline and glycine

non-hydroxylated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
115
Q

What inhibits elastase?

A

α1 anti-trypsin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
116
Q

Marfan syndrome is characterized by a defect in what protein? What is the purpose of this protein?

A

fibrillin

bundle elastin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
117
Q

What cytokine cannot bind fibrillin in Marfan syndrome? What two body parts can result in a fatality in marfan syndrome?

A

TGF-β

aorta and heart valves

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
118
Q

What is the mnenomic for remembering what southern, northern and western blots look for?

A

SNoW DRoP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
119
Q

An indirect ELISA uses what as a probe? What is being looked for?

A

indirect = antigen

looking for antibody

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
120
Q

A direct ELISA uses what as a probe? What is being looked for?

A

direct = antibody

looking for antigen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
121
Q

What does a southwestern blot identify?

A

DNA binding proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
122
Q

Cre-Lox is used to identify genes at what?

A

specific developmental points

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
123
Q

Does RNAi used ssRNA or dsRNA? How does the RNA get into cells?

A

dsRNA

transfection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
124
Q

What does variable expressivity mean?

A

same genotype, different phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
125
Q

What does incomplete penetrance mean?

A

not all genotypes show same phenetype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
126
Q

What does pleiotropy mean?

A

one gene can produce multiple different phenotypes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
127
Q

What is locus heterogeneity? What disease?

A

mutations at different loci can produce the same phenotypes

albinism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
128
Q

What is allelic heterogeneity? What disease?

A

different mutations in the same locus produce the same phenotype

Beta-thalassemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
129
Q

What is heteroplasmy?

A

presence of both mutated and normal mtDNA result in variable expression of disease pattern

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
130
Q

What is uniparental disomy?

A

a child receives two copies of a chromosome from one parent and none from the other

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
131
Q

What chromosome is ADPKD carried on?

A

16

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
132
Q

What chromosome is FAP carried on?

A

5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
133
Q

The levels of what two neurotransmitters are decreased in the brain during Huntingtons? What is the trinucleotide repeat of Huntingtons?

A

GABA and Ach

CAG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
134
Q

What chromosome is disrupted in Huntingtons?

A

Chromosome 4 (Hunting 4 Food)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
135
Q

What type of damage is done to the aorta during Marfans?

A

cystic medial degeneration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
136
Q

What two valves are primarily effected during Marfans?

A

aortic and mitral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
137
Q

What five glands are effected by Multiple Neocrine Neoplasia?

A

pancreas, parathyroid, pituitary, thyroid and adrenal medulla

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
138
Q

What two forms of MEN are associated with the RET gene?

A

MEN 2A and MEN 2B

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
139
Q

What chromosome is NF1 carried on?

A

17

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
140
Q

What is the inheritance pattern of NF1?

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
141
Q

What chromosome is NF2 carried on?

A

22

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
142
Q

Which neurofibromatosis disease features cafe-au-lait spots and cutaneous neurofibromas?

A

NF1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
143
Q

What are the four findings of NF2?

A

bilateral acoustic schwanomas

juvenile cataracts

ependyoma

meningoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
144
Q

What type of growth is seen during Tuberous Sclerosis?

A

Hamartomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
145
Q

What chromosome is VHL disease carried on?

A

three

three words in disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
146
Q

What protein does VHL usually inhibit the activation of? How does it accomplish this?

A

HIF1α

acts as an E3 ubiquitin ligase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
147
Q

What three genes can HIF1α activate?

A

VEGF, PDGF and Epo.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
148
Q

In what location(s) does normal CFTR functioning lead to the secretion of Cl-?

A

lungs and GI tract

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
149
Q

In what location(s) does normal CFTR lead to the reabsorption of Cl-?

A

sweat glands

150
Q

What type of disease can a loop diuretic mimic?

A

CF

151
Q

What body part can be absent in males with cystic fibrosis?

A

vas deferens

152
Q

What is the inheritance pattern of Bruton Agammaglobulinemia?

A

X-linked

153
Q

What type of infection do patients with Bruton Agammaglobulinemia develop? At what age?

A

encapsulated bacteria

infancy

154
Q

What is the inheritance pattern of Wiskott-Aldrich?

A

X-linkedin recessive

155
Q

What is the triad of Wiskott-Aldrich?

A

eczema, thrombocytopenia, immune deficiency

156
Q

In what disease can T-cells not reorganize their actin cytoskeleton?

A

Wiskott-Aldrich

157
Q

What enzyme is deficient in Fabry disease? What product accumulates?

A

α-galactosidase

globotriaosylceramide

158
Q

The production of what product is inhibited in G6PD deficiency?

A

6-phosphogluconolactone

159
Q

What enzyme is deficient in Hunter Syndrome?

A

iduronate sulfatase

160
Q

What two products accumulate in Hunter Syndrome?

A

dermatin sulfate and heparin sulfate

161
Q

What reaction is catalyzed by Ornithine Transbarbamoylase One?

A

carbamoyl phosphate and ornithine into citrulline

162
Q

What is the mnenomic to remember X-linked recessive diseases?

A

Be Wise, Fools GOLD Heeds Silly HOpe

163
Q

What is the most common death of a patient with DMD?

A

dilated cardiomyopathy

164
Q

What happens to dystrophin during DMD?

A

deletion

165
Q

What two proteins does dystrophin link?

A

actin and dystroglycan

166
Q

What two serum protein markers are present in DMD?

A

CPK and aldolase

167
Q

What type of mutation usually takes place in DMD?

A

frameshift

168
Q

What type of mutation usually takes place in BMD?

A

point mutation

169
Q

What trinucleotide repeat is present in myotonic dystrophy type 1?

A

CTG

170
Q

Which protein is improperly expressed in myotonic dystrophy type 1?

A

myotonin protein kinase

171
Q

Other than myotonia and muscle wasting, what are two more symptoms of myotonic muscular dystrophy type 1?

A

frontal balding and cataracts

172
Q

What trinucleotide repeat is present in Fragile X?

A

CGG

173
Q

What gene is effected during Fragile X? What post-transcriptional modification is effected?

A

FMR1

methylation

174
Q

What three body parts are enlarged during Fragile X?

A

testes, jaws and ears

175
Q

What is the trinucleotide expansion in Friedrich’s Ataxia?

A

GAA

176
Q

Where is trisomy in Edwards Syndrome?

A

18

177
Q

What two GI diseases can a person with Downs develop?

A

duodenal atresia

Hirschprung Disease

178
Q

What is the most common heart defect for a patient with Downs Syndrome?

A

ASD (ostium primum)

179
Q

What two types of cancer is a patient with Downs syndrome predisposed to?

A

ALL and AML

180
Q

What type of neurodegenerative disease can a person with Downs develop past the age of 35/40?

A

Alzheimers

181
Q

What five chromosomes can undergo a robertsonian translocation?

A

13, 14, 15, 21 and 22

182
Q

What two structures produce α-FP in the fetus?

A

yolk sac and liver

183
Q

What four specific types of tumors can possess elevated α-FP?

A
  1. endodermal sinus/yolk sac
  2. hepatoblastoma
  3. hepatocellular carcinoma
  4. Neuroblastoma
184
Q

What are two physical characteristics of a patient with Edwards Syndrome?

A

rocker-bottom feet

low set ears

185
Q

What are three physical characteristics of Patau Syndrome?

A

cleft liP/Palate

holoProsencephaly

polydactyly

186
Q

What is an acrocentric chromosome?

A

chromosome with centromeres near their ends

187
Q

What chromosomal aberration causes Cri-du-chat?

A

microdeletion of 5p

188
Q

What heart abnormality can present in a patient with Cri-du-chat?

A

VSD

189
Q

What chromosome is effected by Williams Syndrome? Long or short arm?

A

7

long

190
Q

What electrolyte deficiency can a patient with Williams Syndrome present with? Why?

A

hypercalcemia

increased sensitivity to Vitamin D

191
Q

What is the karyotype of a patient with DiGeorge Syndrome? What is the mnemonic?

A

22q11

CATCH22

192
Q

What does the ‘C’ of CATCH22 stand for?

A

cleft palate

193
Q

What does the ‘A’ of CATCH22 stand for?

A

abnormal facies

194
Q

What does the ‘T’ of CATCH22 stand for?

A

thymic aplasia

195
Q

What does the second ‘C’ of CATCH22 stand for?

A

cardiac defects

196
Q

What does the ‘H’ of CATCH22 stand for?

A

Hypocalcemia

197
Q

What pharyngeal arches are defective in DiGeorges Syndrome?

A

3rd and 4th

198
Q

What is the function of H1 histone?

A

linker between nucleosomes

199
Q

What two DNA bases are capable of being methylated?

A

adenine and cytosine

200
Q

How many rings do purines have? Pyrimidines?

A

purines = two

pyrimidines = one

201
Q

What two amino acids are required for pyrimidine synthesis?

A

Aspartate and glutamine

202
Q

What amino acid is required for CPS I?

A

glutamine

203
Q

What is the first base the leflunomide will inhibit the synthesis?

A

UMP

204
Q

What two enzymes make up UMP Synthase?

A

Orotate phosphoribosyl transferase

O5P Decarboxylase

205
Q

What are the three MOAs of ribavirin?

A
  1. inhibits GMP/GTP formation
  2. blocks mRNA capping
  3. blocks RNA-dependent RNA polymerase
206
Q

What rxn is catalyzed by ribonucleotide reductase?

A

UDP tp dUDP

207
Q

Thymidylate synthase will inhibit the formation of what nucleotide?

A

dTMP

208
Q

What reaction does APRT catalyze?

A

adenine to AMP

209
Q

What are the two rxn’s catalyzed by Xanthine Oxidase?

A
  1. Hypoxanthine to Xanthine

2. Xanthine to uric acid

210
Q

What does the H of HGPRT stand for? (Mnemonic)

A

Hyperuricemia

211
Q

What does the G of HGPRT stand for? (Mnemonic)

A

gour

212
Q

What is allopurinol an analogue of?

A

Hypoxanthine

213
Q

What rxn is catalyzed by amidophosphoribosyltransferase? What amino acid is consumed and a byproduct? What metabolic pathway is this enzyme involved in the committed step of?

A

PRPP to PRA

Gln to Glu

Purine

214
Q

What type of prokaryotic topoisomerases do fluoroquinolones inhibit?

A

Type II

215
Q

What six nucleotide fragment does telomerase add? What end of the DNA?

A
  1. TTAGGG

2. 3’

216
Q

Does telomerase use an RNA or DNA primer?

A

RNA

217
Q

What type of muscular dystrophy features a frameshift mutation?

A

Duchenne

218
Q

Is the triphosphate on the 5’ or the 3’ end of the incoming nucleotide?

A

5’

219
Q

What is the function of the CCA of tRNA?

A

transport amino acids

220
Q

What is the function of rRNA?

A

catalyze peptide chain growth

221
Q

What Cyclin corresponds to G0? Which CDK?

A

C

CDK3

222
Q

Which cyclin corresponds to G1? Which CDK?

A

D and E

2, 4 and 6

223
Q

Which cyclin corresponds to S? Which CDK?

A

A and E

2

224
Q

Which cyclin corresponds to G2? Whick CDKs?

A

A

2 and 1

225
Q

Which cyclin corresponds to M? Which CDKs?

A

B

1

226
Q

What is the function of Nissl Bodies?

A

site of neurotransmitter synthesis

227
Q

Rather than being trafficked to lysosomes, what happens for proteins in I-cell disease?

A

secreted extracellularly

228
Q

What type of collagen is reticulin found in?

A

Type III

229
Q

What are the three main manifestations of Alport Syndrome?

A
  1. hematuria
  2. proteinuria
  3. bilateral hearing loss
230
Q

What three tissues is Type IV collagen most important?

A

kidney, ear and eye

231
Q

What two tissues are most effected by Goodpasture Syndrome?

A

lungs and kidneys

232
Q

Lysyl oxidase forms cross linkages between which two amino acid residues of collagen?

A

lysine and hydroxylysine

233
Q

What veins are visible in the eye during Osteogenesis Imperfecta?

A

choroidal veins

234
Q

What normal component of teeth can be absent during Osteogenesis Imperfecta?

A

dentin

235
Q

What two types of aneurysms can be present in Ehlers-Danlos Syndrome?

A

berry and aortic

236
Q

What type of collagen is most most commonly effected during Ehlers-Danlos Syndrome?

A

Type V

237
Q

What enzyme is primarily effected during Menkes Disease? Leading to a deficiency of?

A

lysyl oxidase

collagen

238
Q

What type of degeneration can occur in the CV system due to Marfans?

A

cystic medial degeneration

239
Q

Fibrillin-1 sequesters what cytokine?

A

TGF-β

240
Q

What is imprinted in Prader-Willi? Deleted?

A

mother = imprinted

father = deleted

241
Q

What is imprinted in Angleman? Deleted?

A

mother = deleted

father = imprinted

242
Q

What type of genetic disease are at an increased risk of affecting children in consanguineous families?

A

autosomal recessive

243
Q

What does FGF23 do to phosphate reabsorption?

A

decreases it

244
Q

Is FGF23 increased or decreased in its activity during Hypophosphatemic Ricketts?

A

increased

245
Q

Which tRNA is affected by MERRF?

A

tRNA-lysine

246
Q

Is autosomal dominant polycystic kidney disease unilateral or bilateral?

A

always bilateral

247
Q

What two proteins are affected in Hereditary Spherocytosis?

A

spectrin and ankyrin

248
Q

What does hereditary spherocytosis lead to?

A

hemolytic anemia

249
Q

What is the function of ankyrin and spectrin?

A

allow RBC to change shape

250
Q

What is the inheritance pattern of Hereditary Spherocytosis?

A

Autosomal Dominance

251
Q

What specific part of the brain atrophies during Huntingtons?

A

Caudate

252
Q

What is the mode of inheritance for Huntingtons?

A

Autosomal Dominant

253
Q

What is the mode of inheritance for Marfans?

A

Autosomal dominant

254
Q

What are the five tissues susceptible to MEN?

A
  1. parathyroid
  2. pancreas
  3. pituitary
  4. thyroid
  5. adrenal medulla
255
Q

What forms of MEN are associated with ret gene?

A

2A and 2B

256
Q

What is the mode of inheritance of multiple endocrine neoplasia?

A

autosomal dominant

257
Q

What is the mode of inheritance of NF2?

A

autosomal dominant

258
Q

Are cafe-au-lait spots indicative of NF1 or NF2?

A

NF1

259
Q

Are cafe-au-lait spots indicative of NF1 or NF2?

A

NF1

260
Q

What is another name for NF1? What chromosome?

A

von Recklinghausen

17

261
Q

Are cutaneous neurofibromas indicative of NF1 or NF2?

A

NF1

262
Q

What is the mode of inheritance for both neurofibromatosis?

A

autosomal dominant

263
Q

What two proteins are mutated during Tuberous Sclerosis?

A

Hamartin and Tuberin

264
Q

What type of protein is VHL?

A

E3 ubiquitin ligase

265
Q

What is the mode of inheritance for VHL?

A

autosomal dominant

266
Q

What is the common bug in lung infections for CF patients?

A

Pseudomonas

267
Q

What is the function of N-acetylcysteine?

A

to cleave mucus plugs

268
Q

What structure can be absent in males with CF?

A

vas deferens

269
Q

What vitamins can be absent in a patient with CF?

A

A, D, E and K

270
Q

What type of muscles experience pseudohypertrophy in DMD?

A

calf muscles

271
Q

What gene gets deleted in Williams syndrome?

A

elastin

272
Q

What is the main CV problem in a person with Williams Syndrome?

A

supravalvular aortic stenosis

273
Q

Which two drugs block the conversion of IMP to GMP?

A

Mycophenelate mofitil

ribavirin

274
Q

Which enzyme does Leflunamide inhibit?

A

Dihydroorotate Dehydrogenase

275
Q

Leflunomide inhibits which reaction?

A

carbamoyl phosphate into orotate

276
Q

Which rxn does amidophosphoribosyl transferase inhibit?

A

PRPP into PRA

277
Q

Which enzyme is the committed step of de novo purine synthesis?

A

Amidophosphoribosyltransferase

278
Q

6-Mercaptopurine inhibits what enzyme?

A

HGPRTase

279
Q

What two reactions does HGPRTase catalyze?

A

Guanine into GMP

Hypoxanthine into IMP

280
Q

What rxn does APRT catalyze?

A

adenine into AMP

281
Q

What rxn does ADA catalyze?

A

adenosine into inosine

282
Q

Which RNA Polymerase degrades the RNA Primer? Which direction?

A

One

5’ to 3’

283
Q

What type of enzyme is telomerase?

A

RNA dependent DNA polymerase

284
Q

Which enzyme can be missing in Ehlers-Danlos Sydrome?

A

procollagen peptidase

285
Q

Does Procollagen Peptidase function in the intra or extra cellular space?

A

extra

286
Q

Does a Procollagen Peptidase deficiency result in collagen that is water soluble or insoluble? What does this cause?

A

soluble

deficient cross linking

287
Q

What type of bond creates the triple helix?

A

disulfide

288
Q

Which metal is a co-factor for Lysyl Oxidase?

A

copper

289
Q

Is Xeroderma Pigmentosum enzyme an endo or exo nuclease?

A

endonuclease

290
Q

What type of enzyme is functioning during base excision repair?

A

Glycosylase

291
Q

Toxic Deamination is repaired by what process?

A

Base Excision Repair

292
Q

Does the parent or daughter strand get methylated?

A

parent

293
Q

What is the common secondary structure that spans membranes?

A

alpha-helices

294
Q

Is the triphosphate on the 5’ or 3’ end?

A

5’

295
Q

Is fMET prokaryotes or eukaryotes?

A

pro

296
Q

fMet can increase the chemotaxis of what immune cell?

A

neutrophils

297
Q

Which drug can inhibit Eukaryotic RNA Polymerase?

A

Dactinomycin

298
Q

What is the polyadenylation sequence? Does this require a template?

A

AAUAAA

no

299
Q

What is the function of Cytoplasmic P-Bodies?

A

quality control of mRNA

300
Q

What is the initial RNA transcript called?

A

heterogenous nuclear RNA

301
Q

P-Bodies contain what three enzymatic activities?

A

exonuclease

decapping

microRNA

302
Q

Which disease involves alternative splicing?

A

beta-thalassemia

303
Q

Which site does initiator methionine bind to?

A

A site

304
Q

Is there amino acid incorporation proofreading?

A

no

305
Q

What is the telomerase sequence?

A

TTAGGG

306
Q

What type of enzyme is Telomerase?

A

Reverse Transcriptase

307
Q

What is the normal secondary structure of amyloid?

A

alpha-helical

308
Q

What is the pathological secondary structure of amyloid?

A

beta-sheets

309
Q

Which phases of the cell cycle compose interphase?

A

G1/S/G2

310
Q

What organelle does N-linked Glycosylation occur at?

A

rER

311
Q

Which two cell types are rich in rER?

A

mucus secreting goblet cell

plasma cells

312
Q

What organelle does O-linked Glycosylation occur at?

A

Golgi

313
Q

Defects in what organelle have been noted in Parkinsons?

A

Peroxisome

314
Q

Which molecule is required to convert Azathioprine into 6MP?

A

glutathione

315
Q

Which five amino acids are both glucogenic and ketogenic?

A

Trp

Phe

Tyr

Ile

Thr

316
Q

Which protein connects the doublets in a Microtubule?

A

Dynein

317
Q

What molecule does dynein use for energy?

A

ATP

318
Q

C1 Deficiency predisposes a patient to what type of bacteria?

A

Encapsulated

319
Q

C1 Deficiency predisposes a patient to what type of autoimmune disease?

A

SLE

320
Q

What is the most common type of collagen absent in Ehlers Danlos?

A

type three

321
Q

Fatty acids must be under how many carbons before they are taken into the mitochondria?

A

14

322
Q

What is the Mode of Inheritance for Ehlers-Danlos?

A

autosomal recessive or dominant

323
Q

Ehlers Danlos syndrome manifesting in the joints and skin features a defect in what type of collagen?

A

Type 5

324
Q

Ehlers Danlos syndrome manifesting in the vascular or organ rupture is a defect in what type of collagen?

A

three

325
Q

Selenium is needed for what enzyme?

A

glutathione peroxidase

326
Q

What specific enzyme is deficient during I-cell?

A

N-acetylglucosamine-1-phosphoribosyltransferase

327
Q

What specific happening does Kartagener Syndrome do to the heart?

A

aberrant looping

328
Q

Karyotyping uses chromosomes in what phase?

A

metaphase

329
Q

Which protein acts as a scaffold for elastin?

A

fibrillin

330
Q

What are two co-dominant traits?

A

blood types

alpha-1 anti-trypsin

331
Q

Which disease is known to have variable expresstivity?

A

NF1

332
Q

Which disease is known to have Incomplete Penetrance?

A

BRCA

333
Q

Which disease is known to have Pleiotropy?

A

PKU

334
Q

What disease is fatal if somatic but survivable if mosaic?

A

McCune Albright

335
Q

Does RB release E2F when hyper or hypo phosphorylated?

A

hyper

336
Q

What is the function of p27?

A

cell cycle inhibitor

337
Q

What is heterodisomy?

A

inheritance of two non-identical chromosomes from a parent

338
Q

Heterodisomy indicates an error in what stage of replication?

A

meiosis one

339
Q

What is isodisomy?

A

inheritance of two identical chromosomes from a parent

340
Q

Isodisomy indicates an error in what stage of replication?

A

meiosis two

341
Q

What is the sole lipoprotein of LDL?

A

B-100

342
Q

What are allotypes?

A

inherited constant regions of heavy and light Ig

343
Q

What is an Idiotype?

A

antigen recognition sequence of immunoglobulin

344
Q

What are the three X-Linked Dominant diseases?

A

Hypophosphatemic rickets

Rett Syndrome

Fragile X

345
Q

What enzymes are deficient in MERRF?

A

oxidative phosphorylation

346
Q

Which acid/base abnormality can present during MERRF?

A

lactic acidosis

347
Q

Which cranial nerve abnormality can MERFF have?

A

hearing loss

348
Q

Which B-vitamin deficiency can be mimmicked in MERFF? Manifesting as?

A

B2

night blindness

349
Q

What does MELAS mean?

A

Myoclonic epilepsy with lactic acidosis and stroke like symptoms

350
Q

Which chromosome is PKD1 on?

A

16

351
Q

Which chromosome is PKD2 on?

A

4

352
Q

What is the mode of inheritance of Familial Hypercholesterolemia?

A

AD

353
Q

Does Huntingtons have an increased or decreases level of Ach?

A

decreased

354
Q

Marfan Syndrome involves what chromosome?

A

15

355
Q

What is the diretion of the lens Sublaxation during Marfan?

A

upward

temporally

356
Q

What disease presents with Multiple Benign Hamartomas?

A

Tuberous Sclerosis

357
Q

What four cancera arise during LiFraumeni?

A

Sarcoma

breast

Leukemia

Adrenal

358
Q

What is the mode of inheritance for LiFraumeni Syndrome?

A

AD

359
Q

What protein does VHL bind and inhibit?

A

HIF-1-alpha

360
Q

What type of protein does VHL act like?

A

E3 ubiquitin ligase

361
Q

What chromosome is CFTR located on?

A

seven

362
Q

What male genitourinary structure is affected during CFTR? What happens to it?

A

vas deferens

absent

363
Q

Which two proteins does dystrophin bind?

A

actin

dystroglycan

364
Q

Which trinucleotide disease can present with testicular atrophy?

A

myotonic dystrophy

365
Q

What does the Myotonic of Myotonic Dystrophy lead to?

A

delayed muscle relaxation

366
Q

What heart abnormality can present during Fragile X?

A

MVP

367
Q

What disease is tested for by culturing lymphocytes with methotrexate or folate deficient medium and looking for breaks in chromosomes?

A

Fragile X

368
Q

Which trisomy presents with a gap between the first two toes?

A

Downs

369
Q

What type of ASD does Downs Syndrome present with?

A

Ostium Primum

370
Q

Is PAPP-A increased or decreased during Downs?

A

increased

371
Q

Are the short arms or long arms lost during a robertsonian translocation?

A

short

372
Q

What ingested material can cause a deficiency in fat soluble vitamins?

A

Mineral Oil

First Aid (21 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions