Brainscape's Knowledge GenomeTM

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


See full index

FA genetics/ Biochem > Biochem facts > Flashcards

Biochem facts Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

Amino acids necessary for purine synthesis?

A

GAG
Glycine
Aspartate
Glutamine

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

What drugs inhibit enzymes of pyrimidine syn;
Ribonucleotide reductase
Thymidalate synthase
DHFR

A 
RR= Hydroxyurea
TS= 5FU
DHFR= MTX, TMP, Pyrimethamine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What drugs inhibit purine synthesis?

A

6-MP
Azathiprine
Ribavirin
Mycophenalate mofetil

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

Only two amino acids that are coded by only 1 codon?

A

Methionine

Tryptophan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q 
DNA replication enzyme functions:
Topoisomerase 
DNA pol 3
DNA pol 1
Telomerase
A

Topo =Relieve supercoils
DNApol3= 5->3 synthesis & 3->5 Exonuclease
DNA pol1= Degrades RNA primer and replaces it with DNA
Telomerase= adds DNA 3’ ends of chromosomes to avoid loss during duplication

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

Enzyme responsible for replacing RNA primers during DNA replication?

A

DNA pol 1

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

Enzyme that has proofreading capabilities during DNA replication?

A

DNA pol 3

3->5 EXOnuclease

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

Transition vs Transversion mutation?

A

BOTH Missense or nonsense mutations
Transition= replace purine with purine (opposite also true)
Transversion= Purine with pyrimidine

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

Nucleotide excision repair?

A

Endonuclease release damaged Bases and DNA pol & Ligase fill in gaps

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

What disease is caused by defective Endonuclease action?

A

XP ==> Cant fix Thymidine dimers in the MIDDLE of the DNA (hence ENDOnucelase)

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

Base excision repair?

A

Glycosylase removes damaged bases
Endonuclease cuts DNA
Gaps filled in by DNA pol & Ligase

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

What disease is caused by defective mismatch repair genes?

A

HNPCC=> so with every new duplication DNA mistmatches are not recognized and repaired.

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

What disease is caused by mutation in the repair of Double stranded breaks?

A

Ataxia telangiectasia

DNA repair gene mutation

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

In Eukaryotes what forms:
rRNA
mRNA
tRNA

A

DNA pol 1
DNA pol 2
DNA pol 3
**Numbered according to use of RNA during protein synthesis
**1 RNA pol makes ALL 3RNA in prokaryotes

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

Amanitin/ mushroom poison inhibits what?

A

DNA pol 2 ==> mRNA synthesis

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

Autoantibodies against snRNPs are highly specific of what disease?

A

SLE ==> aka Anti-smith antibodies

Anti-U1 RNP = mixed CT disease

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

Where do AAs bind on the tRNA?

A

3’ CCA site

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

What antibiotics bind the 30s and inhibit initiation complex formation?

A

Aminoglycosides

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

Antibiotics that block aminoacyl tRNA from entering acceptor site?

A

Tetratcyclines

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

Antibiotic that inhibits peptidyl transferase?

A

Chloramphenicol (binds 50s)

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

Antibiotics that prevent release of unchanged tRNA and thus inhibit translocation?

A

Macrolides

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

What two signals inhibit G1->S phase transition?

A

p53

Hypophosphorylated Rb

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

Examples of:
Permanent cells
Stable
Labile

A 
Permanent-= RBC, neuron, skeletal/ cardiac m
Stable = hepatocyte
labile= BM, skin, gut epithelium
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the site of N-linked oligosaccharide addition to proteins?

A

RER

**Nissel bodies in neuron= RER

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

Functions of SER?

A

Steroid synthesis
Detoxification
**Hepatocytes + Adrenal cortex rich SER supply

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

What adds 0-oligosaccharides on serine residues and mannose-6P to proteins?

A

GOLGI

I cell disease

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

Features of I cell disease?

A

Enzymes secreted into ECS not lysosomes
Coarse face
CLouded cornea
Gingival hyperplasia

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

What is the function of signal recognition particles?

A

Traffic proteins from ribosomes to RER by recognizing hydrophobic regions.
**Defect= accumulation of proteins in cytosol

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

Cis vs Trans golgi?

A

Cis=> closer to RER

Trans=> sends vesicles to plasma membrane

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

Pt with recurrent pyogenic infections, light colored skin, and neuropathy has defect in what process?

A

Chediak Higashi = mutation in lysosomal trafficking regulator gene required for Microtubule dependent sorting of proteins into vesicles

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

What drugs act on microtubules?

A 
Mebendazole
Griseofulvin
Vincristine
Paclitaxel
Colchicine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What elements are required for microvilli, muscle contractions, “Cytokinesis”, adherens junctions?

A

Actin and myosin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q 
What structures composeL 
Desmin
vementin
Cytokeratin
Lamins
GFAP
A

Intermediate filaments

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q 
What is made by collagen:
Type 1 
Type 2 
Type 3
Type 4
A

T 1 = Bone, tendons, ligaments, scar, cornea, dentin
T2= Cartilage, nucleus pulposus
T3= Skin, BVs, Granulation tissue
T4= basement membrane

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

Collagen production:
Inside fibroblast RER
Outside fibroblast

A

Inside RER= Gly-x-y synthesis, Hydroxylation, Glycosylation, Triple helix
outside = Peptide cleavage, Cross links (Cu dep)

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

What part of collagen production requires Vitamin C and Cu?

A

Vit C= Hydroxylation

Cu = Cross linking hydroxylysine residue

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

Features of Alports syndrome?

A

Defect in T4 collagen X-linked
Nephritis
Deafness
Ocular issues

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

What are features of Elastin?

A

Rich in proline and glycine NONhydroxylated
Cross linking makes it Elastic
Wrinkles= dec collagen & elastin
Def in Marfans and Emphysema

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

Direct vs Indirect ELISA?

A 
Indirect= Find Specific antibodies in pt serum using test antigen
Direct= find Antigen in pt serum using antibody
40
Q

What test is able to detect SNPs and genetic linkages?

A

Microarrays

41
Q

Phenotypes vary among individuals with same genotype?

A

Variable expressivity

42
Q

One gene contributes to multiple phenotypes?

A

Pleiotropy

43
Q

Mutation at different sites produce similar phenotypes?

A

Locus heterogeneity = Albinism

44
Q

Different mutation in the same site produce same phenotype?

A

Allelic heterogeneity = Beta thalasemia

45
Q

Associations with ADPKD?

A

Ch 16
Berry aneurysms
MVP

46
Q

Pt with telangiectasia, epistaxis, skin discolorations, and CT scan shows SAH?

A

Osler-Weber- Rendu
Blood vessel disorder=
AVM leading to SAH

47
Q

NT changes seen in Huntingtons?

A

Dec ACh + GABA

48
Q

What is the defect in CF?

A

Defect in ATP-gated Cl channel
508 Phe deletion causing abnormal folding of CFTR leading to protein retained in RER
**N-acetylcystein loosens mucus

49
Q

Meiosis 1 vs 2 nondisjunction?

A 
M1= Heterozygote
M2= homozygote
50
Q 
Water soluble vitamins: 
B1=
B2=
B3
B5
B6
B7
B9
B12
Ascorbic acid
A 
B1= Thiamine
B2= Fiboflavin
B3= Niacin
B5= Pantothenic acid = CoA 
B6= pyridoxine
B7= Biotin
B9= Folate
B12= Cobalamin
Ascorbic acid= Vit C
51
Q

What vitamin is needed for FA synthase?

A

B5 pantothenate= essential for CoA

**required for FA synthesis

52
Q 
What molecules carry: 
Carbon groups (CO2)
1-carbon units 
Methyl group
Aldehyde
A 
Biotin = CO2
THF= 1 carbon
SAM= methyl
Pyridoxin = Aldehyde
53
Q

What is NADPH made by the Pentose phosphate shunt used?

A

Anabolic processes (Cholesterol, FA)
Respiratory burst
P450
Glutathione reductase

54
Q

Hexokinase or glucokinase:
Induced by Insulin
Feedback inhibition by G6P
Mutated in Maturity onset Diabetes of young

A

Glucokinase induced by insulin
Hexokinase inhibited by G6P
Glucokinase mutated in MODY

55
Q

Pyruvate dehydrogenase complex requires what cofactors? What other enzyme has the same requirements?

A 
Pyrophosphate (B1/ thiamine)
FAD (B2 riboflavin)
NAD (B3 niacin)
CoA (B5 panthothenate)
Lipoic acid 
**a-Ketogluterate dehydrogenase
56
Q

Pt with arsenic poisoning will have vomiting, rice water stools, and garlic breath due to inhibition of what?

A

Lipoic acid=> stops Pyruvate dh and thus TCA

57
Q 
ETC inhibitors:
C1 
CoQ (C3)
CC/ C4
C5/ ATP synthase
A 
C1= Rotenone
C3= Antimycin
Cc/C4= CO/ cyanide
C5= Oligomycin
58
Q

What are some ETC uncoupling agents/ increase O2 consumption and produce heat with NO ATP synthesis?

A

2,4-DNP
Aspirin
Thermogenin in Brown fat

59
Q 
What are the steps of Gluconeogenesis in:
Mitochondria
Cytosol 
Cytosol 
ER
A

Mito: Pyr—-biotin—> OAA
OAA—GTP—> PEP
F1,6-BP—–> F6P
ER: G6P—-> Gluc

60
Q

Why can Odd chain FA be used for Glucose production but Even chains cannot?

A

Odd chains metabolized into Succinyl CoA which feeds into OAA and makes Glucose
Even chains only make Acetyl CoA

61
Q

@ what sites are HMP shunt working the highest?

A 
Sites of Steroid of FA synthesis
Mammary glands
Adrenal cortex
Liver
RBC
62
Q

What is seen on the blood smear of person with G6PD def?

A

Heinze bodies= oxidized Hb

Bite cells= removal of heinze bodies

63
Q

Why are Aldolase B and Uridyl transferase Def more severe than Fructokinase and Galactokinase def?

A

They deplete Phosphate levels by accumulation the phosphorylated forms of the sugars causing less for ATP production

64
Q

Essential AAs:
Glucogenic
Ketogenic

A 
Glucogeic== Met, Val, His
Ketogenic= Leu, Lys
65
Q

Acidic vs Basic AAs?

A 
acidic= Asp, Glu
basic= His, Arg, Lys
66
Q

What two AAs are required in excess during growth?

A

Arg + His

67
Q

What is the consequence of Hyperammonemia?

A

Depletion of a-ketogluterate leading to Inhibition of TCA cycle

68
Q

What are some of the treatments for hyperammonemia?

A

Limit proteins
Phenylbuterate/ Benzoate= bind AAs
Lactulose

69
Q

What cofactor is required for Phenylalanine hydroxylase and Tyrosine hydroxylase?

A

BH4 (tetrahydropterion)

  • *Also required for Trp–> 5HT
  • *Arg==> NO
70
Q

The production of what NTs requires BH4?

A

Dopamine + 5HT

71
Q

DOPA carboxylase converts DOPA-> DA but requires what cofactor?

A

B6 pyridoxine

72
Q

Dopamine–> NE requires what cofactor?

A

Vitamin C

73
Q

What kind of reaction makes NE–> Epi?

A

Methylation thus requires SAM

74
Q

Histamin production requires what cofactor?

A

B6 (carboxylated from histidine)

75
Q

Porphyrin production is made by what AA and requires what cofactor?

A

(Glycine + B6) + Succinyl CoA=> HEME

76
Q

What things are derived from Arg?

A

NO
Creatine
Urea

77
Q

What are some treatment options for Homocystinuria?

A

Dec Methionine
Inc Cysteine
Inc B6 & B12 & Folate

78
Q

Urine Cyanide-Nitroprusside test is diagnostic of what genetic disease?

A

Cystinuria

79
Q

Pt with mental retardation and increased serum alpha ketoacids has what defect?

A

Maple syrup urine disease=> blocked degradation of Branched amino acids
(Ile, Leu, Val)

80
Q

Accumulation of Ceremide trihexoside leads to what?

A 
Fabry's ==> a-galactosidase def
CV + RENAL disease
Angiokeratomas 
peripheral neuropathy 
*ONLY XR
81
Q

Accumulation of Glucocerebroside leads to what?

A

Gauchers = Glucocerebrosidase def
Bone necrosis
Hepatosplenomegaly
Wrinkled Kupffer cells

82
Q

Accumulation of Sphingomyelin leads to what?

A

Neiman Picks = Sphingomeyelinase def
Neurodegeneration
Cherry red Macula spots
HEPATOMEGALY

83
Q

Accumulation of GM2 ganglioside leads to what?

A

Tay Sachs = Hexominidase def
Neurodegeneration
Cherry Red macula spots
NO hepatosplenomegaly

84
Q

Accumulation of Galactocerebroside leads to what?

A

Krabbe = Galactocerebrosidase def
Neuropathy
Optic atrophy
Globoid cells

85
Q

Accumulation of Cerebroside sulfate leads to what?

A

Metachromatic leukodystrophy = Arylsulfatase
Ataxia
Demyelination
Dementia

86
Q

Accumulation of LCFA leads to what?

A

Adrenoleukodystrophy

87
Q

Accumulation of Heparan/ dermatan sulfate leads to what?

A

Hurlers = Iduronidase def
*Gargoylism, Corneal clouding, Hepatosplenomegaly
Hunters = Iduronate sulfatase def
*Aggressive, NO corneal clouding

88
Q

What are two metabolic defects in FA oxidation?

A

Carnitine def

Acyl-CoA dh def

89
Q

Pt with weakness, hypotonia, Hypoketotic and hypoglycemic has what def?

A

Carnitine def

90
Q

Pt with Hypoglycemia, Hypoketonemia, and increased Dicarboxylic acids has what def?

A

Acyl-CoA dh def

91
Q

HMG-CoA is converted into what during Cholesterol synthesis?

A

Mevalonate by HMG-CoA reductase

92
Q

Where is LPL located?

A

Endothelial cells

93
Q

What is the action of Hormone sensitive lipase?

A

degradation of TG stores in adipose tissue

94
Q

What apolipoprotein mediates Remnant uptake?

A

Apo E

**Only LDL does have them

95
Q

What apolipoprotein activates LCAT?

A

apo A1

*ONly HDL

96
Q

What apolipoprotein is a cofactor/ activator of LPL?

A

apo CII –> HDL gives to VLDL/ chylomicrons

97
Q

What is the difference btwn Apo B48 & B100?

A

B100 in VLDL can BIND LDL receptors

FA genetics/ Biochem (10 decks)

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