Brainscape's Knowledge GenomeTM

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


See full index

Biochemistry FA > Other > Flashcards

Other Flashcards

1
Q

N-formylmethionine (fMet) role

A
  1. Initiation amino acid in prokaryotes

2. Neutrophil chemotaxis

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

Introns can contain

A

miRNA genes

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

Cistinuria - treatment

A

Urinary alkalization (potassium citrate, acetazolamide), chelation agents (penicillamin)

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

Golgi apparatus function

A
  1. Modifies N-oligosaccharides on Aspargine
  2. Adds O-Oligosacch on SERINE + THREONINE
  3. Adds Mannose-6-p
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Procollagen bonds

A

hydrogen + disulfide

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

protein synthesis direction

A

N-terminus to C

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

intros sequence

A

GU….AG

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

tRNA activates energy

A
  1. charging - ATP
  2. initiation pr synthesis - GTP
  3. ribosomes translocation - GTP
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Pyridoxine function

A
  1. transamination
  2. decarboxylation
  3. glycogen phosphorylase
    CYSTATHIONE, heme, niacin, HISTAMINE, SERETONIN,, epinephrin, norepin, dopamine, GABA`
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Tuberous scleoris - phenotype expression features

A

INCOMPLETE PENETRANCE

variable expression

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

Duchenne gait, MCC of death

A
  1. waddling gait

2. Dilated cardiomyopathy

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

Pompe disease findings

A
  1. Cardiomyopathy
  2. hypertr cardiomyopathy
  3. exercie intolerance
  4. systemic findings leading to early death
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

HMG-coa reductase regulators

A

+ insulin, T4

- Glucagon, cholesterol

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

ATP production - pathways

A

malate-aspartate –> 32
Glycerol-3-P –> 30
Anaerobic –> 2

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

NADPH is used in

A
  1. anabolic (not ketones)
  2. P450
  3. Respiratory burst
  4. Glutathione reductase
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Pyruvate to lactate - major pathway in which tissues

A
  1. RBCs 2. testicles 3. leukocytes

4. lens 5. kidney medulla 6. cornea

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

inhibitors of every step in REDOX

A
  1. complex 1 –> rotenone
  2. complex 2 –> antimycin A
  3. complex 4 –> cyanide, CO
  4. complex 5 –> oligomycin
  5. uncoupling agents –> dinitrophenol, aspirin, thermogenein
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

gluconeogenesis tissues

A

liver
intestine
kidney

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

fatty acids/gluconeogenesis

A

even chain –> cannot produce since only acetyl-coa

odd chain –> yield one propionyl-coa –> succinyl coa –> glucose

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

sites of HM shunts (organs)

A

fatty acid or steroid synthesis

  1. RBCs
  2. lactating mammary glands
  3. liver
  4. adrenal
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Tissue with sorbitol dehydrogenase

A
  1. ovaries
  2. seminal vesicles
  3. liver
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Tissue without sorbitol dehydrogenase

A
  1. scwann
  2. retina
  3. kindey
  4. lens
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

essential glucogenic ketogenic aminoacids

A
  1. phenylalanine
  2. tryptophan
  3. threonine
  4. isoleucine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

hyperammonemia treatment

A
  1. limit protein
  2. lactulose
  3. Neomycin + rifamixin
  4. Phenylbutyrate or Benzoate –> bind aminoacid + lead to excretion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

mechanism of hypoglycemia in acyl-coa dehydrogenase deficiency

A

acyl-coa is a + allosteric regulator of pyruvate carboxylase

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

types of ketone bodies (+ tests)

A

acetone
acetoacetate
β-hydroxybutyrate (not in urine)

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

MC heart defect in Turner (and ausculation)

A

bicuspid aortic valve (20-30%) –> early systolic, high frequency click over the riht second intespace
(other heart defect is coartraction 3-10%)

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

familiar hypercholesterolemia - type of mutation

A

frameshift

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

Syndromes with shortened telomeres

A

syndromes with premature aging (eg. Bloom syndrome)

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

GAA in frataxin –> …

A

decreased translation (NOT TRUNCATED)

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

The low of segregation

A

Mendel’s first law:
gametogenesis within parent organism results in separation of paired alleles so that each offspring inherits only half of each parent’s genetic composition

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

Turner - area of coartraction

A

Preductal

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

CF - infertility

A

inadequate mesonephric duct development

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

Down syndrom - nondisjunction during

A

anaph 1 or 2

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

out of frame vs in frame mutation

A

out of frame –> premature termination

in frame –> maintains the reading

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

RNA polynerase I vs II vs III according to production

A

I –> 18S, 5.8S & 28S ribosomal RNA (first 45 that divided)
II –> mRNA, miRNA, snRNA
III –> tRNA, 5S ribosomal RNA (essentail for 60S subunit)

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

presenilin genes ch

A

presenilin 1 –> ch 14

presenilin 2 –> ch 1

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

CF vs Primary ciliary dyskinesia according to nasal polyps, digital clubbing

A

both have

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

palindromic sequence in DNA

A

reading 5–> 3 in one strand is the same as 5–>3 to the other

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

Lyonization

A

X-inactivation
Methylated DNA
deacetylated histones

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

Risk factors for molar pregnancy

A
  1. maternal age
  2. prior molar pregnancy
  3. infertility
  4. prior miscarriage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

MEN 1 ch

p53 ch

A

11

17

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

pheo vs renal ca in VHL

A

renal is more common

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

epistasis?

A

the allele of one gen affects tje phenotypic expression of alleles in another gene

45
Q

primary amenorrhea

A

absence of menses by age 15 in someone who has normal growth + secondary sexual characteristics or absence of menses by age 13 in girls without 2ry sexual characteristics

46
Q

TATA box location

CAAT box location

A

25 bases upstream from the beginning of the coding strand (aka Hogness box)
70-80 bases upstream from the beginning of the coding strand

47
Q

protein kinase regulates the activity of its target proteins by

A

phosphorylating threonine + serine residues

48
Q

promoter in prokaryotes

A

Pribnow box (-35)

49
Q

patau vs Down vs edwards according to GI manifestations

A

Down –> Hirschsprung, duodenal atresia
Patau –> omphalocele
Edwards –> Meckel’s, diverticulim

50
Q

mechanism of decreased expression of huntingtin protein in Huntington disease

A

hypo acetylation of histones

51
Q

beside the others, DOWN also increases the risk for

A

imperofrate anus, tracheoesophageal fistula, celiac disease

52
Q

Down syndrome - endocrinology + rhematology

A
  1. endocrinology: hypothyroidism, DM1, obesity

2. Rhematology: Antlantoaxial instability

53
Q

chorionic villus sampling can be performed at … (when)

A

10-14 weeks gestation (it has risks)

54
Q

CFTR modulating medications that that promote its transportation at membrane and enhance its action

A
  1. Lumacaftor (transportation)
  2. Ivacaftor (enchantment)
    IMPROVE FEV + DECREASED PULMONARY EXACERBATIONS
55
Q

other mutations that cause CF

A
  1. mutation that impairs ATP binding
  2. mutation that decreased production of normal CFTR (milder)
  3. mutation that impairs CL- conduction through CFTR
  4. mutation that cause premature termination o the protein (nonsense, frameshift) (usually seen in Askenazi)
56
Q

polycistronic mRNA

A

found in bacteria –> multiple open reading frames –> translated into several proteins
(not in human: MONOCISTRONIC mRNA –> only 1 protein)

57
Q

MCC of hair loss in both men and females / mode of inheritance

A

androgenic alopecia –> polygenic (both hormonal + genetic factors) (esp X, Y, short 20 chromosome)

58
Q

eukariotic cells initiation of translation

A
  • AUG

- Kozak consensus

59
Q

viral interference?

A

one virus inhibits replication and/or release of a 2nd virus that is infecting the same cell

60
Q

MCCC sex chrom abnormality in females? / presentation

A

47 XXX –> usually diagnosed incidentally as the carriers are NORMAL

61
Q

reverse transcriptase of human cells / function / structure

A

telomerase (RNA depended DNA polymerase

  • -> Adds TTAGGG repeats to the 3’ end of chromosomes
  • -> composed of 2 main subunits: a. telomerase reverse transcriptase subunit b. telomerase RNA compoment
62
Q

Vaginal adenosis

A

replacement of vaginal squamous epithelium with glandular columnar epithelium. it occurs in female children of women exposed to DES during pregnancy. It is a precursor of clear cell adenocarcimona of vagina

63
Q

Methanol induced blindness

A

methanol –> formic acid (alcohol dehydrogenase)

64
Q

Renal ammoniogenesesis?

A

renal tubular epithelial cells: glutamine –> glutamate + ammonium + HCO3 (in response to acidosis)

65
Q
  1. characteristic of ANA in RA

2. citrullination

A
  1. IgM
  2. tissue inflammation –> argining residues in proteins such as vimentin to citrulline –> altered shape of antigen –> immune response generation
66
Q

SnRNAs are synthesized by

miRNAs are synthesized by

A

both by RNA pol 2

67
Q

MAO enzyme - origin

A

mitochondria

68
Q

PCR vs rtPCR according to template

A

PCR: DNA
rtPCR: cDNA

69
Q

Bloom syndrome

A

rare AR –> BLM gene (helicase) mutation) –> growth retardation, facial anomalies, photosensitivity skin rash, immunodeficiency (due to ch instability + breakage)

70
Q

nuclear and mit proteins synthesis location

A

nuclear –> RER

mit –> cytoplasm

71
Q

fructose metabolism abnormalities - 1. breast milk 2. starch

A
  1. no problem because breast milk contains lactose (gal + glu) and maltose (glu + glu) (formula has sucrose)
    it does not contain lactose
  2. no problem -> starch has only glu
72
Q

McArdle disease - how to improve symptoms

A

consume sugar before exercise

73
Q

biotin deficiency - ph?

A

lactic acidosis

74
Q

rate-limiting step in the synthesis of catecholamines

A

tyrosine hydroxylase (tyrosine –> DOPA)

75
Q

raw eggs white causes biotin depletion due to

A

high levels of biotin-binding avidin

76
Q

copper reduction test?

A

detect reducing sugar (fructose, glucose, galactose) –> non specificg
(urine dipsstick –> specific specific for sugar)

77
Q

the elastic properties of elastin are due to

A

interchain cross-links involving lysine (lysil oxidase) (desmosine cross links)

78
Q

neurofibrosarcomas

A

malignant peripheral nerve sheath tumors that arise from neurofibromas

79
Q

lead poisoning - type of protoporphirin

A

zinc protoporphirin (instead of Fe2+)

80
Q

Dopamine hydroxylase deficiency

A

rare –> dysautonomia (ptosis, orthostatic hypertension, hypoglycemia, hyponatremia)

81
Q

phenylketonuria - brain hypopigmentation

A

of catecholaminergic locations:

  1. locus ceruleus
  2. substantia nigra
  3. vagal nucleus dorsalis
82
Q

enzyme with increased activity in Lench-Nuhan syndrome

A

PRPP amidotransferase

83
Q

carotene is a precursor to

A

vit A

84
Q

degradation of proteins - location

A

nuclear + cytoplasmic –> proteosome

extracellular –> lysosomes

85
Q

miRNA - mechanism

A

transcription in nucleus (pre mirna) - double strand –> cleaved into short RNA helix by ribonuclease protein (DICER) –> seperation of strands –> bind mRNA –> exact match causes mRNA degradation, partial match causes transnational represion by preventing ribosome + transcription factors to bind (posttranscriptional gene silencing)

86
Q

pellagra mediated dementia

A

due to neuronal degeneration in the brain + spinal cord, with lesions similar to those in B12 deficiency

87
Q

Arginase deficiency in urea cycle - manifestation/treatment

A

progressive diplegia, growth delay, abnormal movements (mild or no hyperammonia)
treatment: arginine-free, low-protein diet

88
Q

protein structure - bonds

A

1ry –> covalent
2ry –> hydrogen
3ry –> ionic, udrophobic, hydrogen, disulfide

89
Q

Tetrahydrobiopterin (BH4)?

A

cofactor used by hydroxylase enzymes in the synthesis of:

  1. Tyrosine
  2. Dopamine
  3. Seretonin
  4. NO
90
Q

Methoglobinemia - skin

A

cyanosis

91
Q

Methylmalonic acidema?

A

methylmalonyl-Coa mutase (AR) –> lethargy, vomiting, tachpnea

  • -> hyperammonemia, ketotic hypoglycemia, met acidosis
  • -> elevated methylmalonic acid + propionic acid
92
Q

essential fructosuria - alternative pathway for fructose metabolsim

A

fructose –> fructose 6-P (hexokinase) –> enter glycolysis

93
Q

Glutamate - glutamine cycle

A

in the astrocytes: Glutamate + NH3 –> Glutamine (glutamine synthetase)
in neurons: Glutamine –> glutamate (Glutaminase) –> releasing

94
Q

excess ammonia (eg. cirrhosis) - what happen in astrocytes?

A

increased glutamine production –> increased intracellular osm –> astrocyte swelling –> impaired glutamine release –> decreased glutamate in neurons –> disruption of excitatory neurotransmission

95
Q

leptin action

A

acts on the arcuate nucleus of hypothalamus –> inhibit production of neuropeptide Y (decreasing apetite)
also stimulate the production of POMC at the same location

96
Q

acquired obesity - leptin

A

high leptin –> receptor desensitisation

97
Q

Lac operon - genes and their function

A

z gene –> β-galactosidase –> lctose to glucose + galactose
y gene –> permease –> transmembrane enzyme –> increases permeability of the cell to lactose
a gene –> β-galactoside transacetylase (unnecessary for lactose metabolism to E-coli
(LAC operon also has promoter region + operator region + regulatory gene (repressor protein))

98
Q

cyanide poisoning - presentation

A

reddish skin discoloration, tachypnea, headache, tachycardia, nausea/vomiting, confusion, weaknes –> seirzures + cardiovascular collapse
- lactic acidosis, narrowing of venous arterial PO2 gradient

99
Q

Hers disease

A

liver glycogen phosphorylase deficiency –> hypoglycemia, ketosis, hepatomegaly

100
Q

Spinal muscular atrophy - genes

A

mutation in Survival motor neuron (SMN1) gene, which encodes a protein involved in assembly of snRNPs in LMN

101
Q

cherry red macula spot in severel sphingolipodosis - mechanism

A

loss of retinal transparency due to ganglioside buildup in ganglion cells
the center of fovea lacks ganglion cells so the underlying choroid transmits its red color

102
Q

hormone that is increased in low BH4 mediated hyperphenylanemia

A

prolactin (low dopamine production)

- even if phenylanine restriction (because BH4 is also cofactor of tyrosine hydroxylase)

103
Q

Lynch syndrome - genes (and their function)

A

mutation of methylation of:

  1. MSH2 (code MutS) –> detects mismatch
  2. MLH1 (code MutL) –> after detection –> slides along DNA
104
Q

amatoxin - symptoms, diagnosis

A

6-24h after ingestion –> abdominal pain, vomiting, severe cholera-like diarrhea that may contain blood + mucus, acute hepatic + renal faulre
diagnosis: urine test

105
Q

enzyme that contribute to ketongensis + maintains glucose level in fasting

A

hormone sensitive lipase –>

a. glycerol to glucose (glycerol kinase)
b. Fatty acids to ketone bodies

106
Q

maturity onset diabetes of the young - presentation

A

mild nonprogressive hypoglycemia that often worsens with pregnancy-induced insulin resistance –> if homozygous –> fetal growth retardation + severe hypoglycemia in birth

107
Q

Ricin?

A

from castor oil plant Rinicus commus –> potent toxin that inhibits protein synthesis by cleaving the rRNA component of the eukaryotic 60S subunit

108
Q

synchronisation of of glycogen degradation with skeletal muscle contraction occurs due to

A

release of sarcoplasimic calcium releasing –> phosphorylase kinase –> glycogen phosphorylase –> increased glyocogenolysis

109
Q

liver - ketone using for enegy

A

cannot because it lacks succinyl coa acetoacetate CoA tranferae (thiophorase) which is required to convert acetoacetate to acetoacetyl coa

Biochemistry FA (16 decks)

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