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BECOM 1 > BECOM Final (High Yield) > Flashcards

BECOM Final (High Yield) Flashcards

1
Q

Saturated hydrocarbons

A

No double bonds

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2
Q

Unsaturated

A

One or more double (or triple) bonds

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3
Q

Oxidation

A

Addition of O, N, S or removal of electrons (us. attached to hydrogen as H●)

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4
Q

Reduction

A

Addition of hydrogen (electrons) or removal of O, N, S

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5
Q

Complete oxidation yields

A

CO2 and H2O

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6
Q

Amino acid + Amin acid form

A

amide (peptide) bond

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7
Q

Zwitterion

A

molecule having separated positively and negatively charged group
ex. @ pH 7.4 carb acid ionized and amino group pronated

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8
Q

Dextrose =

A

glucose

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9
Q

sucrose =

A

glucose + fructose

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10
Q

pyranose =

A

6 carbon ring

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11
Q

furanose =

A

5 carbon ring

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12
Q

M (molarity) =

A

mol / L

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13
Q

m (molality) =

A

mol / Kg

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14
Q

Activation energy

A

amount of energy need to reach a transition state making a reaction occur

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15
Q

Four Major Biochemical Macromolecules

A

Proteins (amino acid polymer)
TAGs (lipid polymer)
DNA, RNA (nucleic acid polymer)
Polysaccharide (carbohydrate polymer)

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16
Q

anabolism and catabolism occur by

A

condensation and hydrolysis

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17
Q

ATP’s phosphate bonds are

A

Phosphoanhydride bonds

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18
Q

Substrate level phosphorylation

A

direct transfer of a phosphoryl group from one compound to ADP (or GDP)
ex. glycolysis

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19
Q

Oxidative phosphorylation (OXPHOS)

A

a process in which oxidation of carbon substrate provides reduced coenzymes. These reduced coenzymes are used to establish a proton gradient. The natural dissipation of this gradient is coupled to the production of ATP from ADP.
ex. ETC

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20
Q

Major cofactors involved in central metabolic pathway

A

NADH
NADPH
FADH2
FMNH2

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21
Q

Metabolic need for oxygen

A

Oxygen takes up H+ making a gradient for the ETC.

Final e- acceptor

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22
Q

Kwashiorkor

A

Adequate total calories with deficiency in protein content

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23
Q

Marasmus

A

Inadequate calories with respect to protein and carbohydrate

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24
Q

pyruvate -> lactate (enzyme and cofactor used)

A

pyruvate dehydrogenase (NADH -> NAD+)

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25
Q

Where does glycolysis, pyruvate oxidation of acetyl CoA, Kreb cycle, and ECT occur

A

cytosol
matrix of mitochondria
matrix of mitochondria
intermembrane space

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26
Q

Thermogenin (UCP-1)

A

acts as an uncoupler in brown adipose to provide heat

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27
Q

DNP

A

unnatural uncoupler that binds H+ in high concentration and release H+ at low concentrations

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28
Q

Rotenone
Cyanide and carbone monoxide
oligomycin

A

complex I
complex III
ATP synthase

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29
Q

Thiamine

A

B1

part of pyruvate dehydrogenase complex

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30
Q

Niacin

A

B3

component of NAD (contains part that gets reduced)

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31
Q

Pantothenic Acid

A

B5

component of CoA

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32
Q

Cobalamin

A

B12
one carbon carrier
stored in the liver

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33
Q

Absorption of B12

A
  • R-binders (gastric mucosa) bind B12 and are carried to small intestine where protease (pancreases) break down R-binders releasing B12 so intrinsic factors (parietal cells) can bind to B12 and the complex can be absorbed in the ileum
  • intrinsic factor unbinds B12 in blood where transcobalamin binds B12 and carries it to liver (storage) or other tissues (use)
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34
Q

primary protein bond

A

covalent

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35
Q

secondary protein bond

A

hydrogen

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36
Q

Tertiary and Quaternary bonds

A

hydrogen bonds, LDF, Salt bridges, disulfide bonds

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37
Q

Phosphorylation post translation modification (amino acids and why)

A

add phosphate to serine, threonine, and tyrosine

-OH group on the side chain undergoes condensation reaction with phosphate

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38
Q

Glycosylation post translation modification

A

attach N (asparagine) or O (serine threonine and tyrosine) to amino acid side chain

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39
Q

Ubiquination post translation modification

A

add ubiquitin to lysine residue of a target protein for degradation

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40
Q

Cofactor

A

An inorganic or organic molecule require by a protein for activity (e.g. Zn++)

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41
Q

Coenzyme

A

An ORGANIC cofactor (e.g NAD, FAD)

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42
Q

Prosthetic group

A

a tightly bound co-factor (e.g. Heme) that is COVALENTLY bonded

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43
Q

Forces that stabilize proteins (covalent and non covalent)

A

Covalent: disulfide

Non covalent: H bonds, Ionic (salt bridges), Hydrophobic

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44
Q

How do reducing agents denature proteins

A

they break sulfide bonds

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45
Q

Denaturing of proteins

A 
Heat
pH
Organic solvents
Detergents
Ionic Strength
Reducing agents (break disulfides)
Mechanical stress (shaking)
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46
Q

Lysosomal Protein Turnover

A

EXTRACELLULAR proteins taken into cell and shuttled to lysosome where they are broken down by proteases called CATHEPSIN (cysteine derivative)

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47
Q

The Ubiquitin-Proteosome Pathway

A

INTRACELLULAR proteins are tagged by 4 ubiquitin at a lysine residue and carried to proteasome were they are degraded and recycled
-(ATP dependent process)

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48
Q

Metabolic acidosis

A

Low pH
Low HCO3-
-Increased production of metabolic acids (eg. lactate from anaerobic respiration) (low o2) or failure to excrete acids (kidney problems)

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49
Q

Metabolic alkalosis

A

High pH

High HCO3-

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50
Q

Respiratory acidosis

A

Low pH
High CO2
-hypoventilation (shallowing breathing)

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51
Q

Respiratory alkalosis

A

High pH
Low CO2
-hyperventilating

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52
Q

Ferrous

A

2+

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53
Q

Ferric

A

3+

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54
Q

Cooperativity bindig

A

as more oxygen binds to Hb the affinity for oxygen increases (sigmoidal curve)

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55
Q

Bohr effect

A 
Higher CO2 (lower pH; tissue side) -> O2 affinity drops
-RIGHT SHIFT
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56
Q

Where does CO2 and 2,3 BPG binds on Hb

A
  • terminal amine (not heme)

- middle negative region (squeezes O2 out)

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57
Q

Haldane effect

A

high affinity for CO2 decreases when high O2 concentrations

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58
Q

why does HbF have a higher affinity for HbA

A

2,3 BPG cant bind to HbF

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59
Q

Hydroxyurea

A

medication used to induce more HbF in sickle cell pateints

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60
Q

sickle cell anemia cause

A

Glutamate (negative) -> valine (no charge)

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61
Q

Cyanosis

A

is the appearance of a blue or purple coloration of the skin or mucous membranes due to the tissues near the skin surface having low oxygen saturation.

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62
Q

Left shift and right shift in sigmoid curve caused by

A

carbon monoxide poisoning and Bohr effect

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63
Q

hydrolase

A

A + H2O -> B + C

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64
Q

Oxidoreductase

A

catalyzes oxidation or reduction reactions

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65
Q

Lyase

A

cleaves C-C, C-S, or C-N bonds

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66
Q

Transferase

A

Ax + B -> A + Bx

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67
Q

Isomerase

A

two compounds with same formula but different arrangements

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68
Q

Ligase

A

A + B -> AB

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69
Q

allosteric reg. binds

A

non covalently at a site away from active site (allosteric site)

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70
Q

Acetylcholinesterase catalytic triad

A

serine histidine and glutamate

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71
Q

Uncompetitive inhibitor

A

Inhibitor binds ES but ONLY WHEN active site is occupied by substrate.

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72
Q

Suicide inhibitor

A

bind to active site (covalently), modifying active site

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73
Q

α-amylase

A

cleaves α-1,4 linkages between glucose residues

-Product: Dextrins (linear and branched oligosaccharides)

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74
Q

Pancreatic α-amylase

A

cleaves α-1,4 linkages

- Product: dissacharides (maltose, isomaltose), trisaccharides (maltotriose), oligosaccharides (limit dextrins)

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75
Q

Sucrase-isomaltase

A

splits sucrose, maltase, maltotriose, dextrins

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76
Q

Lactase

A

hydrolyzes ß-1,4 bond of glucose and galactose

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77
Q

Sucrase

A

hydrolyzes α-1,2 bond of glucose and fructose

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78
Q

Maltose =

A

glucose + glucose

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79
Q

Lactose =

A

galactose + glucose

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80
Q

Lactose intolerance

A

Lactase Deficiency

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81
Q

Glycogen polymer form and why

A

polymer of (α1,4)-linked glucosyl units with (α1,6)-linked branches every 8-12 residues.

  • Minimizes osmotic effects of intracellular glucose
  • The highly branched structure permits rapid glucose release from glycogen stores
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82
Q

GLUT1

A

RBC

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83
Q

GLUT2

A

Liver & pancreatic B cells (insulin release)

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84
Q

GLUT3

A

Brain

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85
Q

GLUT4

A

Skeletal muscle & adipose

-insulin responsive

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86
Q

GLUT5

A

Fructose transporter in intestine luminal epithelium and sperm

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87
Q

Mutarotation

A

Beta glucose (break) Alpha glucose

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88
Q

PRPP is used in

A
  1. De novo synthesis of both purine & pyrimidine nucleotides
  2. The salvage of both purine & pyrimidine bases
  3. The synthesis of NAD from tryptophan
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89
Q

Inhibitors and activators of purine synthesis?

A

Inhibitors: AMP ADP GMP ATP GDP GTP
Activator: PRPP

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90
Q

Lesch-Nyhan Disease

A

Deficiency in HGPRTase

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91
Q

Purine synthesis

A

ribose sugar -> phosphate -> base

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92
Q

Hereditary Orotic Aciduria

A

(high level of orotic acid)

-Orotate phosphoribosyl transferase def.

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93
Q

Thioredoixin

A

UDP -> dUDP then dUMP -> dUTP through folate cycle

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94
Q

Thioredoixin

A

UDP -> dUDP then dUMP -> dUTP through folate cycle

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95
Q

phospholipase 1

A

cleave at sn1

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96
Q

phospholipase 2

A

cleaves at sn2

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97
Q

phospholipase C

A

cleaves phosphate closer to sn3

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98
Q

phospholipase D

A

Cleves phosphate closer to charged head group

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99
Q

HMG-CoA pathway

A

makes cholesterol

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100
Q

7-a-hydroxylase

A

makes bile salts out of cholesterol

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101
Q

VLDL

A

takes TAGs from liver to tissue (endogenous)

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102
Q

Chylomicron

A

take TAGs from intestine to liver (exogenous)

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103
Q

LCAT

A

in HDL takes cholesterol -> cholesteryl ester

-keeps cholesterol gradient

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104
Q

ApoCII

A

activates LPL (tags -> glycerol + FA)

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105
Q

glycerolkinase

A

take glycerol from VLDL and chylomicron to make TAG

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106
Q

acetyl CoA carboxylase

A

FAs synthesis rate limiting enzyme

-needs B7 (biotin)

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107
Q

Thromboxane

A
  • TXA2
  • promates aggregation of platelets and vasocontriction
  • COX1
  • inhibits prostacycylin
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108
Q

Prostacyclin

A
  • PGI2
  • inhibits platelet aggregation and stimulates vasodilation
  • COX2
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109
Q

Leukotrienes

A
  • mediate allergic response inflammation

- 5LOX

110
Q

NSAIDS inhibit

A

COX1/2

111
Q

Tocopherols (vitamin E)

A

stabilize lipid membrane by reacting with ROS

112
Q

Sphingolipids

A

myelin sheath lipid membrane

113
Q

Phosphatidyl Inositol

A

inositol connected to C3 of DAG (IP3 messenger -> PLC (Ca2+ release))

114
Q

Cardiolipin

A

stabilizes ETC complexes

115
Q

Depolarization

A

decrease Vm

116
Q

Hyperpolarization

A

increase Vm

117
Q

I = G (V - E)

A

Current = Conductance (Driving Force)
Driving force = membrane potential - equilibrium potential
permeability = conductance
- Na higher driving force than K

118
Q

Intracrine

A

signals are produced by the target cell that stay within the target cell. Example: secondary messengers

119
Q

Autocrine

A

signals are produced by the target cell, are secreted, and affect the target cell itself or a near by cell of the same type via a receptor. An example of this are immune cells.

120
Q

Paracrine

A

signals target cells in the vicinity of the emitting cell. E.g. neurotransmitters.

121
Q

Endocrine

A

signals target distant cells. Endocrine cells produce hormones that travel through bloodstream to reach all parts of the body. E.g. hormones.

122
Q

Juxtacrine

A

signals target adjacent (touching) cells. These signals are transmitted along cell membranes via protein or lipid components integral to the membrane and are capable of affecting either the emitting cell or cells immediately adjacent. E.g. gap (tight junctions, notch signaling, etc).

123
Q

GEF

A

GDP -> GTP

124
Q

GAP

A

GTP -> GDP

125
Q

Phosphodiesterase

A

breaks down cAMP

126
Q

RTK mutations

A
  • RTK: becomes dimerized and phosphorylated with out ligand bound
  • Overexpression: large amount of kinases in the membrane
  • Activating mutation: produce a product that mimics phosphorylation or conformational change of kinase
127
Q

kB inhibits

A

NFkB (inflammatory response)

128
Q

Philadelphia chromosome

A

BCR-ABL (ATP) complex -> phosphorylated and disassociates causing cell proliferation

129
Q

graded potential vs action potential

A
  • summation (cell body)

- all or nothing (axon hillocks)

130
Q

Conduction Velocity of the Action Potential

A

Diameter of axon
Myelination
Resistance

131
Q

2 Types of Synapses

A

-Chemical synapses use neurotransmitters (most!)
One way transmission
-Electrical synapses pass electrical signals via gap junctions.
Often both directions
Eye

132
Q

Postsynaptic Effects

A

-Alter chemically gated ion channel (open or close)
EPSP (excitatory)
IPSP (inhibitory)
-Activate 2nd messenger systems
1. Open specific ion channels on the postsynaptic membrane
2. Activation of cAMP or cGMP
3. Activation of one or more intracellular enzymes
4. Activation of gene transcription

133
Q

classic neurotransmitter inhibitors

A

GABA

glycine

134
Q

MAO

A

breaks down serotonin (5 HT)

135
Q

Choline acetyltransferase

A

makes acetylcholine out of choline + acetyl CoA

136
Q

Inactivation of Neurotransmitters

A

glial cells
enzymes break down neurotransmitters
diffuse out of synaptic cleft to blood stream

137
Q

Spatial Summation

A

net sum of inputs spatially (surface area) on the presynaptic neuron determine the level of excitability.

138
Q

Temporal Summation

A

net sum of inputs per unit of time on the presynaptic neuron determine the level of excitability.

139
Q

effect of acidosis on neuro

A

depresses neuronal activity (Na+ (in) exchanged for H+ (out))
-high H+ outside no exchange for Na+ and

140
Q

effect of alkalosis on neuro

A

increases neuronal excitability

141
Q

C peptide (insulin)

A

proinsulin contains C peptide and when C peptide is cleaved out to make mature insulin

142
Q

Fasting state AMP vs ADP

A

more AMP than ADP in fasting state because of adenylate cyclase enzyme reaction

143
Q

Adenylate cyclase

A

ADP + ADP = AMP + ATP

144
Q

Acetyl CoA carboxylase activator and inhibitor

A

activator: citrate
inhibitor: palmitoyl CoA (A CoA carb is phosphorylated)

145
Q

Where do e- leak from

A

I and III not IV

146
Q

myeloperoxidase

A

makes bleach (literally, HOCl) from H2O2 + Cl-

147
Q

NO normally involved in vasorelaxation via

A

soluble guanylate cyclase

148
Q

Constitutive isoforms

A

vasorelaxation

149
Q

Inducible isoform

A

iNOS (NOS2), in macrophages and microglia (brain macrophages)

150
Q

Nrf2/Keap1

A

Nrf2 disassociated in stress times (inc ROS) and promotes antioxidant

151
Q

Cori Cycle

A

lactic acid taken in by the liver and made back into glucose

152
Q

beriberi (Wernicke-korsakoff syndrome)

A

B1 def (a-ketoglutarat dehydrogenase)

153
Q

pelagra

A

B3 (NADH)

154
Q

Sulfonylurea

A

blocks K+ leak channels in pancreatic B cells causing depolarization and release of insulin

155
Q

Malate-Aspartate Shuttle

A

OAA -> malate in cytosol (NADH -> NAD)

Malate -> OAA in mitochondria (NAD -> NADH)

156
Q

Glycerol 3P Shuttle

A

Cytosol: DHAP -> Glycerol 3-P (NADH -> NAD+)

Mitochondrial membrane: Glycerol 3-P -> DHAP (FAD -> FADH2)

157
Q

Pyruvate Dehydrogenase Complex

A

Pyruvate -> Acetyl CoA

  • Irreversible reaction
  • occurs in mitochondrial matrix
  • releases CO2
158
Q

Pyruvate Dehydrogenase Complex uses 5 cofactors

A

TPP (B1), lipoate, FAD (B2), NAD+ (B3), and CoA (B5)

159
Q

When energy level of the cell is high or oxygen is lacking, PDC activity is

A

turned off

160
Q

pyruvate carboxylase

A

pyruvate -> OAA

  • occurs in mitochondria
  • requires CO2 (biotin)
161
Q

Acetyl CoA effect on PDH and Pyruvate carboxylase

A

(- PDH)

+ pyruvate carboxylase

162
Q

von Gierke disease

A

Glucose 6-phosphatase deficiency

-glycogen stuck in the liver

163
Q

Glycogenesis enzyme

A

synthesis of glucagon

-glycogenin

164
Q

glycogenolysis

A

Glycogen degradation

165
Q

Sympathetic Innervation Only (non-dually innervated)

A
  • Arteriolar smooth muscle – blood pressure
  • Kidney – body fluid balance and blood pressure
  • Sweat glands
  • Adipose (lipolysis)
  • Clotting
166
Q

alpha 1

A

Smooth muscle contraction (NE>EPI)

167
Q

alpha 2

A

Also presynaptic inhibition of NE release (NE>EPI)

168
Q

beta 1

A

Cardiac, renin release from kidney, lipolysis (NE=EPI)

169
Q

beta 2

A

Smooth muscle relaxation (EPI» NE)

170
Q

Sympathetic Branch: Stimulation

A 
Pupil dilation (mydriasis)
Dry mouth
Sweat production 
Increased heart rate & force of contraction
Bronchiole dilation
Fuel mobilization (glucose, lipolysis)
Blood vessel constriction
Coagulation
Ejaculation/orgasm
171
Q

Sympathetic Branch: Inhibition

A 
Increased digestion
Pancreas secretion
Urination
Slow heart rate
Reduce blood pressure
172
Q

Adrenal Medulla Primary neurotransmitter

A

Epinephrine (80%)

NE 20%

173
Q

Parasympathetic Branch: Actions

A 
Digestion
Salivation
Insulin release
Urination
Erections (arousal)
174
Q

what does the vagus nerve not innervate

A

eye

175
Q

Organophosphate poisoning causes

A

S.L.U.D.G.E.(M)

-Salivation, lacrimation, urination, defecation, gastrointestinal, emesis, muscle spasm/miosis (pinpoint pupil)

176
Q

Parasympathetic Branch: Inhibition

A

Inhibit digestion
Reduces secretory functions (dry mouth)
Increases heart rate

177
Q

stress sweat gland vs thermoregulation sweat gland

A

stress: alpha 1
thermo: muscarinic

178
Q

alpha 1 g protein cascade

A

inc IP3/DAG -> inc Ca2+ ->vasoconstriciton

179
Q

beta 1

A

inc cAMP -> inc HR

-key to increase HR

180
Q

Inc. NE (bp)

A

Inc. bp (more alpha than beta but beta has higher affinity for NE)

181
Q

Dec. NE (bp)

A

Dec. bp (more alpha than beta but beta has higher affinity for NE)

182
Q

b stimulation to lung and heart

A

bronchodilation

inc HR

183
Q

Helicase

A

separates the helix by breaking the hydrogen bonds between complementary bases

184
Q

SSBP

A

prevent reannealing of the duplex

185
Q

Topoisomerase

A

prevents supercoiling

186
Q

Primase

A

lays down the RNA primer

187
Q

DNA Pol I

A

replaces the RNA bases of the primer with DNA bases

188
Q

Ligase

A

facilitates the formation of phosphodiester bonds and joins Okazaki fragments.

189
Q

shelterin

A

protein complexes that specifically bind to telomeric DNA repeats and protects them from being recognized by DNA repair proteins

190
Q

exonuclease activity

A

-3’-to-5’
-Replication errors produce a DNA mismatch and inability of the mismatched bases to form the appropriate H bonds
This leads to displacement of the 3-OH into the 3-to-5 exonuclease “site” of the enzyme

191
Q

MYH glycosylase

A
  • Base excision repair

- Damaged base is recognized and cleaved leaving a sugar with no base attached in the DNA

192
Q

Poly-ADP-ribose polymerase (PARP)

A

binds to the strand break and recruits other repair proteins.

193
Q

Nucleotide Excision Repair is used to fix

A

UV radiation thymine dimers

194
Q

Nonhomologous End Joining occurs in what type of cell

A

non dividing

195
Q

Homologous Recombination Repair occurs in what type of cell

A

actively dividing

196
Q

HATs vs HDAC

A

transfer ACoA to lysine removing lysine

pos. charge (DNA unwind)

197
Q

Methylation

A
  • This favors the incorporation of DNA into heterochromatin (tightly packed, no transcription)
  • associates with the 6’ carbon of cytosine and adds a methyl group to the 5’ carbon
  • can be passed down
198
Q

Heat shock protein

A

cortisol has higher affinity for glucocorticoid receptor than HSP
-TAD binds coactivators, DBD binds the hormone response element of the DNA, ultimately leading to transcriptional activation of response genes

199
Q

eIF3 and reg

A

prevents premature association of 40S and 60S subunits

-inactive when phosphorylated (times of stress)

200
Q

eIF2-GTP

A

binds to initiator tRNA

201
Q

eIF4 and reg

A

bound to mRNA join 40S subunit

-activated by insulin

202
Q

Peptidyl transferase

A

catalyzes peptide bond formation between amino acids attached to tRNAs at the P and A sites, elongating the polypeptide and transferring it to the tRNA at the A site

203
Q

eEF2

A

translocates the ribosome, moving it three nucleotides toward the 3’ end of the mRNA

204
Q

stop codons

A

UAA, UAG, UGA

205
Q

Release factors (RF)

A

bind a stop codon in the A site

206
Q

Tetracyclines, including doxycycline

A

prevent the binding of aminoacyl-tRNA by blocking the A (aminoacyl) site of the 30S ribosome

207
Q

Aminoglycoside antibiotics (Streptomycin Kanamycin and tobramycin)

A

have an affinity for the 30S ribosome subunit

208
Q

Erythromycin, roxithromycin, and clarithromycin

A

all prevent elongation at the transpeptidation step of synthesis by blocking the 50S polypeptide export tunnel

209
Q

Lincomycin and clindamycin

A

are specific inhibitors of peptidyl transferase

210
Q

Diphtheria toxin

A

inactivate eukaryotic elongation factor eEF2, thereby inhibiting eukaryotic protein synthesis

211
Q

Proto-oncogenes mutations

A

Mutation in coding region
Regulatory region
Translocation  novel protein
Gene amplification

212
Q

BAD

A
  • proapoptotic

- phos by Akt (inactive)

213
Q

P53 and stimulates

A

gardian of the genome
-stimulates p21 is a universal cyclin/cdk inhibitor (CKI), it prevents the phosphorylation of Rb, keeping Rb bound to E2F

214
Q

Rb

A

sequesters the transcription factor E2F

  • Ras/Raf leads to induction of transcription of cyclin D
  • Cyclin D binds to CDK4/6
  • Cyclin D/CDK4/6 phosphorylates Rb
  • Rb changes conformation and releases E2F
215
Q

MDM2

A

tags P53 for degradation when DNA is successfully repaired

216
Q

BAX

A

stimulated by P53 and causes apoptosis

217
Q

β-catenin and APC

A

APC bind β-catenin causing APC degradation

-when not bound to APC β-catenin catenin translocates to the nucleus and activates transcription of myc and cyclin D

218
Q

Autosomal Recessive Inheritance

A
  • The disease is not usually seen in each generation, but if an affected child is produced by unaffected parents, the risk to subsequent children is ¼
  • The sex ratio of affected offspring is expected to be equal
  • If both parents have the disorder, all children will have it
219
Q

Autosomal Dominant Inheritance

A
  • Each individual who has the disease has at least one affected parent
  • Fathers can give to DAUGHTERS and SONS
  • Males and females are affected in equal numbers
220
Q

Huntington’s disease is

A

Autosomal Dominant Inheritance

-late onset

221
Q

Xeroderma pigmentosum is

A

Autosomal Recessive Inheritance

222
Q

Hemophilia A is

A

X-linked Recessive Inheritance

223
Q

X-linked Dominant Inheritance

A

Males cant pass X linked trait to son

but all daughters will be effected

224
Q

Congenital hypertrichosis is

A

X-linked Dominant Inheritance

225
Q

Mosaics

A

is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells
-effects child but not parent

226
Q

Apical epidermal ridge

A

Initiates proximally, grows distally
Proximal elements (humerus, femur) form before distal elements (radius/ulna, tibia/fibula)
-secretes FGF8, FGF4
-problem limb will grow in wrong place

227
Q

paraxial mesoderm

A

All axial and appendicular skeletal muscles, and all of the skeleton except the cranium

228
Q

surface ectoderm

A

Limb skin, hair, skin glands, and nails

229
Q

Wnt mutations can cause

A

osteogenesis imperfecta

230
Q

Zone of Polarizing Activity (ZPA)

A

-Determines A-P axis of limb bud
-Sonic hedgehog (Shh or SHH) is strongly expressed at the ZPA
-

231
Q

Upper limb rotates

A

dorsally (laterally)

-week 8

232
Q

Lower limb rotates

A

ventrally (medially)

233
Q

Week 5 Week 6 Week 7 Week 8

A

Week 5: limb bud and plate
Week 6 notches between webbed fingers
Week 7: short fingers slightly webbed
Week 8: fingers and toes separated

234
Q

blood supply to growing arm

A

axial artery

235
Q

Meromelia

A

Can be caused by HOX mutations

236
Q

Synaptotagmin

A

binds Ca2+

237
Q

Synaptobrevin

A

bound to vesicle

238
Q

RYR1 receptor

A

found in skeletal muscle SR

-DHPR bound to RYR

239
Q

RYR2 receptor

A

found in cardiac muscle SR

240
Q

Twitch vs Treppe

A

-single stimulation of a muscle fiber
-staircase increase in muscle contraction as more and muscle fibers are stimulated
increase in force produced with each contraction

241
Q

Tetanus vs tetany

A

tetanus is fatigue caused by bacteria while tetany is fatigue caused by excursion

242
Q

Longer muscle length

A

greater velocity and less force

243
Q

Shorter muscle length

A

less velocity and greater force

244
Q

Slow vs Fast twitch

A

Slowest Type 1 < Type 2a < Type X < Fastest Type 2b

245
Q

Greatest tension (force) occurs between

A

100-120%

246
Q

myosin light chain phosphatase

A

removal of phosphate from myosin light chain and
resulting decreases in actin-myosin
cross bridging

247
Q

myosin light chain kinase

A

phosphorylates myosin during SM contraction

248
Q

Cardiac Muscle force electrical carried via

A 
Desmosomes allow force to be transferred
Gap Junctions (connexions) provide electrical connection
249
Q

preload

A

inc length of muscle = inc preload

250
Q

afterload

A

inc after load = dec contractility

251
Q

contractility

A

NE and EPI: inc contractility

Ach: dec contractility

252
Q

Vernix caseosa

A

Periderm cells and sebum make up

-protect baby from abiotic fluid

253
Q

fingerprints

A

Epidermal ridges produce grooves

254
Q

Ichthyosis

A

Skin is characterized by dryness and fishskin-like scaling (lizard)

255
Q

what all are associated with the hair follicle

A
  • sebaceous gland

- appocrine sweat glands (axilla and pubic)

256
Q

Eccrine sweat glands

A

alone sweat gland

257
Q

lanugo hairs

A

Help hold vernix caseosa on the skin, which protects the skin

258
Q

Alopecia

A

bald spot

259
Q

lamellar granules

A
  • Their water-resistant glycolipid slows water loss

- in stratum granulosum

260
Q

Skin physical barrier

A

resistance to mechanical stress and absorption/evaporation of substances (water)
-Keratin and glycolipids block most water and water- soluble substances

261
Q

skin Chemical Barriers

A 
-Skin secretions 
Low pH retards bacterial multiplication
Sebum and defensins kill bacteria
-Melanin
Defense against UV radiation damage
262
Q

Skin Biological Barriers

A 
-Dendritic cells of epidermis
Present foreign antigens to white blood cells 
-DNA
Its electrons absorb UV radiation
Radiation converted to heat
263
Q

↑ Body Core temp

A

Thermoreceptors in hypothalamus (primary driver) and skin (secondary) respond -> ↑ cholinergic stimulation -> vasodilation of blood vessels in dermis

264
Q

↓ Body temp

A

Thermoreceptors in hypothalamus (primary driver) and skin (secondary) respond -> ↑ adrenergic stimulation -> vasoconstriction of blood vessels in dermis

265
Q

type I keratin

A

acidic keratins (contain acidic acids)

266
Q

type II keratin

A

basic keratins (contain basic amino acids)

267
Q

Transglutaminase

A

lysine + glutamine forms amide bond

  • gives structural stability to keratins int. filaments
  • doesn’t just happen in keratin
268
Q

tyrosine hydroxylase

A

enzymes used to convert tyrosine to melanin

-Cu2+ dependent

269
Q

phenylalanine hydroxylase

A

phenylalanine -> tyrosine (BH4 dependent)

270
Q

Melanin production

A

P53 -> POMC -> B endorphins and a MSH (MC1R) -> inc cAMP -> MITF -> pigments

BECOM 1 (4 decks)

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