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M2M Final Exam > Learning Objectives > Flashcards

Learning Objectives Flashcards

1
Q

What is free energy?

A

the amount of work that can be extracted from a system

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2
Q

________ has the highest reduction potential

A

oxygen

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3
Q

4 types of kinetic energy

A
  • radiant
  • electric
  • thermal
  • mechanical
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4
Q

Potential energy is stored in … (4)

A
  • redox pairs
  • chemical bonds
  • concentration gradients
  • electric fields from charge separation
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5
Q

Equation relating electric potential and free energy

A

deltaG = -nFdeltaE

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6
Q

High energy phosphate bonds

A

P-O-P (ATP)
P-N (phosphocreatine)
C-O-P (phosphoenolpyruvate)

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7
Q

Solubility of nucleotide components

A

least to most: bases, nucleoside, nucleotide

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8
Q

Factors that affect Tm

A
  • G-C ratios
  • concentration
  • pH
  • chain length
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9
Q

Methods for attacking DNA metabolism

A
  • synthesis of precursors (dNTPs)
  • intercalation
  • covalently binding base pairs
  • topoisomerase
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10
Q

Eukaryote leading and lagging strand polymerases

A

leading strand: pol epsilon

lagging strand: pol delta

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11
Q

Diseases from mutations in DNA repair mechanisms

A
  • Cockanye’s syndrome

- xeroderma pigmentosum

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12
Q

mutations in mismatch repair lead to ___________

A

Lynch Syndrome (hereditary non-polyposis colorectal cancer)

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13
Q

Components of the RNA Polymerase II Pre-Initiation Complex (4)

A
  • RNA Pol II
  • TATA box binding proteins
  • general transcription factors
  • mediator
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14
Q

What does TFIIH do?

A

facilitates nucleotide excision repair (adds PO4 to C-terminal domain of Pol II and acts as a helicase to open DNA strands

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15
Q

__________ recognizes the 5’ cap of mRNA for transport to the ribosome

A

translation factor elf4e

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16
Q

If a transcript has a 5’-methyl-G cap, it was made by ________

A

RNA Pol II

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17
Q

Steps for adding a 5’-cap to a pre-mRNA

A
  • triphosphatase
  • guanylyltransferase
  • guanine-7-methyltransferase
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18
Q

Genetic diseases caused by splicing defects

A
  • Marfan’s syndrome (fibrillin gene)

- spinal muscular atrophy (exon 7)

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19
Q

Reactions that make the mature 3’-end of mRNA

A

cleavage and polyadenylation

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20
Q

Poly-A tail is necessary for RNA polymerase complex to _____________________

A

detach from DNA (termination)

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21
Q

Hemophilia B Leyden

A
  • X-linked disease that affects clotting (reduced factor IX gene)
  • gets better at puberty because androgen receptor becomes active (binds overlapping sites at promotor)
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22
Q

4 major families of sequence-specific DNA binding proteins

A
  • homeodomain (helix-turn-helix)
  • zinc finger
  • basic leucine zipper
  • basic helix-loop-helix
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23
Q

Give an example of a disease where histone acetylation is altered

A

Rubinstein-Taybi syndrome (mutation in copy of CREB-binding protein gene; loss of HAT activity)

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24
Q

heterochromatin is mostly (hypo/hyperacetylated)

A

hypoacetylated (transcriptionally inactive)

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25
Q

Ways to regulate sequence-specific DNA-binding proteins

A
  • control protein conformation by binding a ligand
  • regulate entry into nucleus
  • regulate amount of transcription factor in cell
  • regulate binding to DNA
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26
Q

ways to control level of gene expression

A
  • control mRNA export from nucleus
  • control mRNA degradation
  • control efficiency of translation
  • control protein degradation
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27
Q

bacterial translation

A
  • IF1 and IF3 bind to 30S subunit
  • mRNA binds 30S subunit using Shine-Delgarno sequence
  • IF2 delivers “initiator” tRNA to P-site to pair with AUG
  • GTP hydrolysis releases initiation factor and binds 50S subunit
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28
Q

eukaryotic translation

A
  • elf4E binds to 7-methyl guanosine cap on 5’ end of mRNA
  • binding of other elFs and small ribosomal subunit
  • large subunit joins, factors are released
  • scanning through 5’ UTR to get to AUG so 5’ UTR can influence rate of process
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29
Q

What happens with IRE-BPs in high iron conditions?

A

IRE-BP’s are bound to FE, can’t bind IRE RNA

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30
Q

What happens with IRE-BPs in low iron conditions?

A

IRE-BP’s are not bound to FE, bind to IRE RNA, allowing synthesis of transferrin receptor

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31
Q

hydrophobic amino acids

A

glycine, alanine, valine, leucine, methionine, isoleucine, tryptophan, phenylalanine, proline

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32
Q

polar, uncharged amino acids

A

threonine, serine, cysteine, proline, asparagine, glutamine

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33
Q

polar, positively charged amino acids

A

histidine, lysine, arginine

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34
Q

polar, negatively charged amino acids

A

aspartate, glutamate

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35
Q

non=-polar aliphatic amino acids

A

glycine, alanine, valine, leucine, methionine, isoleucine

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36
Q

aromatic amino acids

A

tyrosine, tryptophan, phenylalanine

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37
Q

Bohr effect

A

pH difference causes different binding affinities

  • high pH: high O2 binding (in lungs)
  • low pH: low O2 binding (in tissue)
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38
Q

PCR is a good diagnostic test for…

A
  • CF
  • beta thalassemia
  • Tay-Sachs
  • HLA typing
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39
Q

plasmids

A

vectors for amplifying DNA sequences in bacteria

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40
Q

criteria during analysis of next-generation DNA sequencing data for SNP identification

A
  • error rate
  • coverage
  • ploidy needs enough coverage to determine heterozygosity
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41
Q

competitive inhibition increases ______

A

Km

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42
Q

uncompetitive inhibitions lowers _____ and changes the apparent _____

A

Vmax, Km

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43
Q

mixed inhibition affects both _____ and ______

A

Vmax, Km

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44
Q

A good way to delay or prevent onset of Alzheimer’s would be to decrease ___________

A

beta-secretase

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45
Q

Minisatellites have _______ and are ___-rich

A

variable number tandem repeats, GC

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46
Q

Microsatellites have ______ and are ____-rich

A

short tandem repeat polymorphisms, CA

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47
Q

Euchromatin is (more/less) acetylated than heterochromatin

A

more

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48
Q

Tandem repeats are the basis for ____________

A

cytogenetic banding

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49
Q

Tandem repeats are found on chromosomes _________

A

1, 9, 16, Y

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50
Q

What is mosaicism?

A

an aberrant process in which cells with two different genetic complements are produced during mitosis after the zygote has already formed

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51
Q

What is the most common contiguous gene syndrome in humans?

A

DiGeorge’s Syndrome (absent or hypo plastic thymus and parathyroids, congenital heart disease)

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52
Q

What tests are done in the first trimester to check for chromosomal abnormalities?

A
  • ultrasound measurement of nuchal folds
  • B-hCG
  • PAPP-A
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53
Q

What tests are doing in the second trimester to check for chromosomal abnormalities?

A
  • B-hCG
  • unconjugated estriol
  • inhibin levels
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54
Q

How does x-chromosome inactivation work?

A

DNA methylation and modification of histones:
-XIST on inactive X transcribes RNA that spreads across X chromosome to coat it, modifying genomic structure to attract DNA methylators and HDACs

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55
Q

SRY gene and SOX9 lead to production of __________

A

anti-mullerian hormone

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56
Q

FGF9 leads to _____________________

A

differentiation of the testes

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57
Q

Androgen leads to development of the… (3)

A
  • penis
  • scrotum
  • urethral opening of penis
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58
Q

5-alpha reductase deficiency

A
  • XY
  • autosomal recessive
  • can’t convert testosterone to dihydroxytestosterone
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59
Q

46, XY: deletion of SRY is phenotypically ___________

A

female

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60
Q

46, XX: ectopic presence of SRY is phenotypically _________

A

male

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61
Q

Denys-Drash and Fraiser Syndrome involve sex reversal with 46 (XX/XY) and a mutation in ______

A

XY, WT1 gene (transcription factor for SRY)

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62
Q

A common symptom of Gaucher disease is __________

A

hepatosplenomegaly

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63
Q

In Gaucher disease, glucocerebrosidase activity is less than ____%

A

30%

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64
Q

Inheritance of Gaucher is ________________

A

autosomal recessive

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65
Q

Candidate gene association studies are best for _________________

A

common risk alleles with small to moderate effects

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66
Q

Genome wide association studies are best for ___________________

A

common alleles with small to moderate effects

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67
Q

Genetic linkage studies are best for _______________

A

uncommon alleles with strong effects in families

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68
Q

Three most commonly used types of DNA polymorphisms

A
  • microsatellites
  • SNPs
  • CNVs
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69
Q

manifestation of PKU

A

hyperactivity, epilepsy, intellectual disability

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70
Q

PKU has (high/low) allelic heterogeneity

A

high

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71
Q

alpha-1 antitrypsin deficiency

A

inherited disorder, causes lung and liver disease

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72
Q

What enzyme is the primary target for alpha-1 antitrypsin deficiency?

A

elastase (a serum protease)

-alpha-1 antitrypsin inhibits elastase by irreversible binding so if it’s deficient, elastase breaks down elastin

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73
Q

Tay-Sachs Disease

A

destroys nerve cells in brain and spinal cord (CNS)

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74
Q

Tay-Sachs has a defect in the ability to get rid of ______________

A

ganglioside (defective HexA needed to metabolize GM2)

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75
Q

Alpha globin genes are located on chromosome ___ and beta globin genes are located on chromosome ____

A

16, 11

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76
Q

alpha globin cluster

A

zeta-alpha1-alpha2

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77
Q

beta globin cluster

A

epsilon-gamma G-gamma A-delta-beta

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78
Q

sickle cell amino acid change

A

glutamate to valine (A to T)

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79
Q

HbC amino acid change

A

glutamate to lysine

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80
Q

What are the two types of mutations known to cause hereditary persistence of fetal hemoglobin?

A
  • large deletions (bring downstream enhancer closer to beta locus than gamma)
  • promotor mutations destroy binding site of a repressor, relieving postnatal repression of gamma
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81
Q

clinical features of beta thalassemias

A
  • dense skull/marrow expansion
  • enlarged spleen
  • osteopenia
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82
Q

Achondroplasia has ___% penetrance

A

100%

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83
Q

achondroplasia

A
  • missense mutation of FGFR3 (gly to arg)

- gain of function (increases activity of protein interfering with skeletal development)

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84
Q

neurofibromatosis type I has a __________ mutation

A

loss of function (of a tumor suppressor gene)

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85
Q

tuberous sclerosis

A
  • Autosomal dominant

- skin abnormalities, renal cysts, seizures, cognitive impairments, ADHD, autism

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86
Q

Tuberous sclerosis exhibits ________ penetrance and ________ expressivity

A

full, variable

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87
Q

Tuberous sclerosis has a __________ mutation on chromosomes ___ and ___

A

loss of function; 9,16

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88
Q

Osteogenesis imperfecta exhibits __________ expressivity

A

variable

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89
Q

clinical features of fragile x syndrome

A
  • moderate intellectual disability with dysmorphic facial features
  • autistic behavior, hand flapping
  • aggression
  • long face, large ears
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90
Q

X-linked dominant diseases

A

Fragile X, Rickets, Rett Syndrome

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91
Q

Lesch-Nyhan syndrome

A
  • overproduction of uric acid (HPRT1 gene, recycling purines)
  • X-linked recessive
  • cerebral palsy
  • self-injury
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92
Q

diseases of mitochondrial inheritance

A
  • Kearns-Sayre syndrome: somatic mutation, single large deletion, eye paralysis, heart disease
  • MELAS: mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (stroke, seizures, muscle weakness)
  • MERRF: myoclonic epilepsy with ragged-red fibers (muscle symptoms, seizures, dementia)
  • Leber Hereditary Optic Neuropathy
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93
Q

characteristics of epigenetic phenomena (4)

A
  • different gene expression pattern/phenotype, identical genome
  • inheritance through cell division (even generations)
  • like a switch (on/off)
  • erase-able (interconvertible)
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94
Q

methylation only occurs on ___________

A

cytosine

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95
Q

diseases with loss of function mutation

A
  • Duchenne muscular dystrophy (nonsense, frameshift)
  • HNPP (deletion of gene)
  • osteogenesis imperfecta type I (nonsense, frameshift)
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96
Q

diseases with gain of function mutation

A
  • Hb Kempsey (missense)

- charcot marie tooth (duplication of PMP22)

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97
Q

8 steps where mutation can disrupt production of a normal protein

A
  • transcription (thalassemia, HPFH)
  • translation (thalassemia)
  • polypeptide folding (hemoglobinopathy)
  • post-translational folding (l-cell disease)
  • assembly of holomeric protein (osteogenesis imperfecta)
  • localization of polypeptide or holomer (familial hypercholesterolemia)
  • co-factor or prosthetic group binding (homocystinurea)
  • function of correctly folded protein (Hb Kempsey)
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98
Q

Fragile X syndrome consists of FXTAS triple repeats in the ___________

A

5’-UTR

99
Q

During M phase of the cell cycle, (high/low) CDK (prevents/allows) buildup of the pre-replication complex

A

high, prevent

100
Q

During S phase of the cell cycle, (high/low) CDK (prevents/allows) buildup of the pre-replication complex

A

low, allow

101
Q

functions of epithelial tissues

A
  • barrier to microorganisms and toxins
  • selective transport into and out of body
  • biochemical modification of molecules and metabolites
  • special reception of stimuli
  • self-renewal
102
Q

What do desmosomes/adherence junctions regulate?

A

tightness of specific cell junctions

103
Q

Hemidesmosomes contain __________ that provide membrane attachment to epithelia and connect __________ to ____________

A

integrins; connective tissue, the lamina

104
Q

Focal adhesions connect basal lamina to ___________

A

intracellular components inside epithelial cells

105
Q

One regulatory protein of epithelial stem cells is ______

A

wnt

106
Q

Wnt inhibits ____________ by binding at the cell surface and setting off a signaling cascade

A

differentiation

107
Q

Name the two most common pathogens in CF lungs

A
  • staph

- pseudomonas

108
Q

Without CFTR, cells have elevated levels of import of ____ into epithelia

A

Na+

109
Q

Ivacaftor is a CFTR _________ for people with at least one G551D mutation

A

potentiator

110
Q

Lumacaftor/ivacaftor is a CFTR _________ and _________ for people with two copies of _______ mutation

A

corrector, potentiator; F508del

111
Q

Motile cilia are …

A
  • multiciliated

- differentiated

112
Q

Sensory cilia detect _________ stimuli

A

physical (mechanical strain, temperature, osmolality, gravity), light, and chemical

113
Q

____ ligand binds to patched, extrudes it from the cilium, allowing for __________ protein to activate the GLE transcriptional activator

A

hedgehog, smoothin

114
Q

The hedgehog ligand contributes to _________ and _________ formation and neurogenesis

A

limb, bone

115
Q

Bardet-Biedl syndrome has a problem with _______________

A

ciliary-trafficking (transport problem)

116
Q

Lymphocytes make __________ when activated

A

antibodies

117
Q

What is the function of myofibroblasts?

A

exert pressure on an area to restrict blood loss and close a wound; die after wound heals

118
Q

Chondrocytes form from _________ and secrete _____________

A

mesenchymal cells, cartilaginous ECM

119
Q

The chondrocytic matrix is covered with ____________

A

perichondrium

120
Q

Hyaline cartilage is made of ___________ and _______ that promote hydration and flexibility

A

proteoglycans, GAGs

121
Q

Two processes that lead to bone formation

A
  • intramembranous ossification (directly from mesenchymal cells)
  • endochondrial ossification (template cartilaginous bone)
122
Q

Osteoporosis leads to a decrease in _________ due to a defect in _________________

A

bone mass, resorption/formation coupling

123
Q

Rickets cause an abnormal increase in ____________ by interfering with mineralization

A

uncalcified osteoid

124
Q

The tunica intima is made mostly of _________________

A

stratified squamous epithelium

125
Q

The tunica media and tunica adventitia are made largely of _____________

A

smooth muscle, collagen

126
Q

The tunica intima of elastic arteries is made largely of…

A
  • endothelial cells
  • fibroblasts
  • connective tissue
127
Q

A portal system goes from _____________ to _______________

A

capillary bed, capillary bed

128
Q

Titin connects the _______ to the _______ in the sarcomere

A

Z line, M line

129
Q

Epimysium surrounds a _________

A

muscle

130
Q

Perimysium is a connective tissue that surrounds __________

A

each muscle fascicle

131
Q

Endomysium is a connective tissue that surrounds and invests __________

A

muscle cells

132
Q

How is skeletal muscle tension graded?

A
  • frequency of APs fired

- number of motor units recruited for contraction

133
Q

What are satellite cells?

A

specialized stem cells that produce new skeletal muscle cells (instead of replacing cells, they fuse to form larger muscle fibers - good to build muscle when exercising)

134
Q

How is cardiac and smooth muscle tension graded?

A
  • cell length

- neurotransmitter/hormone receptor activity

135
Q

Hedgehog signaling leads to…

A
  • limb formation
  • bone formation
  • neurogenesis
136
Q

Bardet-Biedl proteins faciliate…

A

vesicle transport to and within the cilium (receptor transport)

137
Q

Fibrillars

A

interact end-to-end and bundle together to form fibers

138
Q

fibril-associated collagens

A
  • attached to fibrillars

- connect to basal tissue, underlie epithelium

139
Q

network-forming collagens

A

-form thin sheet networks inside basal lamina

140
Q

Osteoclasts derive from…

A

monocytes in the blood that differentiate

141
Q

Parathyroid stimulates Ca _______ and bone _________

A

release, resorption

142
Q

Calcitonin stimulates Ca ________ and bone _________

A

decreased Ca release, deposition

143
Q

_____________ of the myosin light chain controls the actin-myosin interaction in smooth muscle

A

phosphorylation

144
Q

T/F: Smooth muscle lacks both a tropomyosin complex and t-tubule system

A

true

145
Q

You see a young, healthy athlete with a murmur and personal/family history of sudden cardiac death. You suspect…

A

hypertrophic cardiomyopathy

146
Q

Myostatin is normally made and secreted by muscles as a (positive/negative) feedback for muscle growth

A

negative

147
Q

Malignant hyperthermia is a __________ disorder

A

dominant

148
Q

Malignant hypothermia has a(n) ______ mutation

A

RyR1

149
Q

If a patient in surgery has masseter spasms and hyperthermia, you should think about _____________

A

malignant hyperthermia

150
Q

If a patient has malignant hyperthermia, you should give them _____________

A

dantrolene

151
Q

In classic DMD, cardiomyopathy is seen in ________ cases by age 18

A

most/all (close to 100%)

152
Q

Elastin is secreted by __________

A

fibroblasts

153
Q

50% of non-small cell lung cancers are ____________

A

adenocarcinomas

154
Q

What genes are commonly mutated in hypertrophic cardiomyopathy?

A

sarcoplasmic genes

155
Q

What is the mechanism for increasing muscle length?

A

recruiting myoblasts and increasing number of nuclei

156
Q

Roles of mitochondria in cell death (4)

A
  • generate ROS
  • regulate cytosolic Ca
  • supply energy to the cell
  • release cytochrome c
157
Q

Cilia contain (actin/microfilaments/microtubules)

A

microtubules

158
Q

______ cleaves the two cells in half during mitosis

A

actin

159
Q

Connective tissue is (loose/tight)

A

loose

160
Q

Components of connective tissue

A
  • collagen
  • elastin
  • fibroblasts
  • proteoglycans
  • GAGs
  • lymphocytes
161
Q

Epithelia have (big/small) nuclei

A

big

162
Q

The nuclei of lymphocytes stains (light/dark) because…

A

dark; the chromatin is compact

163
Q

The nucleus of fibroblasts is…

A

flat, long, isolated

164
Q

The CT skin dermis contains (high/low) cell density and (light/dark) nuclei stain

A

low, light

165
Q

The CT of the small intestine has (high/low) cell density and (light/dark) nuclei stain

A

high, dark

166
Q

Calcified bone has a _________ stain

A

dense

167
Q

Osteocytes are embedded in a _________

A

lacunae

168
Q

Osteoclasts have ___ nuclei, (dark/light) stain, and are (large/small) cells

A

2+, dark, large

169
Q

Skeletal muscle have ___ nuclei located _________ and stains _______

A

2, on the periphery, light

170
Q

Causes of down syndrome (3)

A

95% trisomy 21
3-4% Robertsonian translocation
1% mosaicism

171
Q

High __________ heterogeneity in patients with beta thalassemia means that most people are _____________________

A

allelic; compound heterozygotes

172
Q

Fis1 and Drp are used for ___________

A

fission

173
Q

Mfn and OPA1 are used for _________

A

fusion

174
Q

How is the ATP transported out of the mitochondria once made?

A

via ATP-ADP antiporter

175
Q

___________ tissues are avascular

A

epithelial

176
Q

Key proteins of tight junctions are ________ and __________

A

occludins, claudins

177
Q

Adherence junctions link _______________ and other adapter/signaling proteins in the cytoplasm

A

actin filaments

178
Q

Desmosomes contain cadherins that like to _____________ and other adapter proteins

A

intermediate filaments

179
Q

Epithelial cells directly connect to basal laminae by attachment of ___________ and _________ on the basal surface of the epithelial cell to basal lamina

A

hemidesmosomes, focal adhesions

180
Q

Homozygous dominant inheritance for achondroplasia is ___________

A

lethal

181
Q

Genetic linkage studies assume that multiplex families…

A

share genome segments that are disproportionately co-inherited

182
Q

Multiple testing corrections must be included for ____________________

A

gene association studies

183
Q

What markers are typically used in genetic linkage studies?

A

microsatellites

184
Q

The first test confirming diagnosis of PWS is __________________

A

methylation testing

185
Q

In Huntington’s, what is the significance of excessive repeated sequences?

A

formation of a novel property toxic protein

186
Q

A patient with alpha-thalassemia major produces ______ and ______ but no _________

A

Bart’s hemoglobin, HbH; fetal Hb

187
Q

recurrence risk of having a child with Trisomy 21

A

1/100 + age-related risk

188
Q

FISH can determine ____________

A

karyotype (ie: amniocentesis + FISH for trisomy 21)

189
Q

When a disease is rare, you can assume that 2pq estimates ____

A

2q

190
Q

Paternal error in meiosis I results in __________ and paternal error in meiosis II results in ___________

A

XXY, XYY

191
Q

Pharmacogenetics is the _____________________

A

examination of individual alleles and their differences

192
Q

When in the cell cycle are CDK levels high?

A

S and M phases

193
Q

The large subunit of a ribosome contains the _________

A

peptidyl transferase center

194
Q

ATP contains a _____________ bond

A

phosphoanhydride

195
Q

DNA polymerase cannot initiate synthesis of new strands of DNA without _____________

A

an RNA primer

196
Q

RNA primers are removed by __________ pol I

A

5’-3’

197
Q

In screening for CF in newborns, blood tests measure _________________

A

immunoreactive trypsinogen

198
Q

Lesch-Nyhan disease is caused by a defect in ________________

A

recycling purines

199
Q

(acidic/basic) pH decreases melting temperature

A

basic

200
Q

What is an example of DNA base methylation?

A

cytosine to 5’-methylcytosine

201
Q

What is an example of deamination of DNA bases?

A

cytosine deaminated = uracil

-if uracil gets methylated, get thymine

202
Q

siRNA vs. miRNA

A

siRNA: perfect match, cleaves RNA
miRNA: imperfect match, inactivates RNA

203
Q

Primase catalyzes ___________ to begin DNA replication

A

addition of the RNA primer

204
Q

_____ is the cofactor for ligase in eukaryotes and _____ is the cofactor for ligase in prokaryotes

A

ATP, NAD+

205
Q

RNA Pol I makes ____, RNA Pol II makes ____, and RNA Pol III makes _____

A

rRNA; miRNA, snRNA, mRNA; tRNA

206
Q

In fragile X, methylated DNA recruits __________

A

HDACs, silencing transcription

207
Q

Beta-thalassemia involves a mutation in the ___________

A

TATA box (CATA to CATG)

208
Q

Gamma-delta-beta thalassemia involves a mutation in _________________

A

the locus of control region

209
Q

What are the two classes of DNA activators/repressors?

A
  • sequence-specific DNA binding proteins

- cofactors

210
Q

Zinc finger proteins include _________ and ___________ receptors

A

androgen, estrogen

211
Q

Swi and sf are examples of __________________

A

ATP-dependent chromatin remodelers (open chromatin, expose DNA for binding via hydrolysis)

212
Q

Rubenstein-Taybi syndrome involves a mutation in ______ binding protein, activating a ____

A

CREB, HAT

213
Q

What is interferon stimulation?

A

Cells make interferons in response to viral RNA and the interferons bind to other cells to downregulate their translation

214
Q

piRNAs are involved in ________________

A

mobile element silencing

215
Q

steps to detecting HbS mutation in Sickle Cell

A
  1. digest patient’s DNA with MstII restriction enzyme
  2. electrophorese
  3. Southern blot
216
Q

What does exome sequencing detect?

A

novel coding SNPs among patients with the same rare Mendelian disorder

217
Q

____% of the genome is GC rich and ____% of the genome is AT rich

A

38%, 54%

218
Q

alternate vs. adjacent segregation

A

alternate: centromeres of homologues go to opposite poles
adjacent: adjacent centromeres go to same pole

219
Q

In primordial germ cells, ….
females = (maternally/paternally) methylated
males = (maternally/paternally) methylated

A 
females = (maternally) methylated
males = = (paternally) methylated
220
Q

FISH probes detect small deletions, such as in __________ or ____________

A

Down Syndrome, leukemia

221
Q

Locus specific identifier FISH probe

A

deletion/duplication of chromosomes

-p53, cancer

222
Q

chromosomal microarrays can detect __________ and ___________ but not ______________

A

deletions and duplications, not translocations

223
Q

pharmacokinetics (4)

A

absorption, distribution, metabolism, excretion of drugs

224
Q

CYP3A

A

drug: cyclosporine (immunosuppressant)
inhibitors: grapefruit juice, ketoconazole
inducer: rifampicin

225
Q

_______________ make up the bulk of the ECM in CT

A

fibroblasts

226
Q

What type of tissue is a gland?

A

epithelial

227
Q

Steps of smooth muscle contraction

A
  • Ca binds to calmodulin
  • Ca-calmodulin activate CaM kinase
  • phosphorylation of myosin light chain head
  • power stroke
228
Q

____________ allow capillaries and post-capillary venues to contract despite having no smooth muscle

A

pericytes

229
Q

Maturity onset diabetes is an example of _____________

A

variable expressivity

230
Q

(a-/a-) is more common in ___________ and (aa/–) is more common in ____________

A

Africans, SE Asians

231
Q

You need to know the __________ for FISH

A

genetic sequence (because you have to know what the complement should bind to)

232
Q

T/F: Most ECM in bone is calcified

A

true

233
Q

Von-Hippel Lindeau has __________ penetrance and ____________ variable expressivity

A

high, high

234
Q

Why is administering insulin and glucose a good treatment for hyperkalemia?

A

facilitates glucose uptake into cell, bringing K+ with it (activates Na-K pump)

235
Q

What is the function of the S5/6 domains of Nav/Kv ion channels?

A

form ion-conducting pathway and selectivity filters

236
Q

The safety factor for an action potential is _________ at the branch point

A

lowest

237
Q

What is a karyopherin?

A

importin/exportin

-shuttles cargo across the nuclear envelope

238
Q

Intrinsic mechanism for apoptosis

A
  • Bim cancels effect of Bcl-2
  • Bax and Bak activated
  • cytochrome c leaves mitochondria, interacts with Apaf-1
  • activates caspase 9, caspase 3, apoptosis
239
Q

extrinsic mechanism for apoptosis

A
  • cytotoxic T cells up regulate CD95L/FasL
  • ligand cross-links to infected cell
  • recruits FADD adapter
  • caspase 8, caspase 3, apoptosis
240
Q

___________ is a drug that stabilizes microtubules, shutting down mitosis

A

paclitaxel

241
Q

What is the role of abiraterone on prostate cancer?

A

-blocks CYP17 (androgen production in tumor?

242
Q

What is the role of enzalutamide in prostate cancer?

A

-inhibits nuclear translocation

243
Q

Two types of fibrillar proteins

A

collagen, elastin

244
Q

Two types of matrix metalloproteases (MMPs)

A

fibronectin, laminin (participate in remodeling ECM)

M2M Final Exam (1 decks)

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