Vino Terms Flashcards

1
Q

Aneuploidy

A

nondisjunction during meiosis

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2
Q

Monosomy XO

A

Turner syndrome (sperm has the problem)

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3
Q

Monosomy YO

A

lethal in embryo

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4
Q

Trisomy XXX

A

in female, no problems, 2 Barr bodies

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5
Q

Trisomy XXY

A

in male, Klinefelter syndrome, low sperm production

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6
Q

Trisomy XYY

A

in male, Jacobs syndrome, generally fertile

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7
Q

Retroviruses

A

ssRNA, enveloped, high oncogenic ability, low cytotoxic inflammatory response

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8
Q

Adenoviruses

A

dsDNA, non enveloped, high cytotoxic inflammatory response

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9
Q

Adeno-associated viruses

A

ssDNA, non enveloped, low inflammatory response, low oncogenic abilities

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10
Q

Herpes simplex viruses

A

dsDNA, enveloped, able to affect neurons, not rejected by immune system

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11
Q

Nonviral methods

A

chemical uptake with calcium phosphate, physical electroporation, injection of naked plasmid DNA, membrane fusion with liposomes, poly-K PEG DNA nanoparticles, receptor mediated uptake

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12
Q

Adenosine deaminase deficiency

A

caused by a defect in a single gene, gene is regulated in “always on” fashion

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13
Q

Ornithine transcarbamylase deficiency

A

severe immune response to adenoviral vector

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14
Q

Killer T cells

A

treatment of melanoma, modified T cells using ex vivo retrovirus to attack to attack the cancer cells

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15
Q

Gendicine

A

delivers p53 tumor suppressor gene

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16
Q

Glybera

A

treat lipoprotein lipase deficiency

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17
Q

Kymriah

A

treat children with acute lymphoblastic leukemia

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18
Q

Luxturna

A

first in vivo, cure for levers congenital amaurosis

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19
Q

Zolgensma

A

for pediatric patients, for spinal muscular atrophy, based on Adeno-associated virus vector

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20
Q

Restriction sites

A

specific sequence of DNA that can be cut by endonucleases

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21
Q

Blunt ends

A

done by endonucleases, cut the DNA in the same spot on both strands

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22
Q

Stick ends

A

done by endonucleases, cut DNA at different spots on each strand

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23
Q

PCR steps

A

denaturation of DNA helix, anneal forward and reverse primers, extension of primers

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24
Q

protein production in bacteria

A

fast and easy, cannot glycosylate

25
protein production in mammals
slow and expensive, can glycosylate
26
purification techniques
affinity based chromatography, cleavage of the tag, ion exchange, size exclusion, reverse-phase
27
Alteplase
tissue plasminogen activator
28
Darbepoetin
glycosylation
29
Glycosylation
in cell-cell recognition, sialic acid "cap" - determines lifetime of protein in blood, asialoglycoprotein - removes immunoglobulins and peptide hormones, oligosaccharides - role in recognition
30
Pegylation
addition of polar tales so improved PK properties, Filgrastism
31
Naloxegol
advanced pegylation
32
Truncation
Fuzeon (inhibits fusion)
33
Maraviroc
blocks HIV gp120 protein
34
Sites of Drug Targeting for HIV
CD4 receptors, entry/fusion inhibitors (reverse transcriptase inhibitors, integrase inhibitors, protease inhibitors)
35
Maxam gilbert sequencing
long reaction with dangerous materials
36
PCR
safer than maxam gilbert, electrophoresis and fluorescently labeled ddNTPs = automated sequencing
37
Next gen sequencing
sequence can be done in parallel and only need one strand of DNA (Illumina sequencing, Roche 454, Ion torrent)
38
Fourth generation-nanopore sequencing
sequencing by blood sample
39
SNPs - single nucleotide polymorphism
could change a nucleotide or not, HapMap project goal: identify patterns of SNPs
40
Earth biogenome project
developed to sequence the genomes of all known species
41
Epigenomics
study in regulation of gene activity, expression, not gene sequence
42
NIH roadmap epigenomics program
origins of a disease as a result of genes, specifically epigenetic mechanisms that control set cell differentiation and organogenesis
43
Human proteome map
forms draft map of human proteome project, using mass spectrometry
44
Transgenic mice
see effects of how the gene is expressed at a specific time and location, ability of promoter to direct gene expression, normal gene is replaced by engineered gene
45
Inbred strains of mice
have the same genetic makeup
46
Knockout mice
normal gene is missing or engineered is not translated
47
Knocking mice
engineered gene changes function of normal gene or how much it is transcribed
48
Conditional knockout mice
gene is removed due to outside substance in specific tissues
49
Random gene insertion
early vectors placed the gene anywhere in the genome
50
Targeted gene insertion
requires desired gene
51
Neo
encodes an enzyme that inactivates neomycin and is lethal to mammalian cells
52
Tk gene
encodes thymidine kinase, an enzyme that phosphorylates the nucleoside analog ganciclovir
53
Ganiciclovir
kills cells that contain tk gene by inserting the nonfunctional nucleotide into freshly replicating DNA
54
Positive selection
Neo gene, homologous and non homologous recombination has occurred
55
Negative selection
Tk gene, non homologous recombination has occurred
56
Cre-lox P recombination
deletes a specific portion of DNA, the lox P sites work in Paris and add DNA on either side to segment of DNA and inactivate that gene
57
Drawbacks of knockout mice
developmentally lethal, failure to produce the change, different change than that predicted in humans
58
CRISPR-Cas9 system
no additional DNA, fast and efficient, changing many genes at once, make heritable genes in one generation, minimize off target gene disruptions, generate knock in and knockout cell lines