Vino Terms Flashcards

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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
Q

protein production in mammals

A

slow and expensive, can glycosylate

26
Q

purification techniques

A

affinity based chromatography, cleavage of the tag, ion exchange, size exclusion, reverse-phase

27
Q

Alteplase

A

tissue plasminogen activator

28
Q

Darbepoetin

A

glycosylation

29
Q

Glycosylation

A

in cell-cell recognition, sialic acid “cap” - determines lifetime of protein in blood, asialoglycoprotein - removes immunoglobulins and peptide hormones, oligosaccharides - role in recognition

30
Q

Pegylation

A

addition of polar tales so improved PK properties, Filgrastism

31
Q

Naloxegol

A

advanced pegylation

32
Q

Truncation

A

Fuzeon (inhibits fusion)

33
Q

Maraviroc

A

blocks HIV gp120 protein

34
Q

Sites of Drug Targeting for HIV

A

CD4 receptors, entry/fusion inhibitors (reverse transcriptase inhibitors, integrase inhibitors, protease inhibitors)

35
Q

Maxam gilbert sequencing

A

long reaction with dangerous materials

36
Q

PCR

A

safer than maxam gilbert, electrophoresis and fluorescently labeled ddNTPs = automated sequencing

37
Q

Next gen sequencing

A

sequence can be done in parallel and only need one strand of DNA (Illumina sequencing, Roche 454, Ion torrent)

38
Q

Fourth generation-nanopore sequencing

A

sequencing by blood sample

39
Q

SNPs - single nucleotide polymorphism

A

could change a nucleotide or not, HapMap project goal: identify patterns of SNPs

40
Q

Earth biogenome project

A

developed to sequence the genomes of all known species

41
Q

Epigenomics

A

study in regulation of gene activity, expression, not gene sequence

42
Q

NIH roadmap epigenomics program

A

origins of a disease as a result of genes, specifically epigenetic mechanisms that control set cell differentiation and organogenesis

43
Q

Human proteome map

A

forms draft map of human proteome project, using mass spectrometry

44
Q

Transgenic mice

A

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
Q

Inbred strains of mice

A

have the same genetic makeup

46
Q

Knockout mice

A

normal gene is missing or engineered is not translated

47
Q

Knocking mice

A

engineered gene changes function of normal gene or how much it is transcribed

48
Q

Conditional knockout mice

A

gene is removed due to outside substance in specific tissues

49
Q

Random gene insertion

A

early vectors placed the gene anywhere in the genome

50
Q

Targeted gene insertion

A

requires desired gene

51
Q

Neo

A

encodes an enzyme that inactivates neomycin and is lethal to mammalian cells

52
Q

Tk gene

A

encodes thymidine kinase, an enzyme that phosphorylates the nucleoside analog ganciclovir

53
Q

Ganiciclovir

A

kills cells that contain tk gene by inserting the nonfunctional nucleotide into freshly replicating DNA

54
Q

Positive selection

A

Neo gene, homologous and non homologous recombination has occurred

55
Q

Negative selection

A

Tk gene, non homologous recombination has occurred

56
Q

Cre-lox P recombination

A

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
Q

Drawbacks of knockout mice

A

developmentally lethal, failure to produce the change, different change than that predicted in humans

58
Q

CRISPR-Cas9 system

A

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