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genetics and genomics > genetics exam review > Flashcards

genetics exam review Flashcards

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Biology 101 flashcards
1
Q

what are neurons?

A

nevre cells in the brain that are responsible for lots of functions

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2
Q

what are glial cells?

A

the most abundant cell in the cns

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3
Q

what is the dendrite?

A

the tail part that recieves signals from other cells

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4
Q

what is the soma?

A

the part with the neuceus with other thingsq

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5
Q

what is the axon?

A

the long part of the cell that recieves action potentials

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6
Q

what is dementia?

A

a group of diseases that encompases lots of things like memory loss

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7
Q

what is the early stage of dementia characterized by?

A

mild cognitive impairment. so things like how to pay bills, to turn off light, etc

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8
Q

what is the cause of dementia?

A

its caused by a myriad of diseases

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9
Q

what is nft for alzheimers?

A

hyperphospholated tau protien that gets twisted aorund one another

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10
Q

whats the normal function for nft?

A

stabalizing microtubules

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11
Q

what is beta amyloid plaque?

A

when the beta amyloid protien builds up, becomes sticky, and stops cell to cell signaling

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12
Q

what is vascular dementia?

A

dementia that is caused by damage to the blood vessels that supply blood to the brain

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13
Q

is vascular dementia common?

A

its the second most common dememntia

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14
Q

what are some causes of vascular dementia?

A

vascular issues, atherosclerosis, htn, stroke

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15
Q

what is lewy body dememntia?

A

when there is a buildup of lewy body deposits in the brain and it alters the chemical makeup

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16
Q

what are is the patho of lewy body dementia?

A

when the lewy body cells are causing the memory neurons for memory production and dopamine are being damaged

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17
Q

what is parkinsons?

A

a progressive disorder of the brain that causes things like uncontrollabe shaking and balence etc

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18
Q

what meds are used to combat parkinsons?

A

levadopa and carvadopa

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19
Q

what is the moa of levadopa?

A

making more dopamine

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20
Q

what is the moa of carvadopa?

A

to counteract the affects of levadopa

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21
Q

what type of mendelian pattern is huntingtons?

A

autosomal dominant

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22
Q

what is the cause of huntingtons?

A

an abnormal repeat of cag,ctg in exon 1

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23
Q

what are the most affected cells in huntingtons?

A

neurons

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24
Q

what are the triad of symptoms for huntingtons?

A

motor, cognitive, emotional

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25
Q

what type of dna disorder is huntington and sca?

A

repeat expansion

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26
Q

what is als?

A

the progressive shutdown of motor funciton in the brain and spinal cord

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27
Q

what is the survival rate for als post diagnosis?

A

2-5 years

28
Q

what are the alternative names for als?

A

lou gherigs, charcot disease

29
Q

what are some risk factors for as?

A

family history, genetics, military service

30
Q

what are some als meds?

A

riluzone (reduce damage), edavarone(antioxidant), toferson (antioxidant)

31
Q

what are some things required for informed consent?

A

propper doccumentation by the hcp, education

32
Q

in what instance is informed consent not emphasized?

A

when the patient is incapacitated

33
Q

what is a proxy?

A

a person who makes decisions for the incapacitated

34
Q

can minors provide informed consent?

A

no they cannot, their parent or guardian does

35
Q

what is eugenics?

A

a theory that tries to make it possible to achieve a “perfect race”

36
Q

who first coined the term eugenics ?

A

charles darwin cousin

37
Q

which state passed the first sterilization law ?

A

indiana

38
Q

what are hela cels?

A

cells associated with henrietta lacks that are immortal

39
Q

what is the common rule law?

A

law put in place to ensure that humans are protected when they participate in trials funded by the government

40
Q

what does GINA stand for?

A

Genetic Information Nondiscrimination act

41
Q

what does the gina act do?

A

it prevents discrimination based on genetic testing resuts

42
Q

does gina act protect against miitary, health and life insurance, and small empoyers?

A

no

43
Q

what are some other names for precision medicine?

A

personalized medicine, genomic medicine

44
Q

what is bioinformatics?

A

when you use computers to collect, store, and sequence dna data

45
Q

what is biomarkers?

A

bood and tissue that can be used to diagnose conditions

46
Q

what are some advantages of next generation sequencing?

A

its quick, cost effective, new, and can sequence thousands of strands

47
Q

what is ion torrent technology?

A

sequencing that focuses on detecting hydrogen ions

48
Q

what is pharmacogenetics?

A

the study of how each person might react to therapie based on their gene sequencing. it can also detect if the drug therapy would be useful

49
Q

where are the cyp isoenzymes found?

A

liver, intestines, kidney

50
Q

how many isoenzymes are there?

A

57

51
Q

how many isoenzymes are responsible for drug metabolism?

A

6 (respponsible for 90 % of all drug metabolism)

52
Q

how do the cyp enzymes handle drug breakdown?

A

it analyzes your metabolism to see if youre too fast or slow of a metabolizer, and it then converts the drugs to its correct form

53
Q

what is genomics?

A

the study of an individuals genome and how it reacts with the enviornment

54
Q

how far away is most of the new therapies?

A

10-15 years out i fear

55
Q

what is an open label trial?

A

when the researchers know which groups their patients are assigned

56
Q

what is a blind study?

A

when the reararchers and/or the participants dont know which group theyre apart of

57
Q

what is phase 1 of clinical trial?

A

when it is focused on safety and how the drug interacts with the body

58
Q

what is phase 2 of the drug trial?

A

when them ppl compare the drug to other drugs to see its efficacy. this is when they sometimws use a placebo

59
Q

what is phase 3 of the drug trial?

A

when it is given to larger groups of the population to see if the drug is working and how effective is it

60
Q

what is phase 4 of the trial ?

A

when the drug is made avaliable for the public. usually this is when people are testing for rare side affects

61
Q

what is the golden standard for genetics ?

A

genetic sequencing that gives the best possible practice for the patient

62
Q

what is the variant of uncertain significance?

A

when an unknown variant has been found, but we dont know if it plays a factor in gene changes

63
Q

what is a positive result in genetic testing?

A

a change in a specific gene was found

64
Q

what is a negative result in a genetics test?

A

the lab did not find a change in dna. it usually means that the person is not affected by a soecific disease process

65
Q

what was the challenges noted in the geentic study from 2021?

A

that there was so much ambiguity and uncertainty with people not being able to interpret the results. the variant of uncertain significance played a huge role

66
Q

what was the consequence of the misinterpreted results in the 2021 study?

A

people had unecessary follow up appointments

genetics and genomics (8 decks)

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