genetics exam review Flashcards
what are neurons?
nevre cells in the brain that are responsible for lots of functions
what are glial cells?
the most abundant cell in the cns
what is the dendrite?
the tail part that recieves signals from other cells
what is the soma?
the part with the neuceus with other thingsq
what is the axon?
the long part of the cell that recieves action potentials
what is dementia?
a group of diseases that encompases lots of things like memory loss
what is the early stage of dementia characterized by?
mild cognitive impairment. so things like how to pay bills, to turn off light, etc
what is the cause of dementia?
its caused by a myriad of diseases
what is nft for alzheimers?
hyperphospholated tau protien that gets twisted aorund one another
whats the normal function for nft?
stabalizing microtubules
what is beta amyloid plaque?
when the beta amyloid protien builds up, becomes sticky, and stops cell to cell signaling
what is vascular dementia?
dementia that is caused by damage to the blood vessels that supply blood to the brain
is vascular dementia common?
its the second most common dememntia
what are some causes of vascular dementia?
vascular issues, atherosclerosis, htn, stroke
what is lewy body dememntia?
when there is a buildup of lewy body deposits in the brain and it alters the chemical makeup
what are is the patho of lewy body dementia?
when the lewy body cells are causing the memory neurons for memory production and dopamine are being damaged
what is parkinsons?
a progressive disorder of the brain that causes things like uncontrollabe shaking and balence etc
what meds are used to combat parkinsons?
levadopa and carvadopa
what is the moa of levadopa?
making more dopamine
what is the moa of carvadopa?
to counteract the affects of levadopa
what type of mendelian pattern is huntingtons?
autosomal dominant
what is the cause of huntingtons?
an abnormal repeat of cag,ctg in exon 1
what are the most affected cells in huntingtons?
neurons
what are the triad of symptoms for huntingtons?
motor, cognitive, emotional
what type of dna disorder is huntington and sca?
repeat expansion
what is als?
the progressive shutdown of motor funciton in the brain and spinal cord
what is the survival rate for als post diagnosis?
2-5 years
what are the alternative names for als?
lou gherigs, charcot disease
what are some risk factors for as?
family history, genetics, military service
what are some als meds?
riluzone (reduce damage), edavarone(antioxidant), toferson (antioxidant)
what are some things required for informed consent?
propper doccumentation by the hcp, education
in what instance is informed consent not emphasized?
when the patient is incapacitated
what is a proxy?
a person who makes decisions for the incapacitated
can minors provide informed consent?
no they cannot, their parent or guardian does
what is eugenics?
a theory that tries to make it possible to achieve a “perfect race”
who first coined the term eugenics ?
charles darwin cousin
which state passed the first sterilization law ?
indiana
what are hela cels?
cells associated with henrietta lacks that are immortal
what is the common rule law?
law put in place to ensure that humans are protected when they participate in trials funded by the government
what does GINA stand for?
Genetic Information Nondiscrimination act
what does the gina act do?
it prevents discrimination based on genetic testing resuts
does gina act protect against miitary, health and life insurance, and small empoyers?
no
what are some other names for precision medicine?
personalized medicine, genomic medicine
what is bioinformatics?
when you use computers to collect, store, and sequence dna data
what is biomarkers?
bood and tissue that can be used to diagnose conditions
what are some advantages of next generation sequencing?
its quick, cost effective, new, and can sequence thousands of strands
what is ion torrent technology?
sequencing that focuses on detecting hydrogen ions
what is pharmacogenetics?
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
where are the cyp isoenzymes found?
liver, intestines, kidney
how many isoenzymes are there?
57
how many isoenzymes are responsible for drug metabolism?
6 (respponsible for 90 % of all drug metabolism)
how do the cyp enzymes handle drug breakdown?
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
what is genomics?
the study of an individuals genome and how it reacts with the enviornment
how far away is most of the new therapies?
10-15 years out i fear
what is an open label trial?
when the researchers know which groups their patients are assigned
what is a blind study?
when the reararchers and/or the participants dont know which group theyre apart of
what is phase 1 of clinical trial?
when it is focused on safety and how the drug interacts with the body
what is phase 2 of the drug trial?
when them ppl compare the drug to other drugs to see its efficacy. this is when they sometimws use a placebo
what is phase 3 of the drug trial?
when it is given to larger groups of the population to see if the drug is working and how effective is it
what is phase 4 of the trial ?
when the drug is made avaliable for the public. usually this is when people are testing for rare side affects
what is the golden standard for genetics ?
genetic sequencing that gives the best possible practice for the patient
what is the variant of uncertain significance?
when an unknown variant has been found, but we dont know if it plays a factor in gene changes
what is a positive result in genetic testing?
a change in a specific gene was found
what is a negative result in a genetics test?
the lab did not find a change in dna. it usually means that the person is not affected by a soecific disease process
what was the challenges noted in the geentic study from 2021?
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
what was the consequence of the misinterpreted results in the 2021 study?
people had unecessary follow up appointments
