Diagnostic Tools Flashcards

1
Q

two types of clinical diagnostic tech

A

molecular and medical imaging diagnosis

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2
Q

technique used to analyze biological markers in the genome and proteome the individual’s genetic code and how their cells express their genes as proteins

A

molecular diagnosis

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3
Q

technique and process used to create images of the human body for clinical purposes or medical science

A

medical imaging diagnosis

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4
Q

functions of mass spectrometry

A

-measures mass better than any other technique and can give info about chem structures

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5
Q

what are mass measurements good for?

A

to identify, verify and quantitate: metabolites, recomb proteins, proteins isolated from natural sources…etc

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6
Q

how does mass spectrometer work

A

ion source: makes ions –> mass analyzer: separates ions based on their mass-charge ratio –> mass spectrum: presents info

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7
Q

key specifications of mass analyzers

A

resolution, mass measurement, accuracy and sensitivity

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8
Q

detection of the various pathogenic mutations in DNA and/or RNA samples in order to facilitate detection, diagnosis, subclassfication, prognosis and monitoring response to therapy

A

nucleic-acid based molecular diagnosis of human disorders

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9
Q

a genetic disease w/c is caused by a single nucleotide change in the 6th amino acid of the beta chain of hemog.

A

sicle cell anemia

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10
Q

who and when is the PCR invented

A

Kary Mullins (1985); noble prize in ‘93

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11
Q

Principles of PCR

A
  1. Temperature cycling: denaturation - 94, annealing -55, extension - 72
  2. every cycle DNA between primers is duplicated
    * does exponential amplification
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12
Q

components of PCR rxn

A
  • template DNA
  • flanking primers
  • thermo-stable polymerase (Taq polymerase)
  • dNTP
  • PCR buffer
  • thermocycler
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13
Q

genetic disorder characterized by abnormal body movements and reduced mental abilities; caused by mutation of Huntingtin (HD) gene

A

huntington’s disease

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14
Q

individuals w/HD vs. non-HD individuals

A

non-HD: CAG repeats less than 30x

HD: CAG repeats more than 36x

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15
Q

How can someone determine if they have HD?

A

PCR can be performed; the DNA is amplified via PCR and sequenced and the number of the trinucleotide repeats is counted

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16
Q

retrovirus that attacks the immune system

A

HIV

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17
Q

principles of HIV test

A

HIV tests rely on PCR w. primers that will only amplify a section of the viral DNA found in an infected bodily fluid; pcr product = HIV+, no pcr prod = HIV-

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18
Q

accurate absolute quantification of template molecules by separation of target molecules and counting statistics

A

droplet digital PCR

19
Q

Goals of Human Genome Project

A
  • to identify all of the genes in human DNA
  • to determine the sequences of the 3 billion bases that make up human DNA
  • to create databases
  • to develop tools for data analysis
  • to address the ethical, legal, and social issues that arise from genome research
20
Q

implications of genome decipher

A

epigenetics -> gene regulation -> RNA and protein markers

21
Q

allows analysis of thousands of gene in one experiment

A

DNA microarray

22
Q

Dideoxy (SAnger) method

A
  1. denaturation
  2. primer attachment and extension of bases
  3. termination
  4. gel electrophoresis
23
Q

sequencing that performs large-scale sequencing of DNA by DNA fragmentation, duplication into a vector and individual sequencing

A

shotgun sequencing (assembled electronically)

24
Q

NGS Platforms

A
pyrosequencing
sequencing by ligation
H+ ion generation/ion torrent
reversibly dye terminators
massive parallel sequencing
illumina flow cell platform
25
Q

massively parallel seq.

A

bridge amplification, clonal expansion

26
Q

illumina flowcell platform

A

sequence by synthesis, bridge amp.

27
Q

ion torrent seq

A

semiconductor sequencing based on the detection of H+ions, amp by emulsion PCR

28
Q

Who discovered xrays?

A

Wilhe, m Conrad Roentgen (Nov. 8, 1985); 1901 novel prize for phys

29
Q

form of EM radiaion that penetrate matter and can cause fluorescence of some atoms, expose film and biological damage

A

x-ray

30
Q

parts of x ray tube

A
  • cathode - electron source
  • tungsten filament
  • negatively charged concave cup around filament
  • focal spot
  • thermonic emission
  • anode -target w/c electrons strike
  • tungsten target
  • stationary - anode in large block of Copper
  • rotating - disc rotates w.c spreads e- around target thus less heat build uo
31
Q

problems with conventional radiography tech.

A
  • inability to distinguish soft body tissue because of limited contrast
  • inability to resolve spatially structures along the x-ray propagation axis resulting in a loss of depth information
32
Q

forms of diagnostic imaging

A

CT, ultrasound imaging, MRI

33
Q

uses x-rays to produce an image/cross sectional imaging; requires computer manipulation of images

A

computed tomography

34
Q

principle of CT

A

principle that an image of an unknown object can be obtained if one has an infinite number of projections through the object

35
Q

uses 3D imaging tech. to evaluate the vascular system

A

CT angiography

36
Q

advantages of CTA over conventional angio

A
  • img reconstruction w/o the use of exposure to radiation or IV contrast
  • overlying structures can be eliminated
  • does not require arterial puncture
37
Q

used in most CT imging to distinguish normal anatomy from pathology

A

Contrast media - ex: iodine based IV contrast

38
Q

principles of utrasound

A

high freq. sound is transmitted into the body, usually in very short pulses;
returning echoes are analyzed to create an image; reflections are due to variations in acoustic impedance; uses Doppler effect

39
Q

Capabilities of ultrasound

A

provides real-time imging

  • color doppler
  • non-toxic
  • inexpensive
40
Q

limitations of ultrasound

A
  • poor or no imaging through bone,gas
  • operator dependant image quality
  • images more difficult to interpret than CT
41
Q

uses strong magnetic field and radiofreq. waves to image structures; no ionizing radiation and great for soft tissue

A

MRI

42
Q

principle if MRI

A
  • Radio freq, is passed through the coils (in the target area) that excites H+
  • The gradient magnets are then activated in the main magnet and alter the magnetic field in the area that is being scanned, causing H+ to spin
  • Radio freq. is turned off and H+ return to their natural state
  • protons align themselves and the protons that are not cancelled create a signal and are the ones responsible for the image
43
Q

role of contrast dye in MRI

A

makes target area stand out and show irregularities; blocks x-ray photons from reaching the film, thus showing different densities in the tissue

44
Q

MRI measures what neural parameters

A

changes in phosphorus metabolism

  • blood flow
  • blood volume
  • blood oxygenation