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Physiology & Science: Molecular > Application of Mol Bio to Medicine > Flashcards

Application of Mol Bio to Medicine Flashcards

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Biology 101 flashcards
1
Q

What are the 4 mechanisms of cytogenetics?

A
  • G-banding
  • FISH
  • QF-PCR
  • Array-CGH
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2
Q

What are the 3 most common trisomies (extra chromosome)?

A
  • Down syndrome (21)
  • Edward syndrome (18)
  • Patau syndrome (13)
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3
Q

What are the 3 key features used to identify chromsomes?

A
  1. size
  2. banding pattern
  3. centromere position
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4
Q

What are the 4 different centromere localisations?

A

Telocentric we don’t get in humans

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5
Q

Why do we look at chromosomes in metaphase?

A

As they are the most visible and condense, and duplicated as well

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6
Q

What are the two different forms of chromatin?

A

Euchromatin + heterochromatin

Euchromatin = GC-rich, loosely packed, genes active

Heterochromatin = AT-rich (darker), tightly packed, genes inactive

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7
Q

What is the most common form of chromosome banding?

A

G-banding (G=giemsa)

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8
Q

Summarise G-banding

A
  • extract lymphocytes
  • culture at 37C for 3 days
  • add colchicine to arrest in metaphase
  • add hypotonic saline to cause cell swelling
  • cells lyse
  • mount on slide + stain
  • look for aneuploidies, translocations + v large deletions
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9
Q

Discuss FISH

A

Do the same as G-banding, except you denature the fluorescent probe and target DNA, then mix the probe with target DNA and the probe should bind to the target

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10
Q

What 3 syndromes does FISH test for?

A
  • 22q deln syndrome (chromosome 22)
  • Prader-Willi syndrome (chromosome 15)
  • Cri-du-chat (chromsome 5)

Often deletions - FISH allows us to see these problems with greater clarity

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11
Q

What is spectral karyotyping?

A

Essentially chromosome painting allowing to use multiple probes across the genome

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12
Q

Which test uses micosatellites?

A

QR-PCR, microsatellites are repetitive bits of DNA across genome, most do nothing but exist - helpful as markers for various things, eg. gene mapping, diagnostic tests as we know where they are.

Number of repeats is constant within one individual but varies between different individuals.

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13
Q

What type of abnormality is QF-PCR useful for?

A

Trisomies!

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14
Q

What are the 3 main stages of QF-PCR? (ADA)

A
  1. Amplification
  2. Detection
  3. Analysis
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15
Q

What are key features of QF-PCR?

A
  • for trisomies
  • uses fluorescent probes for SPECIFIC microsatellite markers on SPECIFIC chromosomes
  • uses extracte dDNA
  • quick (48 hrs)
  • looks for enuploidies
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16
Q

What is Array-CGH used for?

A

Sub-microscopic chromsome abnormalities, for microdeletions, microduplications, CNVs, the main indication is developmental problems, dysmorphia

17
Q

How can copy number variation be helpful and detrimental?

A

Refers to duplications and deletions

Can protect. eg from HIV

Can be detrimental eg. autism + schizophrenia

Many often do nothing

18
Q

Describe the process of aCGH

A
  1. extract DNA
  2. test DNA labelled w/ fluorescent dye
  3. control DNA lebelled w/ diff fluo dye
  4. mix DNA together
  5. apply denatured DNA to array -> hybridise
  6. measure relative fluorescence
19
Q

What are the separate steps of Sanger Sequencing?

A
  • amplify (PCR)
  • denature/strand separation
  • anneal primer
  • extension
  • termination
  • denature
  • read
20
Q

What components are needed for Sanger sequencing?

A
  • dideoxy or chain termination method
  • dna template
  • dna primer
  • dna polymerase
  • dNTPs
  • ddNTPs (lacks OH)
21
Q

How does a ddNTP result in termination during sequencing?

A

ddNTPs lack OH group, which is important for formation of the nucleotide backbone, so therefore result in termination of the strand

22
Q

Breaking it down further, what are the 4 steps of the sequencing part of the reaction?

A
  1. strand separation
  2. anneal primer
  3. extension
  4. termination
23
Q

How is Next Generation Sequencing different from Sanger sequencing?

A

It’s targeted, looks at whole exome and genome - identifies substitutions as well and can look at ALL genes at once.

24
Q

Summaries the differences in between the 6 tests we’ve looked at

A

Physiology & Science: Molecular (2 decks)

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