Molecular diagnosis Flashcards

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1
Q

DNA moves towards which end during electrophoresis?

A

The anode or positively charged end

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2
Q

What are plasmids used for?

A

Gene cloning

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3
Q

Gene cloning is used to make … for diabetics

A

Proinsulin

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4
Q

What are the 3 temperatures key for PCR?

A

95, 55, 75-80

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5
Q

What is SDS-PAGE electrophoresis used for?

A

Separating proteins by molecular weight

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6
Q

What molecular method separates proteins by their isoelectric points?

A

Isoelectric focussing

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7
Q

Why do ddNTPs cause strand termination in DNA sequencing?

A

ddNTP’s lack a 3’OH group so polymerisation cannot occur

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8
Q

What is Southern Blotting used for? (3)

A

To detect large deletions/duplications
To detect gene expansions e.g. Huntington’s and Fragile X
To investigate variations e.g. DNA fingerprinting

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9
Q

Northern blotting is used to visualise ……

A

RNA

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10
Q

What is the advantage of reverse transcriptase PCR?

A

It allows for allele specific PCR to find abnormalities

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11
Q

What is the purpose of microarray technology?

A

It allows for the simultaneous investigation of many hundreds of thousands of DNA or RNA fragments

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12
Q

What is karyotyping?

A

It is the systematic sorting of metaphase chromosomes according to chromosome number

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13
Q

What is fluorescence in situ hybridisation (FISH) used for?

A

It is used for investigating specific DNA sequences on chromosomes inside the cell

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14
Q

Allele specific probes can detect ……. …… mutations

A

Single base mutations

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15
Q

What is proteonomics?

A

The analysis of all proteins expressed from a genome

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16
Q

What is an epitope?

A

The specific amino acids on a protein antibodies recognise

17
Q

What is enzyme-linked immunoabsorbent assay (ELISA) ?

A

It is a technique using an antibody linked to an enzyme used to quantify the amount of a molecule . It is used in diagnostics tests to measure the concentration of biological molecules in solution

18
Q

Alanine transaminase is a serum marker for …….

A

Pancreatitis

19
Q

What is considered the gold standard of myocardial infarction detection?

A

Elevation in cardiac troponin 1 by ELISA

20
Q

What is the clinically important serum enzyme used as a marker for liver damage or disease?

A

Aspartate transaminase

21
Q

How is DNA protected from restriction enzymes?

A

By methylation