Gene Expression 2 Flashcards

1
Q

What occurs when there are errors in gene expression

A

Can cause many uncommon diseases cystic firbrosis and can influence the predisposition of many uncommon diseases.

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2
Q

What genes are mutated in breast cancer mutation

A

BRCA1 and BRCA2 Genes

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3
Q

What genes are mutated in pulmonary arterial hypertension

A

Mutation in the BMPR2 gene

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4
Q

What genes are mutated in cystic fibrosis

A

CFTR

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5
Q

What genes are mutated in spinal muscular atrophy

A

SMN1

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6
Q

What genes are mutated in the duchess muscular dystrophy

A

DMD

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7
Q

How can transcription errors lead to disease

A

Over expression of the TF can cause cancer

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8
Q

How can splicing cause disease

A

Alternative splicing can cause mutations found in the exon can be skipped and produce a non functional protein

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9
Q

What are the steps in western blotting

A
  1. Sample preparation
  2. Gel Electrophoresis
  3. Blotting (or transfer)
  4. Blocking
  5. Antibody Probing
  6. Detection
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10
Q

What is PCR for

A

Enables application of a specific region of DNA

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