Gene Expression 2 Flashcards
What occurs when there are errors in gene expression
Can cause many uncommon diseases cystic firbrosis and can influence the predisposition of many uncommon diseases.
What genes are mutated in breast cancer mutation
BRCA1 and BRCA2 Genes
What genes are mutated in pulmonary arterial hypertension
Mutation in the BMPR2 gene
What genes are mutated in cystic fibrosis
CFTR
What genes are mutated in spinal muscular atrophy
SMN1
What genes are mutated in the duchess muscular dystrophy
DMD
How can transcription errors lead to disease
Over expression of the TF can cause cancer
How can splicing cause disease
Alternative splicing can cause mutations found in the exon can be skipped and produce a non functional protein
What are the steps in western blotting
- Sample preparation
- Gel Electrophoresis
- Blotting (or transfer)
- Blocking
- Antibody Probing
- Detection
What is PCR for
Enables application of a specific region of DNA