Tutorial title - The molecular and biochemical basis of disease
16 important questions on Tutorial title - The molecular and biochemical basis of disease
What is the only type of disease without any genetic component?
What are the effects of mutation on function?
2. Novel (new) property
3. Incorrect expression
What are the variants caused by mutation?
- coding region
- RNA stability or splicing
- gene regulation or dosage
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List the different classes of functional proteins
2. Structural proteins
3. Organelles
4. Nuclear proteins
5. Cytoplasmic proteins
6. Cell surface proteins
Mutations in what type of proteins can lead to genetic disease?
What are housekeeping proteins?
How much of the cellular mRNA does housekeeping proteins account for?
What are tissue-specific specialty proteins?
What kind of diseases does mutations in tissue-specific proteins most often produce?
Why does a mutation in housekeeping genes rarely cause pathological changes in every tissue with that housekeeping gene?
What is genetic redundancy?
What are the 3 possible genetic variations from phenotypic variation?
2. Locus heterogeneity
3. Modifier genes
What is allelic heterogeneity?
What is locus heterogeneity?
What are modifier genes?
How many genes of the human genome encode for enzymes?
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