Lecture 29: Mutations + Genetic Disease Flashcards
Mutation can be…
- Inherited or acquired
What is a mutation?
- A permanent change to the DNA sequence
Mutations that are inherited are called:
- Germline mutations and are passed on via the gametes
The vast majority of mutations are actually…these are called….and often occur in…
- Neutral, and have no effect at all
- Silent mutations
- In non-coding regions such as intergenic regions or introns
Factors that can effect mutation:
- Environmental effects (diet, exposure to toxins)
- Other genes (‘genetic background’)
Missense mutations change…
- An amino acid which can alter the protein’s ability to function, as in sickle cell anaemia
What happens in frameshift mutations?
- Insertion of a A
- Deletion of C
- All codons are now wrong
- And usually there’s a stop codon in there
Triplet repeat expansion can..
- Alter protein function
Another mutation effect can be caused by chromosome re-arrangement. Examples include:
- Translocations
- Inversions
- Aneuploidy
Haemophilas are disorders of _____ _____. Haemophila A results from impaired or absent clotting factor ____. Haemophila B as an affected ___ factor. Untreated, there is a high risk of ____ from ______ _____. Both Haemophila A and B are _-______ recessive disorders therefore males express the disease more often.
- Blood clotting
- 8 (VIII)
- XI
- Death
- Uncontrolled Bleeding
- X-linked
Queen Victoria most likely carried…
- Haemophila B
Huntington Disease is a…
- Degenerative disease
- Autosomal
The genetic cause of HD…
- Mapped to chromosome 4
- Gene codes for previously unknown protein called huntingtin
- Can use PCR to determine who will develop the disease before the age at which symptoms develop
The larger the copies of disease:
- The younger you’ll develop the disease
How is HD developed?
- It’s passed on by affected people
