Cellular Control Flashcards
Which types of mutation are inherited and not inherited?
- Mutations associated with with mitosis division (somatic mutations) are not passed to offspring- may be associated w/ development of cancerous tumours
- Mutations associated with meiosis and gamete formation may be inherited by offspring
What are the 3 types of point mutation?
- silent
- missense
- nonsense
What are silent mutations?
- Where the change to the base triplet results in a base triplet which codes for the same amino acid
- Result of the genetic code being degenerate
What are missense mutations?
- A change to the base triplet that leads to a change in the amino acid sequence in a protein
- change in primary structure may have a knock on effect on tertiary structure preventing it from carrying out its usual function
What is an example of an illness caused by a missense mutation?
Sickle cell anemia- mutation on the 6th base triplet on a gene for the polypeptide chains of haemoglobin. Haemoglobin crystallises and deprives tissues of oxygen
What are nonsense mutations?
When a point mutation alters a base triplet so that it becomes a termination triplet/stop codon.
This results in a truncated protein that will not function Which will likely be degraded in the cell
What is an example of an illness caused by a nonsense mutation?
-Duchenne muscular dystrophy
What are indel mutations?
When nucleotide base pairs (not in multiples of three) are inserted or deleted from the gene.
Results in a frame-shift as the code is non-overlapping and read in groups of 3 bases.
Primary sequence of the protein is very effected as well as the tertiary structure- affects function of protein so will likely be degraded in the cell
What is an example of an illness caused by an indel mutation?
Thalassaemia, a haemoglobin disorder
How is Huntington’s disease characterised?
It results from an expanding triple nucleotide repeat if the number of CAG sequences goes above a critical number
What are some examples of non-harmful mutations?
- inability to smell certain flowers
- differently shaped earlobes
- Eye colour, lighter eyes may allow more damage in areas of high sunlight intensity but allow individuals to see better in less bright light
What two enzymes are produced if glucose is absent in prokaryotic cells specifically E. coli?
If disaccharide lactose is present it induces the production of:
- lactose permease: allows lactose so enter the bacterial cell
- B-galactosidase: hydrolyses lactose to glucose and galactose
What does the lac operant consist of?
- Length of DNA containing P/promoter and region next to lacO/operator region: control sites
- This is next to lacZ (codes for B-galactosidase) and lacY (codes for lactose permease): structural genes
- A small distance from the operon is I/the regulatory gene
What is the role of lacZ and lacY?
LacZ- codes for enzyme B-galactoside
LacY- codes for enzyme lactose permease
What is the role of P/promoter region?
It’s where the enzyme RNA polymerase binds to transcribe the structural genes