12641529
Description
| Question | Answer |
| What are the 3 causes of large insertion? | Transposon mobilisation Virus insertion Retroposition |
| Tranposon mobilisation MOA (2) | Excision via transposases autonomously encoded by their own DNA Insertion into various regions of the genome. |
| What is retroposition? | RNA transcript -> DNA -> Integration into genome |
| What are the causes of large deletions? | Transposon mobilisation Incorrect repair of ds DNA break |
| How do transposon mobilisations cause deletions? | As they can take chunks of non-transposon DNA with them when they jump. |
| What occur during incorrect ds DNA repair? (2) | Sometimes isn't possible to use homologous chromosome as template for repair Just sticks broken ends back together |
| What are the list of bigger changes? (5) | Translocation (1) Reciprocal translocations (2) Inversion (3) Duplication (4) Chromosome fusion/fission (5) |
| What is translocation? | Movement of a region of genome |
| What is a reciprocal translocation? | Swap 2 regions of genome |
| What is inversion? | Excision, flip, paste back. |
| What is duplication? | Excision, replicate, stick both back in. |
| What is chromosome fusion/fission? | Fuse 2/split 1 into 2. |
| Spit me some bs about Ph Chromsome (3) | t(9;22)(q34;p11.2) Abl repressor domain and protein kinase domain PK is fused to bcr domain instead of abl, so kinase isn't repressed. |
| What is gene function allocation due to duplication? | One can specialise and the other does all the work They both split the function between the two of them |
| Dominant LOF alleles are of | a haplo-insufficient locus e.g. HPE4 |
| Dominant GOF allele mutation changes (3) | Mutation changes specificity of enzyme so it binds a different substrate Mutation changes gene expression patterns Changes pheno. |
| Dominant negative (antimorphic) mutation (2) | Mutant protein competes / counteracts WT protein e.g. binds irreversibly to substrate so WT can't bind. |
| Recessive allele mutations - degrees of mutation | Complete LOF Partial LOF - still produces protein, comprised. |
| When does a change in DNA become a mutation? | When the change is inheritable. Cells that aren't diving may leave damage unrepaired. |
| Name the 5 mechanisms of DNA repair | Direct reversal Mismatch repair BER NER Homologous recombination |
| What can cause inaccurate repair? (2) | Translesion DNA synthesis Non-homologous end joining |
| What are the mutation rates of humans/E.coli? | 1.2x10^-8 8.9x10^-11 |
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