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Higher Human 1.4
1.4- Mutations
| Question | Answer |
|---|---|
| Describe the chromosome mutation- Translocation? | where a section of a chromosome is added to a chromosome, not its homologous partner. |
| Describe the chromosome mutation- Inversion? | where a section of chromosome is reversed |
| Describe the chromosome mutation- Deletion? | where a section of a chromosome is removed. |
| Describe the chromosome mutation- Duplication? | where a section of a chromosome is added from its homologous partner |
| What type of mutation is where a section of a chromosome is added to a chromosome, not its homologous partner? | translocation |
| What type of mutation is where a section of chromosome is reversed? | inversion |
| What type of mutation is where a section of a chromosome is removed? | deletion |
| What type of mutation is where a section of a chromosome is added from its homologous partner? | Duplication |
| What type of mutation causes a point mutation? | Nucleotide substitution |
| What do we call a random change in genetic material that can result in no protein or altered protein being synthesised? | mutation |
| What type of mutations involve the alteration of a chromosome? | single gene mutations |
| What type of mutation result in one amino acid being changed for another? | Missense |
| What type of mutation result in a premature stop codon being produced which results in a shorter protein? | Nonsense |
| What type of mutation can result in missense, nonsense and splice-site mutations? | Nucleotide substitution |
| What type of mutation causes a frame-shift mutation? | Nucleotide Insertions + Nucleotide deletion |
| What type of mutation cause all of the codons and all of the amino acids after the mutation to be changed? | frame-shift |
| What type of mutation results in some introns being retained and/or some exons not being included in the mature transcript? | splice-site |
| What type of mutation causes sickle-cell disease? | Missense |
| What type of mutation causes phenylketonuria (PKU)? | Missense |
| What type of mutation causes Duchenne muscular dystrophy? | Nonsense |
| What type of mutation causes beta thalassemia? | splice-site |
| What type of mutation causes Tay-Sachs disease? | Frameshift- insertion |
| What type of mutation causes cystic fibrosis? | frameshift- deletion |
Created by:
mackas89
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