| Define 'point mutation' | A type of genetic mutation that involves a change in a single nucleotide base pair within a DNA sequence, which can result in altered protein production or function. |
| Define 'frameshift mutation' | A genetic alteration in which the addition or deletion of nucleotides shifts the reading frame of a gene, leading to a disruption in the coding sequence and often resulting in a nonfunctional or altered protein produced |
| Explain how cell division (wtih non-disjunction) can cause mutation. | Cell division with non-disjunction can lead to mutations by producing daughter cells with an abnormal number of chromosomes, disrupting the genetic balance and causing genetic disorders. |
| Explain how damage by mutagens (physical, including UV radiation, ionising radiation and heat and chemical) can cause mutation. | Damage by mutagens can cause mutations by disrupting the structure or sequence of DNA, leading to changes in the genetic code and potentially altering gene function or expression. |
| Explain how DNA replication (point and frameshift mutation) can cause mutation. | DNA replication errors like point mutations (single nucleotide changes) and frameshift mutations (insertions or deletions of nucleotides), can introduce alterations in the DNA sequence, leading to genetic mutations with potential effects on protein structure and function. |
| Explain how non-disjunction leads to aneuploidy | Homologous chromosomes or sister chromatids fail to separate during cell division, resulting in aneuploidy, which is an abnormal number of chromosomes in the resulting daughter cells. |
| Define a karyotype | A visual representation of an individual's chromosomes arranged in a specific order, showing the number, size, and structure of the chromosomes in a cell. |
| Provide one example of aneuploidy | Down syndrome (Trisomy 21) |
