Genetic Diversity Flashcards
What is a genetic mutation?
Any change to the quality or sequence of DNA
What is a germline mutation?
Change in the DNA base sequence of gametes
Who is affected by a germline mutation?
The offspring only
What is a somatic mutation?
Change in the DNA sequence in cell other than gametes
When do gene mutation occur?
During DNA replication randomly and spontaneously
Why do gene mutations occur during DNA replication?
Vulnerable to damage as DNA helicase has broken hydrogen bonds between the strands
What are the 2 types of gene mutation?
Base substitution and base deletion
What is base substitution?
DNA molecule is replaced by a different DNA molecule with a different base
What is the significance of base substitution?
- depends on role of amino acid
- can alter tertiary structure of a protein or could be part of an intron
How can base substitution lead to a non-functional protein/enzyme?
- base in DNA molecule has been replaced with a different base
- sequence of amino acids altered
- alters tertiary shape of protein/enzyme as different hydrogen bonds form
- active sit is no longer complementary to the substrate so no E- complex formed
What is base deletion?
A nucleotide is lost from the sequence so all bases shift to left so triplets are read wrong (frameshift)
How does a base deletion result in a non-functional protein/enzyme?
- DNA base has been lost from the sequence so all
- all bases shift left (frameshift)
- DNA bases read wrong
- change in amino acids altered sequence
- alters bonds in tertiary structure which alters shape
- enzyme no longer complementary to the substrate so no E-S complexes formed
What are the 2 types of chromosome mutations?
- changes to whole sets of chromosomes
- changes to individual chromosomes
How does a change to a whole sets of chromosomes occur and what is it called?
3 or more sets of chromosomes rather than the normal 2 (polyploidy)
How does changes to individual chromosomes occur?
- non-disjunction in meiosis as the individual chromosomes have failed to split
- gametes have either one more to one fewer chromosome
What does meiosis produce?
4 genetically different daughter cells each with half the number of chromosomes than the parent cell
What is a chromosome?
Thread like structure made up of protein and DNA that passes on hereditary material
What is a chromatid?
One of the 2 strands of a chromosome that are joined by a centromere