Genetics, populations, evolution and ecosystems Flashcards
1
Q
Genetic mutations
- Insertion
A
- Causes a frameshift
- When a nucleotide is randomly
inserted into DNA sequence - Affects function of polypeptide
Cause Huntignton’s Disease
2
Q
Genetic mutations
- Substitution
A
- Where a DNA base/ nucleotide is swapped for a different one
- Silent substitution alters amino acid sequence
- Missense substitution alters single amino acid
- Nonsense substitution creates a premature stop codon
Cause Sickle Cell Anemia
3
Q
Genetic mutations
- Deletion
A
- Causes a frameshift
- A nucleotide is randomly deleted
- Affects function of polypeptide
Cause Cystic Fibrosis
4
Q
Genetic mutations
- Inversion
A
- A single gene is cut into 2 pieces, inverted 180° and rejoined
- Results in non functional protein
Cause Haemophilia A
5
Q
Genetic mutations
- Duplication
A
- One or more bases are duplicated in the DNA sequence
- Original gene is not changed
Cause Charcot- Marte Tooth Disease
6
Q
Genetic mutations
- Translocation
A
- A section of a chromosome is added to another chromosome which is not its homologous partner
- Philadelphia chromosome (22) found in Leukemia Cancer
Cause Cancer, Infertility and Down Syndrome