D1.3 Mutation & Gene Editing

Question 1

Why are knockout organisms useful to scientists studying the function of specific genes?

Answer 1

To study how a specific gene may cuase/contribute to human disease

Question 2

causes of mutation within a species

Answer 2

Meiosis, mutation and random fertilisation

Question 3

What happens during huntingtons disease

Answer 3

• trinucleotide repeat expansion
• many copies of CAG are added to HTT gene
• in chormosome 4

Question 5

Sickle Cell Anemia

Answer 5

• blood cells are in sickle shape instead of biconcave disk
• causes heart stroke/attack, bone malformation, pneumonia
• due to single base substitution of A to T
• 6th triplet changes from GAG (GLU) to GTG (VAL)
• prim & second structure of Beta subunit is altered
• quaternary structure of haemoglobin changes
• fibres are deformed

1. long fibres poke into cell membrane = distorts shape
2. ability to carry oxygen decreases
3. block blood vessels
4. puts strain on liver as it removes cells
5. bone marrow has to continuously produce more