MCBG

Question 1

What is a Robertsonian translocation?

Answer 1

• A Robertsonian translocation is a translocation when one of the q arms from one chromosome joins to the q arm of another, thus creating a large, abnormal chromosome.
• can allow for trisomies with 46 chromosomes

Question 2

What is the Bohr effect?

Answer 2

• Increase in [CO2] or decrease in pH lowers affinity of Hb for O2
• shift curve to the right
• causes greater dissociation in the tissues as metabolically active tissues produce large amounts of H+ and CO2

Question 3

What is a frameshift mutation?

Answer 3

• Frameshift mutation is a change in the base sequence that leads to an alteration in the reading frame of the mRNA on translation
• Can result in premature stop codon of important proteins

Question 4

How does galactosemia cause cataracts?

Answer 4

1. galactose not broken down and converted to galactosemia
2. requires conversion of NADPH to NADP+ = NADPH depletion
3. NADPH required for maintenance of free sulphydryl groups = formation of disulphide bonds
4. causing cataract in eye