Origin Of Molecular Medicine

Question 1

Who established the basis for genetic pathology?

Answer 1

Mendel

Question 2

Describe the patter of inheritance of sickle cell anemia, and which chain is the mutation found in?

Answer 2

By 1910 it was established to be inherited in an autosomal recessive pattern
It is due to a utation in the HBB gene coding for the B-chain of Hb.

Question 3

Describe the research of L. Pauling

Answer 3

L. Pauling extracted sickle cell Hb, ran electrophoresis and chromatography and outlined the physico-chemical characterisics between this Hb and the normal one –> began molecular medicine

Question 4

What were the results of Pauling’s research?

Answer 4

The idea that the difference between healthy and sickle cell Hb were due to differences in the Hb chain and not in the heme group

Question 5

Who confirmed Pauling’s Hypothesis? Explain how.

Answer 5

Confirmation was given by Vernon Ingram (Cambridge) who demonstrated a single aa substitution in the B-chain (Glu-Val) - resulting in a less soluable and more ridid molecule