Case Studies Of Human Genetic Variation In Health

Question 1

We can detect disease gene by functional or positional cloning. Explain the two.

Answer 1

Functional - knowledge of primary biochemical defect in disease helps ID disease eg. sickle cell anaemia is due to mutation in Hb gene

Positional - position of disease gene in genome helps us ID disease gene eg. DMD due to RFLP (restriction fragment polymorphism) at Xp21 gene