A 10 year old female patient complains of tiredness and shortness of breath. Patient is a known case of beta-thalassemia. Which of the following can cause this disease?
Correct Answer: Faulty splicing
Description: Faulty splicing can cause diseases : Splicing of hnRNA has to be performed with precision to produce functional mRNA. Faulty splicing may result in diseases. A good example is one type of beta-thalassemia in humans. This is due to a mutation that results in a nucleotide change at an exon-intron junction. The result is a diminished or lack of synthesis of beta-chain of hemoglobin and consequently the disease beta-thalassemia.
Satyanarayana- Biochemistry, 3rd edition, pg-549
Category:
Biochemistry
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