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Biochemistry General 2adc0916

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?

A
Terminal base addition
B
Faulty splicing
C
Terminal base deletion
D
None of the above
High-Yield Explanation
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

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