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Biochemistry General 1b969fbf

A 10 year old female patient complains of tiredness and shortness of breath. Patient is a known case of beta-thalassemia. This disease is caused by faulty splicing of:

A
hnRNA
B
snRNA
C
scRNA
D
snoRNA
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 p-chain of hemoglobin, and consequently the disease p-thalassemia. Note:  scRNA - Small cytoplasmic RNA snoRNA - Small nucleolar RNA snRNA - Small nuclear RNA hnRNA - Heterogenous nuclear RNA Satyanarayana- Biochemistry, 3rd edition, pg-549

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