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:
Correct Answer: hnRNA
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 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
Category:
Biochemistry
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