Defect in Snurps causes?
Correct Answer: Thalassemia
Description: Defective splicing (defect in snurps) is the most common mutation causing thalassemia. Molecular defect in pathogensis of thalassemia:? A) b-Thalassemia Most common type of genetic abnormality in b-thalassemia is point mutation i.e., nonsense. Some may also occur due to deletion or inseion i.e., frame shift mutations. Defect may occur at different steps of b-chain synthesis: i) Splicing mutations Mutations leading to aberrant splicing are the most common cause of P-thalassemia. ii) Chain terminator mutations This cause premature termination of mRNA translation. iii) Promoter region mutations This results in transcription defect. B) a-Thalassemia The most common cause of reduced a-chain synthesis is deletion of a-globin genes. Rarely nonsense mutation may also cause a-thalassemia.
Category:
Biochemistry
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now