Defect in Snurps causes?
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.
Sickle cell anemia
Thalassemia
Marfan syndrome
EDS