Defect in Snurps causes-
Ans. is 'b' i.e., Thalassemiao Defective splicing (defect in snurps) is the most common mutation causing thalassemia,o Molecular defect in pathogens is of thalassemia:-b-Thalassemiao Most common type of genetic abnormality in b-thalassemia is point mutation i.e., nonsense.o Some may also occur due to deletion or insertion i.e., frame shift mutations,o Defect may occur at different steps of b-chain synthesis:i) Splicing mutationso Mutations leading to aberrant splicing are the most common cause of b-thalassemia.ii) Chain terminator mutationso This cause premature termination of mRNA translation.iii) Promoter region mutationso This results in transcription defect.a-Thalassemiao The most common cause of reduced a-chain synthesis is deletion of a-globin genes,o Rarely nonsense mutation may also cause a-thalassemia.
Sickle cell anemia
Thalassemia
Marfan syndrome
EDS
Molecular Genetics