Discussion
The disease which arises because of aberrant splicing is :
Answer: D
The disease arising from aberrant splicing is thalassemia.
Many β-thalassemia alleles are splicing mutations. Changes at the GT or AG splice sites abolish normal splicing, and others create new cryptic splice sites within the introns of the β-globin gene, so the mRNA is processed wrongly and little or no functional β-globin is made. It is the classic textbook example of disease caused by defective splicing.
Huntington's disease is caused by an expanded CAG repeat. Sickle cell anemia is a single missense mutation (Glu6Val) in β-globin. Cystic fibrosis is most often due to the ΔF508 deletion in CFTR, a protein-folding defect.
No comment is present. Be the first to comment.
Loading…
Post your comment
Please log in or register to post a comment.
Examination Categories
- SSC Exams
- Banking Exams
- Teaching Exams
- Civil Services Exams
- Railways Exams
- Engineering Recruitment Exams
- Defence Exams
- State Government Exams
- Police Exams
- Insurance Exams
- Nursing Exams
- Other Government Exams
- NRA CET
- PG Entrance Exams
- Campus Placement
- MBA Entrance Exams
- CUET and UG Entrance
- Judiciary Exams
- Regulatory Body Exams
- Software Development