The beta-globin gene from a thalassemic patient was cloned and sequenced. The technician who characterized this gene informs you that a point mutation was found, but that it can not account for the thalassemia because the mutation occurred within an intron sequence. What doesn't the technician understand?

Question

Quizplus · Accepted Answer

The technician doesn't understand that certain intron sequences are absolute requirements for splicing. These sequences are recognized by the spliceosome and are essential for the proper splicing of the pre-mRNA into the mature mRNA. Mutations in these sequences can result in aberrant splicing, which can lead to diseases such as thalassemia. Therefore, even though the mutation occurred within an intron, it could still be responsible for the thalassemia if it disrupted an essential splicing sequence.

The Beta-Globin Gene from a Thalassemic Patient Was Cloned and Sequenced