Mutations in the B-globin gene can cause B-thalassemias. When no B-globin is pro
ID: 32707 • Letter: M
Question
Mutations in the B-globin gene can cause B-thalassemias. When no B-globin is produced thedisorder is called B0- thalassemia, and when functional B-globin is just reduced but noteliminated the disorder is called B+-thalassemia. Which of the two types of thalassemias (B0 or B+) would the following mutations cause?
a) A non-sense mutation in the first exon of the gene.
b) A frameshift mutation in the first exon of the gene.
c) A mutation in an intron that prevents removal of this intron.
d) A mutation in the polyadenylation signal that decreases processing of the pre-mRNA.
Explanation / Answer
Mutations in the B-globin gene can cause B-thalassemias. When no B-globin is produced the disorder is called B0- thalassemia, and when functional B-globin is just reduced but not eliminated the disorder is called B+-thalassemia.
A non-sense mutation in the first exon of the gene causes B0 thalassemia.
A frameshift mutation in the first exon of the gene causes B+ thalassemia.
A mutation in an intron that prevents removal of this intron causes B0 thalassemia.
A mutation in the polyadenylation signal that decreases processing of the pre-mRNA causes B+ thalassemia.
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