5 Questions
What percentage of genetic diseases are caused by mutations affecting RNA splicing?
15%
Which type of mutation in the haemoglobin gene causes β0 thalassemia?
Homozygous mutation in the 3' intronic splice junction sequence
What is the result of a point mutation that changes the polyadenylation signal site of the hemoglobin gene from AAUAAA to AACAAA?
β+ thalassemia
What is the consequence of homozygous mutations in the 5' intronic splice junction sequences of the haemoglobin gene?
β0 thalassemia
What is the consequence of homozygous mutations in the 3' intronic splice junction sequences of the haemoglobin gene?
β0 thalassemia
Test your knowledge on the impact of splice site mutations with this quiz focused on Anne Niemick's research. Discover how mutations affecting RNA splicing can cause genetic diseases and learn about the specific example of β-thalassemia. Challenge yourself to understand the consequences of different mutations and the resulting effects on normal splicing.
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