Podcast
Questions and Answers
What percentage of genetic diseases are caused by mutations affecting RNA splicing?
What percentage of genetic diseases are caused by mutations affecting RNA splicing?
- 5%
- 10%
- 15% (correct)
- 20%
Which type of mutation in the haemoglobin gene causes β0 thalassemia?
Which type of mutation in the haemoglobin gene causes β0 thalassemia?
- Point mutation in the coding sequence
- Heterozygous mutation in the 5' intronic splice junction sequence
- Homozygous mutation in the 5' intronic splice junction sequence
- Homozygous mutation in the 3' intronic splice junction sequence (correct)
What is the result of a point mutation that changes the polyadenylation signal site of the hemoglobin gene from AAUAAA to AACAAA?
What is the result of a point mutation that changes the polyadenylation signal site of the hemoglobin gene from AAUAAA to AACAAA?
- Hemophilia
- Sickle cell anemia
- β0 thalassemia
- β+ thalassemia (correct)
What is the consequence of homozygous mutations in the 5' intronic splice junction sequences of the haemoglobin gene?
What is the consequence of homozygous mutations in the 5' intronic splice junction sequences of the haemoglobin gene?
What is the consequence of homozygous mutations in the 3' intronic splice junction sequences of the haemoglobin gene?
What is the consequence of homozygous mutations in the 3' intronic splice junction sequences of the haemoglobin gene?