Question
The human B-globin wild type allele and a certain mutant allele are identical in sequence except for a single base pair substitution that changes one nucleotide at the end of intron 2 (inside the intron). a) Speculate about the way in which this base substitution causes a mutation of the B-globin protein.
Answer
The base substitution within the intron is unlikely to affect the amino acid sequence of the protein; however, it may affect the splicing of the RNA, which could result in a truncated or non-functional protein.
- Q: What is an intron? A: An intron is a non-coding sequence of DNA found within a gene.
- Q: What is the function of an intron? A: The function of an intron is to be transcribed into RNA but then are spliced out of the RNA sequence during RNA processing.
- Q: What is a mutation? A: A mutation is a permanent alteration in the DNA sequence that makes up a gene.
- Q: Given that the base substitution occurs within an intron, how do you think it might affect the resulting protein? A: The base substitution within the intron is unlikely to affect the amino acid sequence of the protein; however, it may affect the splicing of the RNA, which could result in a truncated or non-functional protein.