HIS08 Part4 - beta thalassemia mutations (Q1)John has an intron 2-654 mutation at his β-globin gene. Which of the following statements concerning this mutation is CORRECT?Question 8Select one:The mutation destroys a normal splice sites to cause exon skipping.The mutation locates in the promoter region to attenuate gene transcription.The mutation creates new splice sites causing a new exon to be incorporated.

The correct statement concerning John's intron 2-654 mutation at his β-globin gene is: The mutation destroys a normal splice sites to cause exon skipping.

Here's why:

1. The mutation is located in intron 2-654 of the β-globin gene. Introns are non-coding regions of a gene that are transcribed into RNA but are removed during RNA splicing before translation into a protein.

2. A mutation in an intron can disrupt the normal splicing process. In this case, the mutation destroys a normal splice site.

3. When a splice site is destroyed, the splicing machinery may skip over the corresponding exon during RNA splicing. This is known as exon skipping.

4. Exon skipping can result in a shorter, often non-functional protein, which can lead to diseases such as beta thalassemia.

Therefore, the statement "The mutation destroys a normal splice sites to cause exon skipping" is correct. The mutation is not in the promoter region, which controls the start of transcription, so it does not attenuate gene transcription. Also, the mutation does not create new splice sites, so it does not cause a new exon to be incorporated.