1. The mutation is a point mutation (specifically, a substitution) because only one nucleotide in the DNA sequence has been changed.
2. The mutation changes the codon from GAG to GUG, which alters the amino acid from Glutamic Acid (Glu) to Valine (Val).
3. This change in the amino acid sequence alters the structure and function of the hemoglobin protein, leading to sickle cell anemia.
4. The mutated mRNA sequence is: GUG GAC CUC UUA GAA GUA.
5. The mutated amino acid sequence is: Val-Asp-Leu-Leu-Glu-Val.
6. The mutation is harmful because it causes the red blood cells to become sickle-shaped, leading to blocked blood flow, pain, and organ damage.
7. The mutation is inherited in an autosomal recessive pattern; an individual must inherit two copies of the mutated gene (one from each parent) to have the disease.
8. Individuals with one copy of the mutated gene are carriers (heterozygous) and typically do not show symptoms but can pass the gene to their offspring.
9. The mutation provides a selective advantage in regions where malaria is prevalent because carriers have some resistance to malaria.
10. The mutation is a frameshift mutation if more than one nucleotide is inserted or deleted, but in this case, it is a substitution, so it is not a frameshift mutation.
Parent Tip: Review the logic above to help your child master the concept of mutations worksheet answers biology.
