Multiple Choice
Which of the following is true regarding genomic genetic variations?
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4. DNA, Chromosomes, and Genomes
Human Genetic Variation
Multiple Choice
In the context of human genetic variation, sickle cell anemia is primarily caused by which type of mutation in the HBB gene?
A
Nonsense mutation (single-nucleotide substitution that creates a premature stop codon)
B
Frameshift mutation (insertion or deletion that alters the reading frame)
C
Chromosomal inversion (reversal of a large segment within a chromosome)
D
Missense point mutation (single-nucleotide substitution that changes one amino acid)
Verified step by step guidance1
Understand the types of mutations listed: a nonsense mutation introduces a premature stop codon, a frameshift mutation alters the reading frame by insertions or deletions, a chromosomal inversion reverses a large segment of a chromosome, and a missense mutation is a single-nucleotide substitution that changes one amino acid in the protein sequence.
Recall that sickle cell anemia is caused by a specific change in the hemoglobin beta (HBB) gene, which affects the hemoglobin protein's structure and function.
Identify that the mutation responsible for sickle cell anemia is a single-nucleotide substitution that changes one amino acid in the hemoglobin protein, specifically the substitution of valine for glutamic acid at position 6.
Recognize that this type of mutation is classified as a missense point mutation because it changes the codon to code for a different amino acid rather than creating a stop codon or shifting the reading frame.
Conclude that among the options given, the missense point mutation best explains the genetic cause of sickle cell anemia.
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