Multiple Choice
Which of the following terms associated with transcription describes regions of nucleic acid?
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3. Extensions to Mendelian Inheritance
Overview of interacting Genes
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Which of the following statements regarding sickle cell disease is correct?
A
The mutation responsible for sickle cell disease leads to increased oxygen affinity of hemoglobin.
B
Individuals with sickle cell trait (heterozygotes) typically exhibit severe symptoms of the disease.
C
Sickle cell disease is inherited in an autosomal dominant manner.
D
Sickle cell disease is caused by a single nucleotide substitution in the beta-globin gene.
Verified step by step guidance1
Step 1: Understand the genetic basis of sickle cell disease. It is caused by a mutation in the beta-globin gene, which encodes part of the hemoglobin protein. Specifically, this mutation is a single nucleotide substitution that changes one amino acid in the hemoglobin protein.
Step 2: Review the effect of the mutation on hemoglobin function. The mutation causes hemoglobin to polymerize under low oxygen conditions, leading to the characteristic sickling of red blood cells. This does not increase oxygen affinity; rather, it decreases the flexibility and normal function of hemoglobin.
Step 3: Consider the inheritance pattern. Sickle cell disease is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene to exhibit the full disease symptoms. Heterozygotes (carriers) usually have sickle cell trait and typically do not show severe symptoms.
Step 4: Evaluate the statements given in the problem. The correct statement should reflect the molecular cause (single nucleotide substitution in the beta-globin gene) and the inheritance pattern (autosomal recessive), as well as the typical clinical presentation of heterozygotes.
Step 5: Conclude that the correct answer is the statement indicating that sickle cell disease is caused by a single nucleotide substitution in the beta-globin gene, as this accurately describes the molecular genetic cause of the disease.
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