Identify several ways in which the study of hemoglobin variants led to an understanding of the molecular relationship

among genes, proteins, and human disease. What will be an ideal response?


ANSWER: The discovery of variations in the amino acid composition of hemoglobin was the first
example of inherited variations in protein structure. The altered hemoglobin in sickle cell
anemia provided the first direct proof that mutations result in a change in the amino acid
sequence of proteins. Also, the mutation in sickle cell anemia provided evidence that a
change in a single nucleotide is sufficient to cause a genetic disorder. The molecular
organization of the globin gene clusters has helped scientists understand how genes evolve
and how gene expression is regulated.

Biology & Microbiology

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