Concepts of Genetics (11th Edition)
Concepts of Genetics (11th Edition)
11th Edition
ISBN: 9780321948915
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 14, Problem 3NST

HbS results from the substitution of valine for glutamic acid at the number 6 position in the β chain of human hemoglobin. HbC is the result of a change at the same position in the β chain, but in this case lysine replaces glutamic acid. Return to the genetic code table (Figure 13.7) and determine whether single-nucleotide changes can account for these mutations. Then view Figure 14.16 and examine the R groups in the amino acids glutamic acid, valine, and lysine. Describe the chemical differences between the three amino acids. Predict how the changes might alter the structure of the molecule and lead to altered hemoglobin function.

Hint: This problem asks you to consider the potential impact of several amino acid substitutions that result from mutations in one of the genes encoding one of the chains making up human hemoglobin. The key to its solution is to consider and compare the structure of the three amino acids (glutamic acid, lysine, and valine) and their net charge.

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Shown in the following table are several amino acid substitutionsin the a and b chains of human hemoglobin.  determine how many of them can occur as a result of a single nucleotide change.
HbS results from the substitution of valine forglutamic acid at the number 6 position in the b chainof human hemoglobin. HbC is the result of a change atthe same position in the  β chain, but in this case lysinereplaces glutamic acid. Return to the genetic code table and determine whether single-nucleotide changes can account for these mutations. Then view and examine the R groups in the amino acidsglutamic acid, valine, and lysine. Describe the chemicaldifferences between the three amino acids. Predict how thechanges might alter the structure of the molecule and leadto altered hemoglobin function.
Sickle cell disease is caused by a so-called “point mutation" in the human B-globin gene. A point mutation is the result of a single base substitution in the DNA encoding a gene. The sickle cell mutation results in substitution of Val for Glu at position 6 in the B-globin protein. (a) Using the information in Figure 5.18 explain how a point muta- tion could change a codon for Glu to a codon for Val. (b) Do you expect the pI for the sickle cell B-globin to be higher or lower than the pl for wild-type B-globin? Explain.

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Concepts of Genetics (11th Edition)

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