Biochemistry: Concepts and Connections (2nd Edition)
Biochemistry: Concepts and Connections (2nd Edition)
2nd Edition
ISBN: 9780134641621
Author: Dean R. Appling, Spencer J. Anthony-Cahill, Christopher K. Mathews
Publisher: PEARSON
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Chapter 5, Problem 17P
Interpretation Introduction

(a) Interpretation:

Mutation in the human β -globin gene causes sickle-cell disease. A point mutation is the result of a single base substitution in DNA encoding a gene. The sickle- cell mutation results in the substitution of Val for Glu at position 6 in the β - globin protein. By using this information, it has to be explained as to how a point mutation could change a codon for Glu to a codon for Val.

Concept introduction:

β - globin is also known as HBB hemoglobin. The most common form of hemoglobin is made from alpha and beta globin. It contains 146 amino acids linked together to form a long chain.

Pictorial representation:

Biochemistry: Concepts and Connections (2nd Edition), Chapter 5, Problem 17P

Interpretation Introduction

(b) Interpretation:

Mutation in the human β -globin gene caused sickle-cell disease. A point mutation is the result of a single base substitution in DNA encoding a gene. The sickle- cell mutation results in the substitution of Val for Glu at position 6 in the β - globin protein. By using this information, it has to be explainedwhether the pl for the sickle-cell β - globin will be higher or lower than the pl for wild-type β - globin.

Concept Introduction:

β - globin is also known as HBB hemoglobin. The most common form of hemoglobin is made from alpha and beta globin. It contains 146 amino acids linked together to form a long chain.

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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY