Chapter 5, Problem 17P

Interpretation Introduction

(a) Interpretation:

Mutation in the human $\beta$ -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 $\beta$ - 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:

$\beta$ - 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:

Interpretation Introduction

(b) Interpretation:

Mutation in the human $\beta$ -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 $\beta$ - globin protein. By using this information, it has to be explainedwhether the pl for the sickle-cell $\beta$ - globin will be higher or lower than the pl for wild-type $\beta$ - globin.

Concept Introduction:

$\beta$ - 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.