Human Heredity: Principles and Issues (MindTap Course List)
Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 9, Problem 21QP
Summary Introduction

To explain: The reason which elaborates that none of the mutant protein product ends up in the cell’s plasma membrane during the cystic fibrosis.

Introduction: The cystic fibrosis is a disorder that mainly affects the lungs, but it also affects the liver, pancreas, and kidneys. The person having cystic fibrosis will have difficulty in breathing due to the development of mucus in the lungs.

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In Cystic Fibrosis, what are the normal and mutated protein function?
Name conditions caused by abnormalities of vertical linkages and horizontal (lateral) linkages in RBC transmembrane and cytoskeletal proteins.
When human hemoglobin undergoes a mutation, the mutant protein usually does not replace all of the normal HbA in the red blood cells or erythrocytes of the individual. The erythro- cytes contain mixtures of varying amounts of both HbA and the mutant protein depending on the mutation and the individual. Hb Yakima is a mutant human Hb with an Asp-(B99)His mutation. The diagram on the right shows that Hb Yakima was separated by DEAE-cellulose chromatography from HbA with a 0 – 0.1 M linear gradient of NaCl buffered to pH 8.3. Why is chromatog- raphy carried out at pH 8.3? If the isoelectric point of HbA is 6.85, what is the change in total charge caused by the mutation?How does the change in charge explain the chromatography elution profile of the Hb Yakima/HbA mixture? 1,5 -Hb-A Hb -Yakima 1.0 0.5- 20 40 60 80 00 Fraction number O.D578 nm

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Human Heredity: Principles and Issues (MindTap Course List)

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