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Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
Publisher: Cengage Learning
ISBN: 9781305251052

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BuyFindarrow_forward

Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
Publisher: Cengage Learning
ISBN: 9781305251052
Chapter 18, Problem 6QP
Textbook Problem
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What type of mutation causes Huntington disease? How does this mutation result in neurodegeneration?

Summary Introduction

To determine: The type of mutation which causes Huntington disease.

Introduction: Accumulation of misfolded proteins in the brain can lead to brain cell death and can cause several neurodegenerative disorders. Huntington disease (HD) is a neurodegenerative disorder which is inherited as an autosomal dominant trait. Cognition inability, emotional problems, and uncontrolled movements are the symptoms of HD.

Explanation of Solution

The gene for HD is located on chromosome 4. HD is one of the neurodegenerative disorder which is caused by CAG triplet repeats. Mutant alleles carry more CAG triplet repeats than normal. This expansion of CAG triplet repeats leads to form many more copies of glutamine residue...

Summary Introduction

To determine: The result of this mutation that results in neurodegeneration.

Introduction: Accumulation of misfolded proteins in the brain can lead to brain cell death and can cause several neurodegenerative disorders. Huntington disease (HD) is a neurodegenerative disorder which is inherited as an autosomal dominant trait. Cognition inability, emotional problems, and uncontrolled movements are the symptoms of HD.

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