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The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions. Let us assume that if at least 5% normal channels are present, the affected individual has mild symptoms of cystic fibrosis. Having less than 5% normal channels produces severe symptoms. At least 50% of the channels must be expressed for the individual to be phenotypically normal. This gene has various mutant recessive alleles: Predict the percent of functional channels and severity of symptoms for the following genotypes: a. heterozygous for CF100 b. homozygous for CF100 c. heterozygous, with one copy of CF100 and one of CF3 d. heterozygous, with one copy of CF1 and one copy of CF3

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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 11, Problem 20QP
Textbook Problem
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The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions. Let us assume that if at least 5% normal channels are present, the affected individual has mild symptoms of cystic fibrosis. Having less than 5% normal channels produces severe symptoms. At least 50% of the channels must be expressed for the individual to be phenotypically normal. This gene has various mutant recessive alleles:

Chapter 11, Problem 20QP, The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions.

Predict the percent of functional channels and severity of symptoms for the following genotypes:

  1. a. heterozygous for CF100
  2. b. homozygous for CF100
  3. c. heterozygous, with one copy of CF100 and one of CF3
  4. d. heterozygous, with one copy of CF1 and one copy of CF3

a.

Summary Introduction

To explain:  The percentage of functional channels and the severity of the symptoms for the heterozygotes for CF100.

Introduction: Cystic fibrosis is the autosomal recessive condition in which mutation occurs in both copies of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. In it, the chloride channels of the individual are affected.

Explanation of Solution

In the case of heterozygotes for allele CF100, one copy of the gene (CF100) is mutated while another copy of the gene is normal. It is an autosomal recessive condition, so the individual will ...

b.

Summary Introduction

To explain: The percentage of functional channels and the severity of the symptoms for the homozygotes for CF100.

Introduction: Cystic fibrosis is the genetic condition in which mutation occurs in both copies of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. In it, chloride channels of the individual are affected.

c.

Summary Introduction

To explain: The percentage of functional channels and the severity of the symptoms for the heterozygotes, with one copy of CF100 and one copy of CF3.

Introduction: Cystic fibrosis is the genetic condition in which mutation occurs in both copies of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. In it, the chloride channels of the individual are affected.

d.

Summary Introduction

To explain: The percentage of functional channels and the severity of the symptoms for the heterozygotes, with one copy of CF1 and one copy of CF3.

Introduction: Cystic fibrosis is the genetic condition in which mutation occurs in both copies of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. In it, the chloride channels of the individual are affected.

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