The ways by which a dominant mutation originate a developmental malformation in some cases while nonpenetrant in others. Introduction: In humans, HOXD genes are essential in limb development. An analysis of several families with malformations known as rocker bottom foot or claw foot revealed that rocker bottom foot has an autosomal dominant form of inheritance with variable expressivity and incomplete penetrance.

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Answer 1

Question

Chapter 23, Problem 1CS

a.

Summary Introduction

To determine: The ways by which a dominant mutation originate a developmental malformation in some cases while nonpenetrant in others.

Introduction: In humans, HOXD genes are essential in limb development. An analysis of several families with malformations known as rocker bottom foot or claw foot revealed that rocker bottom foot has an autosomal dominant form of inheritance with variable expressivity and incomplete penetrance.

(b)

Summary Introduction

To determine: The ways by which variable expressivity leads in two different disorders from the same mutation.

Introduction: The penetrance of the mutation is defined as the percentage of individuals that show some degree of expression of the mutant genotype. By contrast, the expressivity defines the range of expression of the mutant genotype.

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Here is a family pedigree for an imprinting disorder caused by a loss of function mutation in a single imprinted gene. After generation I only related individuals are shown. You can assume that the parents not included in the pedigree did not carry the mutation. %3D II IV V Male O Female Affected Carrier a) Does the mutation involve a gene that is normally expressed from the maternal or from the paternal allele? Briefly explain your logic. b) Identify two ways in which the pattern of inheritance shown in the pedigree is different from X-linked inheritance I. Parthenogenesis has been documented in most vertebrate Classes (e.g. birds, fish) but never in mammals. Genomic imprinting provides one explanation for this observation. Why?

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In a woman who is a carrier of a mutant OTC deficiency allele, her sons who receive the mutant allele will be affected and her daughters will be carriers who may or may not be symptomatic, depending on random X inactivation in the liver. 1) Is this a single gene inheritance or multifactorial disease? 2) Is there a strong genetic or environmental cause to the development of this disease? If both genetic and environmental causes are implicated, you have to indicate each of them separately.

Answer 2

Question

Chapter 23, Problem 1CS

a.

Summary Introduction

To determine: The ways by which a dominant mutation originate a developmental malformation in some cases while nonpenetrant in others.

Introduction: In humans, HOXD genes are essential in limb development. An analysis of several families with malformations known as rocker bottom foot or claw foot revealed that rocker bottom foot has an autosomal dominant form of inheritance with variable expressivity and incomplete penetrance.

(b)

Summary Introduction

To determine: The ways by which variable expressivity leads in two different disorders from the same mutation.

Introduction: The penetrance of the mutation is defined as the percentage of individuals that show some degree of expression of the mutant genotype. By contrast, the expressivity defines the range of expression of the mutant genotype.

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Answer 3

Question

Chapter 23, Problem 1CS

a.

Summary Introduction

To determine: The ways by which a dominant mutation originate a developmental malformation in some cases while nonpenetrant in others.

Introduction: In humans, HOXD genes are essential in limb development. An analysis of several families with malformations known as rocker bottom foot or claw foot revealed that rocker bottom foot has an autosomal dominant form of inheritance with variable expressivity and incomplete penetrance.

(b)

Summary Introduction

To determine: The ways by which variable expressivity leads in two different disorders from the same mutation.

Introduction: The penetrance of the mutation is defined as the percentage of individuals that show some degree of expression of the mutant genotype. By contrast, the expressivity defines the range of expression of the mutant genotype.

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Answer 4

Question

Chapter 23, Problem 1CS

a.

Summary Introduction

To determine: The ways by which a dominant mutation originate a developmental malformation in some cases while nonpenetrant in others.

Introduction: In humans, HOXD genes are essential in limb development. An analysis of several families with malformations known as rocker bottom foot or claw foot revealed that rocker bottom foot has an autosomal dominant form of inheritance with variable expressivity and incomplete penetrance.

(b)

Summary Introduction

To determine: The ways by which variable expressivity leads in two different disorders from the same mutation.

Introduction: The penetrance of the mutation is defined as the percentage of individuals that show some degree of expression of the mutant genotype. By contrast, the expressivity defines the range of expression of the mutant genotype.

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Answer 5

Chapter 23, Problem 1CS

a.

Summary Introduction

To determine: The ways by which a dominant mutation originate a developmental malformation in some cases while nonpenetrant in others.

Introduction: In humans, HOXD genes are essential in limb development. An analysis of several families with malformations known as rocker bottom foot or claw foot revealed that rocker bottom foot has an autosomal dominant form of inheritance with variable expressivity and incomplete penetrance.

(b)

Summary Introduction

To determine: The ways by which variable expressivity leads in two different disorders from the same mutation.

Introduction: The penetrance of the mutation is defined as the percentage of individuals that show some degree of expression of the mutant genotype. By contrast, the expressivity defines the range of expression of the mutant genotype.

Answer 6

Chapter 23, Problem 1CS

a.

Summary Introduction

To determine: The ways by which a dominant mutation originate a developmental malformation in some cases while nonpenetrant in others.

Introduction: In humans, HOXD genes are essential in limb development. An analysis of several families with malformations known as rocker bottom foot or claw foot revealed that rocker bottom foot has an autosomal dominant form of inheritance with variable expressivity and incomplete penetrance.

Answer 7

Chapter 23, Problem 1CS

a.

Summary Introduction

To determine: The ways by which a dominant mutation originate a developmental malformation in some cases while nonpenetrant in others.

Introduction: In humans, HOXD genes are essential in limb development. An analysis of several families with malformations known as rocker bottom foot or claw foot revealed that rocker bottom foot has an autosomal dominant form of inheritance with variable expressivity and incomplete penetrance.

Answer 8

(b)

Summary Introduction

To determine: The ways by which variable expressivity leads in two different disorders from the same mutation.

Introduction: The penetrance of the mutation is defined as the percentage of individuals that show some degree of expression of the mutant genotype. By contrast, the expressivity defines the range of expression of the mutant genotype.

Answer 9

(b)

Summary Introduction

To determine: The ways by which variable expressivity leads in two different disorders from the same mutation.

Introduction: The penetrance of the mutation is defined as the percentage of individuals that show some degree of expression of the mutant genotype. By contrast, the expressivity defines the range of expression of the mutant genotype.

Answer 10

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Answer 11

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Answer 12

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Answer 13

Ch. 23 - Suppose you initiate a screen for maternal-effect...Ch. 23 - Prob. 2NST Ch. 23 - Prob. 1CS Ch. 23 - Prob. 2CS Ch. 23 - Prob. 1PDQ Ch. 23 - Prob. 2PDQ Ch. 23 - Prob. 3PDQ Ch. 23 - Nuclei from almost any source may be injected into...Ch. 23 - Distinguish between the syncytial blastoderm stage...Ch. 23 - Prob. 6PDQ

Solution Summary: The author analyzes how a dominant mutation causes developmental malformations in some cases, while nonpenetrant in others, because it's located in the homeodomain recognition sequence.

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