The unusual features that distinguishes this pedigree from other pedigree charts. Introduction. The genes are the sequence of nucleotides that are present on the chromosomes and encode for a specific protein that plays a crucial role in the functioning of the different processes in an organism. The gene is located at specific gene loci and can be structural or regulatory in nature

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Answer 1

Question

Chapter 3, Problem 51P

a.

Summary Introduction

To determine: The unusual features that distinguishes this pedigree from other pedigree charts.

Introduction. The genes are the sequence of nucleotides that are present on the chromosomes and encode for a specific protein that plays a crucial role in the functioning of the different processes in an organism. The gene is located at specific gene loci and can be structural or regulatory in nature

b.

Summary Introduction

To determine: The site of mutant DNA responsible for this phenotype in the cell.

Introduction. The mutation is the change in the nucleotide sequence of the gene, which results in either the formation of a defective protein or no protein at all. The mutation can also alter the regulation of certain genes leading to their hyperactivity or hypoactivity.

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A. Look at the pedigree, and DISREGARD individual II-8 for the moment. Is the pattern of inheritance of Unetan syndrome dominant or recessive? You may assume that the gene is FULLY-PENETRANT in this family. Please give two specific reasons that support your conclusion. B. Now, looking at BOTH the pedigree AND at the Southern blot, is this trait autosomal, X-linked, or Y-linked? Please give two specific reasons that support your conclusion. Once again, disregard II-8 for the moment. One of your two reasons must refer specifically to evidence present in the Southern blot. C. Define the gene alleles associated with Unetan syndrome. Your alleles MUST be consistent with the pattern of inheritance, AND your genetic notation must be consistent with that used throughout the course. Unetan syndrome allele: ________ Normal allele: ________

Complementation tests of distinct recessive mutants, 1 through 8, produce the data in the matrix below. A plus (+) indicates complementation, meaning the phenotype of the combined alleles is wild type, and a minus (-) indicates a failure to complement meaning that a mutant phenotype results. Assume that the missing mutant combinations would yield data consistent with the entries that are shown. How many complementation groups are formed by these eight mutants? (Picture attached) A) 2 B) 3 C) 4 D) 5 E) 6

A normal appearing female infant was identified with a positive newborn screen, linked to chromosome 12. Few years ago, her older sibling had developed profound hypoglycemia, liver failure leading to coma, and subsequent irreparable brain damage, following a viral illness. The sibling was subsequently shown by clinical testing to have the same disorder that this female infant is screened positive for. a. What is the most likely diagnosis? b. What biomarkers would confirm this on the newborn screening process? Describe the mechanism that causes this metabolic defect.

Answer 2

Question

Chapter 3, Problem 51P

a.

Summary Introduction

To determine: The unusual features that distinguishes this pedigree from other pedigree charts.

Introduction. The genes are the sequence of nucleotides that are present on the chromosomes and encode for a specific protein that plays a crucial role in the functioning of the different processes in an organism. The gene is located at specific gene loci and can be structural or regulatory in nature

b.

Summary Introduction

To determine: The site of mutant DNA responsible for this phenotype in the cell.

Introduction. The mutation is the change in the nucleotide sequence of the gene, which results in either the formation of a defective protein or no protein at all. The mutation can also alter the regulation of certain genes leading to their hyperactivity or hypoactivity.

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Answer 3

Question

Chapter 3, Problem 51P

a.

Summary Introduction

To determine: The unusual features that distinguishes this pedigree from other pedigree charts.

Introduction. The genes are the sequence of nucleotides that are present on the chromosomes and encode for a specific protein that plays a crucial role in the functioning of the different processes in an organism. The gene is located at specific gene loci and can be structural or regulatory in nature

b.

Summary Introduction

To determine: The site of mutant DNA responsible for this phenotype in the cell.

Introduction. The mutation is the change in the nucleotide sequence of the gene, which results in either the formation of a defective protein or no protein at all. The mutation can also alter the regulation of certain genes leading to their hyperactivity or hypoactivity.

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Answer 4

Question

Chapter 3, Problem 51P

a.

Summary Introduction

To determine: The unusual features that distinguishes this pedigree from other pedigree charts.

Introduction. The genes are the sequence of nucleotides that are present on the chromosomes and encode for a specific protein that plays a crucial role in the functioning of the different processes in an organism. The gene is located at specific gene loci and can be structural or regulatory in nature

b.

Summary Introduction

To determine: The site of mutant DNA responsible for this phenotype in the cell.

Introduction. The mutation is the change in the nucleotide sequence of the gene, which results in either the formation of a defective protein or no protein at all. The mutation can also alter the regulation of certain genes leading to their hyperactivity or hypoactivity.

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Answer 5

Chapter 3, Problem 51P

a.

Summary Introduction

To determine: The unusual features that distinguishes this pedigree from other pedigree charts.

Introduction. The genes are the sequence of nucleotides that are present on the chromosomes and encode for a specific protein that plays a crucial role in the functioning of the different processes in an organism. The gene is located at specific gene loci and can be structural or regulatory in nature

b.

Summary Introduction

To determine: The site of mutant DNA responsible for this phenotype in the cell.

Introduction. The mutation is the change in the nucleotide sequence of the gene, which results in either the formation of a defective protein or no protein at all. The mutation can also alter the regulation of certain genes leading to their hyperactivity or hypoactivity.

Answer 6

Chapter 3, Problem 51P

a.

Summary Introduction

To determine: The unusual features that distinguishes this pedigree from other pedigree charts.

Introduction. The genes are the sequence of nucleotides that are present on the chromosomes and encode for a specific protein that plays a crucial role in the functioning of the different processes in an organism. The gene is located at specific gene loci and can be structural or regulatory in nature

Answer 7

Chapter 3, Problem 51P

a.

Summary Introduction

To determine: The unusual features that distinguishes this pedigree from other pedigree charts.

Introduction. The genes are the sequence of nucleotides that are present on the chromosomes and encode for a specific protein that plays a crucial role in the functioning of the different processes in an organism. The gene is located at specific gene loci and can be structural or regulatory in nature

Answer 8

b.

Summary Introduction

To determine: The site of mutant DNA responsible for this phenotype in the cell.

Introduction. The mutation is the change in the nucleotide sequence of the gene, which results in either the formation of a defective protein or no protein at all. The mutation can also alter the regulation of certain genes leading to their hyperactivity or hypoactivity.

Answer 9

b.

Summary Introduction

To determine: The site of mutant DNA responsible for this phenotype in the cell.

Introduction. The mutation is the change in the nucleotide sequence of the gene, which results in either the formation of a defective protein or no protein at all. The mutation can also alter the regulation of certain genes leading to their hyperactivity or hypoactivity.

Answer 10

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Answer 11

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Answer 12

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Answer 13

Ch. 3 - Prob. 1P Ch. 3 - Prob. 2P Ch. 3 - Prob. 4P Ch. 3 - Prob. 5P Ch. 3 - Prob. 6P Ch. 3 - Prob. 7P Ch. 3 - Prob. 10P Ch. 3 - Prob. 11P Ch. 3 - Prob. 12P Ch. 3 - Prob. 13P

Solution Summary: The author explains the features that distinguishes a pedigree chart from others, such as the presence of defective alleles in the maternal genome, and the site of mutant DNA responsible for this phenotype.

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