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One unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. For example, mutations in the RET gene can cause two different types of multiple endocrine neoplasias, familial medullary thyroid carcinoma, and Hirschsprung disease. How do you think mutations in a single gene can have such diverse effects?

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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 15, Problem 12QP
Textbook Problem
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One unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. For example, mutations in the RET gene can cause two different types of multiple endocrine neoplasias, familial medullary thyroid carcinoma, and Hirschsprung disease. How do you think mutations in a single gene can have such diverse effects?

Summary Introduction

To determine: The process through which mutations in a single gene (such as RET gene) can cause different disorders.

Introduction: Mutations in a single gene can lead to different genetic disorders. For example, the mutation in the RET gene (codes for a cell-surface receptor protein that transfers signal across the cell membrane) can cause two types of cancers and Hirschsprung disease.

Explanation of Solution

Mutations in a single gene can cause different genetic disorders, depending on the type and location of mutations within the gene. In some cases, the mutation in a gene at one location may produce a protein that differs from normal function...

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