Explain Disease-Causing Mutations Are Hidden in a Sea of Variation

Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN:9781305251052
Author:Michael Cummings
Publisher:Michael Cummings
Chapter11: Genome Alterations: Mutation And Epigenetics
Section: Chapter Questions
Problem 1QP
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Explain Disease-Causing Mutations Are Hidden in a Sea of Variation

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Step 1 Introduction

Introns and exons are nucleotide sequences within a gene. Introns are removed by RNA splicing as RNA matures, meaning that they are not expressed in the final messenger RNA (mRNA) product, while exons go on to be covalently bonded to one another in order to create mature mRNA. The exome is the portion of the genome composed of exons. Exons are sequences within the mature mRNA after introns are eliminated by RNA splicing.

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