Mutations in Human Genetic Disease

David N. Cooper, Jian-Min Chen, David N. Cooper, Jian-Min Chen

• Publisher: IntechOpen
• Year: 2012
• Print ISBN: 9789535107903
• eBook ISBN: 9789535153290
• Topic: Medicine
• Subtopic: Genetics in Medicine

Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.

Table of contents

• Mutations in Human Genetic Disease
• Contents
• Preface
• Chapter 1 Missense Mutation in AR-CGD
• Chapter 2 Missense Mutations in GDF-5 Signaling: Molecular Mechanisms Behind Skeletal Malformation
• Chapter 3 Missense Mutation in the LDLR Gene: A Wide Spectrum in the Severity of Familial Hypercholesterolemia
• Chapter 4 Missense Mutation in Cancer in Correlation to Its Phenotype – VHL as a Model
• Chapter 5 Genotype-Phenotype Disturbances of Some Biomarkers in Colorectal Cancer
• Chapter 6 Genetic Causes of Syndromic and Non-Syndromic Congenital Heart Disease
• Chapter 7 The Prototype of Hereditary Periodic Fevers: Familial Mediterranean Fever
• Chapter 8 Pathophysiological Roles of Mutations in + - the Electrogenic Na -HCO3 Cotransporter NBCe1
• Chapter 9 The Mutations and Their Relationships with the Genome and Epigenome, RNAs Editing and Evolution in Eukaryotes
• Chapter 10 Screening of Gene Mutations in Lung Cancer for Qualification to Molecularly Targeted Therapies
• Chapter 11 Clinical and Genetic Heterogeneity of Autism
• Chapter 12 Bioinformatics Approaches to the Functional Profiling of Genetic Variants
• Chapter 13 Anderson’s Disease/Chylomicron Retention Disease and Mutations in the SAR1B Gene
• Chapter 14 Activating Mutations and Targeted Therapy in Cancer