Point mutation

352 Pages·2012·20.596 MB·English

by  Colin Logie

POINT MUTATION

Edited by Colin Logie
Point Mutation
Edited by Colin Logie

Published by InTech
Janeza Trdine 9, 51000 Rijeka, Croatia

Copyright © 2012 InTech
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Technical Editor Teodora Smiljanic
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First published March, 2012
Printed in Croatia

A free online edition of this book is available at www.intechopen.com
Additional hard copies can be obtained from [email protected]

Point Mutation, Edited by Colin Logie
p. cm.
ISBN 978-953-51-0331-8

Contents

Preface IX
Part 1 Current Views on Point Mutation Theory 1
Chapter 1 Point Mutations, Their Transition Rates and
Involvements in Human and Animal Disorders 3
Viliam Šnábel
Chapter 2 Bioinformatical Analysis of Point
Mutations in Human Genome 15
Branko Borštnik and Danilo Pumpernik
Chapter 3 Estimating Human Point Mutation
Rates from Codon Substitution Rates 31
Kazuharu Misawa
Part 2 Point Mutation in Viruses:
From Drug Resistance to Vaccination 43
Chapter 4 Point Mutations and Antiviral Drug Resistance 45
José Arellano-Galindo, Blanca Lilia Barron,
Yetlanezi Vargas-Infante, Enrique Santos-Esteban,
Emma del Carmen Herrera-Martinez,
Norma Velazquez-Guadarrama
and Gustavo Reyes-Teran
Chapter 5 Point Mutations Associated with
HIV-1 Drug Resistance, Evasion of the
Immune Response and AIDS Pathogenesis 93
Makobetsa Khati and Laura Millroy
Chapter 6 Recombination and Point
Mutations in Type G Rotavirus Strains:
The Challenges of Vaccine Development 133
Abid Nabil Ben Salem, Rouis Zyed,
Buesa Javier and Aouni Mahjoub
VI Contents

Chapter 7 Molecular Attenuation Process in Live
Vaccine Generation for Arenaviruses 159
Sandra Elizabeth Goñi and Mario Enrique Lozano
Part 3 Point Mutation in Bacteria:
Human Activity-Driven Evolution 183
Chapter 8 Mutational Polymorphism in the
Bacterial Topoisomerase Genes
Driven by Treatment with Quinolones 185
Maja Velhner and Dragica Stojanović
Part 4 Point Mutation in Eukaryote:
From Pathogens to Cigarette Smoke 211
Chapter 9 Point Mutation in Surveillance
of Drug-Resistant Malaria 213
Sungano Mharakurwa
Chapter 10 Correlations with Point Mutations and
Severity of Hemolitic Anemias: The Example
of Hereditary Persistence of Fetal Hemoglobin
with Sickle Cell Anemia and Beta Thalassemia 227
Anderson Ferreira da Cunha, Iran Malavazi,
Karen Simone Romanello and Cintia do Couto Mascarenhas
Chapter 11 Point Mutations That Reduce
Erythrocyte Resistance to Oxidative Stress 255
Dmitriy Volosnikov and Elena Serebryakova
Chapter 12 Point Mutations in Ferroportin Disease:
Genotype/Phenotype Correlation 285
Riad Akoum
Chapter 13 p53: Point Mutations, SNPs and Cancer 301
Ming Fang, Iva Simeonova and Franck Toledo
Chapter 14 Transgenerational Effects of Maternal
Nicotine Exposure During Gestation
and Lactation on the Respiratory System 323
G. S. Maritz
Chapter 15 Synthetic Point Mutagenesis 335
Roman A.G. Schaeken, Joke J.F.A. van Vugt
and Colin Logie

Preface

Point mutation is a vast subject that could not be captured in a set of fifteen vignettes.
This book therefore reflects the interest of its authors, who are, for the most part,
medically oriented scientists from all over the world, from Latin America to Russia
and from Africa to Asia. A diverse array of research fields are broached, with an effort
to bring the reader up to date with the knowledge amassed since the year 2000. After
an introductory chapter on point mutation, current theory is expounded in two
chapters on human point mutation. This is followed by five chapters on point
mutation in viral genomes, going from adaptation of HIV to current therapies to
antiviral vaccination and point mutation. Next, current trends in our knowledge of
bacterial adaptation to quinolone antibiotics is described. This is followed by point
mutagenesis in eukaryotic genomes, going from drug resistance in malaria to the
nefarious effects of cigarette smoking. Finally, two contemporary synthetic point
mutagenesis methodologies are described.

Colin Logie
Nijmegen Centre of Molecular Life Sciences,
Nijmegen,
The Netherlands