Human Molecular Genetics

An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.

This book examines the toxicological and health implications of environmental epigenetics and provides knowledge through an interdisciplinary approach. Included in this volume are chapters outlining various environmental risk factors such as phthalates and dietary components, life states such as pregnancy and ageing, hormonal and metabolic considerations and specific disease risks such as cancer cardiovascular diseases and other non-communicable diseases. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses.

This is a concise overview of a complex and fast moving field. The text explains amongst many things the special problems encountered in human genome analysis. Boxed case studies are incorporated to help student comprehension of this topic.

Human Molecular Genetics 2 Tom Strachan & Andrew P. Read "truly a Rolls Royce amongst textbooks" — Molecular Medicine Today "the best text to introduce students and scientists to the molecular aspects of human genetics" — Trends in Genetics "a beautifully crafted book" — Journal of Medical Genetics "addresses the gap between introductory textbooks and the primary literature. There’s no other textbook quite like it." — Nature Now extensively rewritten and updated, HMG2 guides students and researchers through the very latest developments in the most rapidly changing area of life science. The highly regarded structure of the bestselling first edition is retained, but a wealth of new data and features have been added to aid understanding of the principles of human molecular genetics: new material on cell types and the cell cycle, signal transduction, DNA mutation repair, and comparative genomics and evolution new material on recent advances in the study of gene expression and function, including the use of DNA microarrays the latest Genome Project data including an assessment of the impact of complete genome sequences and new approaches in functional genomics expanded coverage of common disease susceptibility new section on how best to obtain the latest data from web-based resources a range of new figures, with many more in full color the early use of hierarchical figures and flow charts to introduce principles described fully in later chapters new two-column layout to improve clarity further references systematically updated HMG2 is the book of choice for readers requiring an authoritative and integrated approach to human genetics.

Extraordinary advances have been made in the field of human molecular genetics during the past five years. The ability to amplify a specific region ofDNA a millionfold in a few hours using the polymerase chain reaction has led to the rapid identification of mutations in human disease and of DNA sequence polymorphisms on every human chro- some. DNA fragments of up to 1 megabase in length can now be resolved by pulsed-field gel electrophoresis to create long-range physical maps of important regions of the genome, and can be cloned in the form of yeast artificial chromosomes. The discovery of highly variable "minisatellite" DNA sequences has led to the development of DNA fingerprinting. The application of these techniques to the study of the human genome has culminated in major advances such as the cloning of the cystic fibrosis gene, the construction of genetic linkage maps of each human chro- some, the mapping of many genes responsible for human inherited d- orders, genetic fingerprinting of forensic specimens, and the detection of mutations involved in the development of human tumors. Although many of the new techniques in molecular genetics can be learned relatively easily, it is often difficult for a researcher to obtain all of the relevant information necessary for getting up a technique and applying it successfully. The information available in the research lite- ture often lacks the depth of description that the new user requires.

Human Molecular Biology is an introduction to the language of health and disease for the new generation of life scientists and medical students. By integrating cutting-edge molecular genetics and biochemistry with the latest clinical information, the book weaves a pattern which unifies biology with syndromes, genetic pathways with developmental phenotypes, and protein function with drug action. From the origins of life to the present day, a narrative is traced through the workings of genomes, cells and organ systems, culminating in linking of laboratory technologies to future research horizons.