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 Genetics is a practical guide to the applications of molecular biology and genetics techniques to human cells. A wide range of experimental procedures for investigating human genes and genomes are presented.* * Mutation Detection in Human Genes - chemical mismatch cleavage, DNA mini-sequencing, SSCP method, RT-PCR, electrophoretic mobility shift assay (EMSA), protein truncation test, chromosome deletion analysis.* Gene Mapping, Cloning, Sequencing - gene linkage determination, large-capacity cloning system, cDNA isolation, differential display method, primer-based DNA sequencing.* Transcription: Promoters, Transcription Factors, mRNA, - promotor mutation analysis, transcription factor identification, mRNA-protein interaction characterization.* RNA Editing, Ribozymes, Antisense RNA-mammalian RNA editing assays, ribozymes as genetic tools, antisense RNA technology.* Genome Recombination, Amplification - recombination assays for mammalian cells, gene amplification measurement.* Receptors, Signal Transduction - intra-cellular receptor characterization, analysis of signal transduction genes.* The Mouse as a Model System for Human Molecular Genetics - mouse genome methods (mouse crosses, somatic cell hybrids, YACs), mouse model for cardiovascular disease.

An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text. The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text's exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text's same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting, and human population genetics * Expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.

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 is intended to be a working guide to the operation of capillary electrophoresis (CE) instrumentation. Since CE is still a rap idly maturing technique, detailed validated protocols are not widely established. Therefore, extensive experimental procedures are not pro vided for individual analyses. The intention is to provide general guide lines on the principles and practice of CE and to give an overview of the specific technologies and important application areas. Part I provides operating instructions for standard commercially available instruments. Guidelines are included for activities such as changing capillaries, method development, quantitative procedures, optimization of precision and sensitivity, and the validation of meth ods, fraction collection, and troubleshooting, as well as a quick guide to running a separation. The application range of CE is possibly the most diverse of all analytical techniques and ranges from large, complex macromolecules, such as proteins and nucleic acids, to small solutes, such as organic drugs and inorganic anions and cations.

Lorette Javois' timely new 2nd edition revises and updates her widely acclaimed collection of step-by-step immunocytochemical methods, one that is now used in many biological and biomedical research programs. The methods are designed for researchers and clinicians who wish to visualize molecules in plant or animal embryos, tissue sections, cells, or organelles. In addition to cutting-edge protocols for purifying and preparing antibodies, light microscopic analysis, confocal microscopy, FACS, and electron microscopy, this revised edition contains many new methods for applying immunocytochemical techniques in the clinical laboratory and in combination with in situ hybridization.

DNA sequencing has become increasingly efficient over the years, resulting in an enormous increase in the amount of data gener ated. In recent years, the focus of sequencing has shifted, from being the endpoint of a project, to being a starting point. This is especially true for such major initiatives as the human genome project, where vast tracts of DNA of unknown function are sequenced. This sheer volume of available data makes advanced computer methods essen tial to analysis, and a familiarity with computers and sequence analy sis software a vital requirement for the researcher involved with DNA sequencing. Even for nonsequencers, a familiarity with sequence analysis software can be important. For instance, gene sequences already present in the databases can be extremely useful in the design of cloning and genetic manipulation experiments. This two-part work on Computer Analysis of Sequence Data is designed to be a practical aid to the researcher who uses computers for the acquisition, storage, or analysis of nucleic acid (and/or pro tein) sequences. Each chapter is written such that a competent scien tist with basic computer literacy can carry out the procedure successfully at the first attempt by simply following the detailed prac tical instructions that have been described by the author. A Notes section, which is included at the end of each chapter, provides advice on overcoming the common problems and pitfalls sometimes encoun tered by users of the sequence analysis software.

Molecular Genetics is one of the fast moving fields of science that has undergone a variable revolution over the last two decades leading to major advances in the understanding of gene structure and function at molecular level. Human Molecular Genetics is the study of the molecular basis of human genetic disease, developmental genetics, neurogenetics, chromosome structure and function, molecular aspects of cancer genetics, gene therapy, biochemical genetics, major advances in gene mapping and understanding of genome organization. Genetics is the study of how genes bring about characteristics, or traits, in living things and how those characteristics are inherited. Genes are portions of DNA molecules that determine characteristics of living things. Through the processes of meiosis and reproduction, genes are transmitted from one generation to the next. Heredity is a biological process where a parent passes certain genes onto their children or offspring. Genetics uses information from one or two genes to explain a disease or condition, whereas genomics examines all of the genetic information to determine biological markers predisposing an individual to disease. Genes are the best understood subsequence of DNA code. Most genes clearly encode the data sequence representing a particular protein. However, all of the genes together are only a small part of DNA code. The 30,000 odd genes in human DNA might only make up 4% of human DNA. This book presents a view in depth of the principal aspects of life science. Each chapter treats a discrete topic within the scope of biology and each is designed for students who are exposed to the topics for the first time. Since considerable ferment exists in the biological sciences today, it is increasingly important to keep pace with current developments.

Examines the impact of DNA technology on issues of ethics, civil liberties, privacy, and security.

Huntington's disease (HD) is one of the most common dominantly inherited neurodegenerative disorders, characterized by a clinical trial of movement disorder, cognitive deficits, and psychiatric symptoms. Huntington's Disease: Pathogenic Mechanisms and Implications for Therapeutics, reviews the most up-do-date content on HD pathogenic mechanisms and cutting-edge testing of therapeutic strategies for HD. Chapters explore areas such as, normal huntingtin biology in brain development and function, genetic modifiers of HD in patients, molecular pathogenic mechanism in HD, and mechanisms underlying selective neuronal vulnerability - Reviews the clinical course and genetics of HD - Reviews the biology of human huntingtin and HD-relevant cell types - Reviews the wide range of pathobiology associated with mutant huntingtin - Reviews genetic studies of HD and how these studies are informing the development of new therapeutic approaches - Reviews new tools and model systems for basic and translational research in HD, including new human-derived model systems, as well as systems biology and artificial intelligence–driven approaches - Provides an overview of new therapeutic approaches and current clinical programs in HD