Molecular Polymorphism of Man


Book Description

Decoding of the human genome created a qualitatively new state in development of modern fields of science, technology and medicine. One of the basic results of this is formation of a basis for investigating genome of every individual with detection of differences at the gene and protein levels. The chemical-biological approach based on highly efficient physical methods provides an opportunity of detailed molecular genetic typing of the population, investigation of genetic polymorphism, individual features of enzymatic and molecular-receptor processes in every person. Achievements in human genomics and proteomics, chemical enzymology, bioinformatics and medical genetics form the basis of modern investigations and multiple practical uses. The accuracy and efficiency of modern analytical methods allows for assigning tasks of obtaining genetic and proteomic molecular portrait of every individual, detection of individual differences of personalities at the genetic and protein levels. In the nearest decade, post-genomic and proteomic investigations will lead to significant changes in many spheres of social life. At present, a new molecular medicine based on determination of the ultimate causes of many diseases is being established. Aptitudes and development of many diseases are genetically defined. Basing on post-genomic and proteomic studies, new branches, such as cardiogenomics, oncogenomics, neurogenomics, pharmacogenomics, based on objective appraisal and reduction of risks of cardiovascular diseases and cancer, forecast of neurodegenerative processes and ageing appear in medicine. Today it is referred to creation and development of individual medicine based on molecular-genetic and proteomic human portrait. Occupational guidance and study of personal dispositions in various spheres of action may be based on molecular-genetic analysis. Molecular genetic typing is the foundation for reasonable determination of potential professional abilities. The study of polymorphism of genes defining physical, psychological and intellectual human characteristics seems to be of crucial importance. In the modern post-genomic process, one of the main targets is creation of a unified platform for genetic analysis and the basis for genotyping of the population. Functional reserves of the human organism are significantly defined by the genotype of parents. At present in developed countries, and in the nearest future in Russia, a system for estimation of risks and abilities of children basing on genetic portrait of parents is being developed. It is expected that in full this system will start functioning in the nearest decade. Genetic forecasting of pathology risk and human abilities at the background of many social factors is the material basis for transition to genetically healthful population. Post-genomic projects suggest many special supplements; in particular, developed approaches provide full and unambiguous identification of an individual using superlow, trace quantities of biological materials. The molecular genetic approach becomes the foundation for many human sciences. Analysis of structural features of genomic DNA passed from generation to generation is fundamental for the modern approach to the study of origination and evolution of ethnoses. New fields of science, ethnogenomics and ethnogeography, appeared. Post-genomic development of the science touches upon many spheres of life of the modern society. Basing on molecular presentations created by modern physical, chemical and molecular biological methods and operating modern information technologies, which use an advanced mathematical apparatus, this field creates extremely socially meaningful products affecting development of the society in whole. This book is a review of modern scientific data and ideas of above-mentioned area.




Evaluating Human Genetic Diversity


Book Description

This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.




Genetic Polymorphism and Disease


Book Description

Genetic polymorphisms are important determinants of phenotypic variations and may modulate the risk to or even cause various diseases including genetic disorders and multifactorial diseases. Genetic polymorphisms also serve as important genetic, population and evolutionary markers that allow the study of genetic and evolutionary aspects of individuals, populations and organisms and aid in tracing the evolutionary and parental lineages. Genetic polymorphisms in low penetrance genes are responsible for the alterations in the gene expression of critical signal transduction proteins and metabolic enzymes. Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. This book collates the reviews on the roles played by polymorphisms in critical metabolic, signal transduction, cell cycle or DNA repair genes either directly or indirectly in the disease mechanisms. The focus is on various techniques for identifying the various Single Nucleotide Polymorphisms (SNPs). Polymorphism studies document the affect SNPs, and their expressions have upon the functionality of the enzymes, proteins. Key Features Describes the genetic polymorphism and its various types Discusses the role of genetic polymorphisms in modulating the risk of various human diseases Explores various molecular techniques used for detecting GPs Characterizes the role of SNPs in modulating the susceptibility of human diseases Provides a genetic basis for individual variations in response to therapeutics




Genetic Polymorphisms


Book Description

The objective of this Genetic Polymorphisms book is to rehighlight and provide few updates on the role of genetic polymorphisms in medicine and agriculture, which void emerging opinion on "full death" of genetic polymorphisms as useful genetic markers. Chapters presented here demonstrate the future benefit of SNPs in many genetic studies as well as prognosis disease and diagnosis.




In the Light of Evolution


Book Description

The Arthur M. Sackler Colloquia of the National Academy of Sciences address scientific topics of broad and current interest, cutting across the boundaries of traditional disciplines. Each year, four or five such colloquia are scheduled, typically two days in length and international in scope. Colloquia are organized by a member of the Academy, often with the assistance of an organizing committee, and feature presentations by leading scientists in the field and discussions with a hundred or more researchers with an interest in the topic. Colloquia presentations are recorded and posted on the National Academy of Sciences Sackler colloquia website and published on CD-ROM. These Colloquia are made possible by a generous gift from Mrs. Jill Sackler, in memory of her husband, Arthur M. Sackler.




Genetic Diversity and Disease Susceptibility


Book Description

Polymorphism or variation in DNA sequence can affect individual phenotypes such as color of skin or eyes, susceptibility to diseases, and response to drugs, vaccines, chemicals, and pathogens. Especially, the interfaces between genetics, disease susceptibility, and pharmacogenomics have recently been the subject of intense research activity. This book is a self-contained collection of valuable scholarly papers related to genetic diversity and disease susceptibility, pharmacogenomics, ongoing advances in technology, and analytic methods in this field. The book contains nine chapters that cover the three main topics of genetic polymorphism, genetic diversity, and disease susceptibility and pharmacogenomics. Hence, this book is particularly useful to academics, scientists, physicians, pharmacists, practicing researchers, and postgraduate students whose work relates to genetic polymorphisms.




Scientific Frontiers in Developmental Toxicology and Risk Assessment


Book Description

Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.




Genes, Behavior, and the Social Environment


Book Description

Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.