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The simultaneous occurrence of two or more discontinuous alleles or genotypes in a population is termed as genetic polymorphism. Most genetic polymorphisms are silent and do not interfere with the expression or function of a gene. Polymorphisms are classified into single nucleotide polymorphisms, small scale insertions and deletions, polymorphic repetitive elements, and microsatellites. The single nucleoid changes which happen in the genome in a particular location are termed as single nucleoid polymorphisms (SNPs). They are associated with both coding and non-coding regions. In humans, more than 100 million SNPs have been recognised. This book covers in detail some existent theories and innovative concepts revolving around genetic polymorphisms. It includes some of the vital pieces of work being conducted across the world, on various topics related to genetic polymorphism. Those in search of information to further their knowledge will be greatly assisted by this book.
A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
This book focuses on the use of molecular tools to study small populations of rare and endangered mammals, and presents case studies that apply an evolutionary framework to address innovative questions in the emerging field of mammalian conservation genomics using a highly diverse set of novel molecular tools. Novel and more precise molecular technologies now allow experts in the field of mammology to interpret data in a more contextual and empirical fashion and to better describe the evolutionary and ecological processes that are responsible for the patterns they observe. The book also demonstrates how recent advances in genetic/genomic technologies have been applied to assess the impact of environmental/anthropogenic changes on the health of small populations of mammals. It examines a range of issues in the field of mammalian conservation genomics, such as the role that the genetic diversity of the immune system plays in disease protection and local adaptation; the use of noninvasive techniques and genomic banks as a resource for monitoring and restoring populations; the structuring of population by physical barriers; and genetic diversity. Further, by integrating research from a variety of areas – including population genetics, molecular ecology, systematics, and evolutionary and conservation biology – it enables readers to gain a deeper understanding of the conservation biology of mammals that are at increasing risk of extinction at local, regional and global scales. As such, it offers a unique resource for a broad readership interested in the conservation biology of mammals and conservation management strategies to better preserve biodiversity.
Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.
This paper presents improved methods for analysis of genome-wide association studies in contemporary genetic research. Thanks to current sequencing methods, half to one million single-nucleotide polymorphisms (SNPs) can be feasibly generated within any given population, and there are often correlations among SNPs that cause truly causative loci to be confounded by correlated neighboring loci. Additionally, complex traits are often jointly affected by multiple genetic variants with each having small or moderate individual effects. To address these issues in genome-wide association studies, we propose a novel statistical approach, DCRR, to detect significant associations between large numbers of SNPs and phenotypes. We applied DCRR on simulations of that varied in marker allele frequencies, linkage disequilibrium, and the numbers of SNPs considered; and we analyzed a previously published Arabidopsis thaliana dataset of an AvrRpm1 binary trait. Our distance correlation was effective in ranking SNPs while the logistic ridge regression detected causative SNPs without including spurious correlated neighbors. Our results indicate that DCRR is an effective and reliable method that can improve the accuracy and efficiency of large association datasets.
Juvenile Delinquency: An Integrated Approach, Second Edition offers a comprehensive introduction to juvenile delinquency. Now in a more concise and accessible format, this text cultivates an understanding of juvenile delinquency by examining and linking key sociological and criminological theories and research. Biological and psychological apporaches to delinquency are covered, as well as responses to deliquent behavior includuing prevention, early intervention, and contemporary juvenile justice.
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.
Genetic susceptibility refers to how variations in a person’s genes increase or decrease his or her susceptibility to environmental factors, such as chemicals, radiation and lifestyle (diet and smoking). This volume will explore the latest findings in the area of genetic susceptibility to gastrointestinal cancers, focusing on molecular epidemiology, DNA repair, and gene-environment interactions to identify factors that affect the incidence of GI cancers. Topics will include germline susceptibility, including Mendelian patterns of inheritance and gene-environment interactions that lead to cancer etiology.
Today's rapidly evolving consumer frequently changes eating habits, tastes, and diet. Therefore, to secure financial solvency, food and beverage companies must continually define, develop, and market new products. This comprehensive volume integrates all aspects of the physical food and beverage product development cycle and provides perspectives on how to optimize each component of the new product equation in the food industry. It discusses both the technical and the marketing sides, emphasizing the necessity for a combined focus of both the product/process and the people/market. The inclusion of case studies makes the book suitable for a classroom text or a professional reference.