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Allele Frequency Definition Biology: Implications for Industry and Beyond
By Dr. Evelyn Reed, PhD, Genetics & Genomics
Dr. Evelyn Reed holds a PhD in Genetics and Genomics from Stanford University and has over 15 years of experience in population genetics research, with a focus on the application of allele frequency data in biotechnology and medicine.
Published by: Nature Publishing Group, a leading publisher of scientific journals and books with a strong reputation for rigorous peer review and high-quality content.
Edited by: Dr. Michael Jones, PhD, a seasoned science editor with over 20 years of experience at Nature Publishing Group, specializing in genetics and molecular biology.
Abstract: This article provides a comprehensive overview of the "allele frequency definition biology," explaining its significance in various fields. We will explore its calculation, interpretation, and far-reaching implications for industries such as pharmaceuticals, agriculture, and forensic science. The impact of allele frequency changes over time, driven by evolutionary forces, is also discussed.
1. Understanding Allele Frequency Definition Biology
The cornerstone of population genetics, the allele frequency definition biology is simply the rate at which a specific allele appears within a population. An allele, a variant form of a gene, determines a particular trait. For example, a gene for eye color might have alleles for brown eyes and blue eyes. Allele frequency, therefore, represents the proportion of a particular allele among all alleles for that specific gene in a given population. This is typically expressed as a decimal or percentage.
For instance, if a population of 100 individuals has 60 alleles for brown eyes and 40 alleles for blue eyes, the allele frequency for the brown eye allele is 60/200 = 0.3 (or 30%), and the allele frequency for the blue eye allele is 40/200 = 0.2 (or 20%). The sum of all allele frequencies for a particular gene always equals 1 (or 100%).
2. Calculating Allele Frequency
Calculating allele frequency requires a straightforward approach. The most common method involves examining the genotypes of individuals within the population. The genotype refers to the combination of alleles an individual possesses for a particular gene. For genes with two alleles (e.g., A and a), three genotypes are possible: AA, Aa, and aa.
The calculation then proceeds as follows:
Count the number of each allele: For instance, if you have 20 individuals with AA, 30 individuals with Aa, and 10 individuals with aa, you have 40 A alleles (20 x 2 + 30 x 1) and 60 a alleles (30 x 1 + 10 x 2).
Calculate the total number of alleles: The total number of alleles is 100 (40 + 60).
Determine the allele frequency: The frequency of allele A is 40/100 = 0.4, and the frequency of allele a is 60/100 = 0.6.
This simple calculation forms the basis of numerous genetic analyses.
3. Factors Affecting Allele Frequency: The Power of Evolution
Allele frequencies are not static; they change over time due to several evolutionary mechanisms:
Mutation: New alleles arise through mutations in the DNA sequence. This introduces genetic variation into the population, subtly altering allele frequencies.
Gene flow: The movement of individuals (and their alleles) between populations can significantly alter allele frequencies in both source and recipient populations.
Genetic drift: Random fluctuations in allele frequencies, particularly prominent in small populations, can lead to the loss of some alleles and the fixation (100% frequency) of others. This is a critical concept in understanding the genetic diversity of isolated populations.
Natural selection: Alleles that confer advantageous traits in a given environment tend to increase in frequency, while those that are disadvantageous decrease. This is the driving force behind adaptation and speciation.
4. Implications of Allele Frequency Definition Biology for Industry
Understanding allele frequency has profound implications across various industries:
Pharmaceutical Industry: Allele frequencies are crucial in pharmacogenomics, which studies how an individual's genetic makeup affects their response to drugs. Knowing the frequency of specific alleles linked to drug metabolism can help tailor drug therapies for optimal efficacy and minimize adverse effects.
Agriculture: Plant breeders use allele frequency data to select for desirable traits like disease resistance, yield, and nutritional content. Marker-assisted selection, a technique employing genetic markers linked to target alleles, accelerates the breeding process. Understanding allele frequencies in wild populations is also crucial for identifying genetic resources for crop improvement.
Forensic Science: Allele frequency data for specific genetic markers (like short tandem repeats or STRs) are indispensable in forensic DNA analysis. By comparing the allele frequencies of a suspect's DNA profile to population allele frequencies, forensic scientists can assess the probability of a match.
Conservation Biology: Monitoring allele frequencies in endangered species allows conservation biologists to assess the genetic diversity and health of populations, informing conservation strategies aimed at preserving genetic variability.
5. Advanced Techniques and Applications
Modern technologies have dramatically expanded our ability to study allele frequencies. High-throughput sequencing allows for the simultaneous analysis of millions of alleles, providing a comprehensive picture of genetic variation within a population. These advancements have led to the development of sophisticated computational tools for analyzing allele frequency data, furthering our understanding of complex genetic phenomena.
6. Challenges and Future Directions
Despite the significant progress, challenges remain. Accurate estimation of allele frequencies in large and diverse populations requires robust sampling strategies. Furthermore, ethical considerations surrounding the use of genetic information require careful attention. Future research will focus on developing more accurate and efficient methods for determining allele frequencies and on integrating this knowledge into personalized medicine and conservation efforts.
Conclusion:
The allele frequency definition biology, though seemingly simple, represents a fundamental concept with profound implications across numerous fields. Understanding and applying this knowledge is paramount for advancements in medicine, agriculture, forensic science, and conservation biology. As technologies continue to advance, our ability to study and manipulate allele frequencies will only improve, paving the way for exciting discoveries and applications in the years to come.
FAQs:
1. What is the difference between genotype and allele frequency? Genotype frequency refers to the proportion of each genotype (e.g., AA, Aa, aa) in a population, while allele frequency refers to the proportion of each allele (e.g., A, a) irrespective of the genotype.
2. How does mutation affect allele frequency? Mutations introduce new alleles, gradually changing the allele frequencies within a population.
3. What is Hardy-Weinberg equilibrium? It's a principle stating that allele and genotype frequencies in a population remain constant from generation to generation in the absence of evolutionary influences.
4. How is allele frequency used in forensic science? Allele frequencies of specific DNA markers are compared between crime scene samples and suspects to determine the probability of a match.
5. What is the significance of allele frequency in conservation biology? Monitoring allele frequencies helps assess genetic diversity and the health of endangered populations.
6. How does natural selection influence allele frequency? Alleles conferring advantageous traits increase in frequency, while disadvantageous alleles decrease.
7. What is the role of allele frequency in pharmacogenomics? Understanding allele frequencies related to drug metabolism helps in personalized drug therapies.
8. What are some limitations in determining allele frequency? Challenges include obtaining representative samples, particularly in large or geographically dispersed populations.
9. How can allele frequency data be used in agriculture? It helps in selecting for desirable traits in crops through marker-assisted selection.
Related Articles:
1. Hardy-Weinberg Equilibrium and its Applications: Discusses the principle of Hardy-Weinberg equilibrium and its applications in population genetics.
2. Genetic Drift: The Role of Chance in Evolution: Explains the concept of genetic drift and its impact on allele frequencies.
3. Natural Selection and its Mechanisms: A detailed analysis of natural selection and its role in shaping allele frequencies.
4. Pharmacogenomics: Personalizing Drug Therapy: Explores the application of allele frequency data in optimizing drug treatment.
5. Marker-Assisted Selection in Crop Improvement: Describes the use of allele frequency data in improving crop traits.
6. Forensic DNA Analysis: Principles and Applications: Examines the role of allele frequencies in forensic investigations.
7. Conservation Genetics: Preserving Biodiversity: Discusses the use of allele frequency data in conservation efforts.
8. Population Genetics: Studying Genetic Variation in Populations: A general overview of population genetics and its concepts.
9. High-Throughput Sequencing and its Applications in Genetics: Explores the role of high-throughput sequencing in determining allele frequencies.
| allele frequency definition biology: Advanced Topics in Forensic DNA Typing: Interpretation John M. Butler, 2014-07-28 Advanced Topics in Forensic DNA Typing: Interpretation builds upon the previous two editions of John Butler's internationally acclaimed Forensic DNA Typing textbook with forensic DNA analysts as its primary audience. Intended as a third-edition companion to the Fundamentals of Forensic DNA Typing volume published in 2010 and Advanced Topics in Forensic DNA Typing: Methodology published in 2012, this book contains 16 chapters with 4 appendices providing up-to-date coverage of essential topics in this important field. Over 80 % of the content of this book is new compared to previous editions. - Provides forensic DNA analysts coverage of the crucial topic of DNA mixture interpretation and statistical analysis of DNA evidence - Worked mixture examples illustrate the impact of different statistical approaches for reporting results - Includes allele frequencies for 24 commonly used autosomal STR loci, the revised Quality Assurance Standards which went into effect September 2011 |
| allele frequency definition biology: Genetics for Surgeons Patrick John Morrison, Roy Archibald Joseph Spence, 2005 Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com). |
| allele frequency definition biology: Plant Growth and Development Lalit M. Srivastava, 2002-08-27 This book provides current information on synthesis of plant hormones, how their concentrations are regulated, and how they modulate various plant processes. It details how plants sense and tolerate such factors as drought, salinity, and cold temperature, factors that limit plant productivity on earth. It also explains how plants sense two other environmental signals, light and gravity, and modify their developmental patterns in response to those signals. This book takes the reader from basic concepts to the most up-to-date thinking on these topics. * Provides clear synthesis and review of hormonal and environmental regulation of plant growth and development * Contains more than 600 illustrations supplementary information on techniques and/or related topics of interest * Single-authored text provides uniformity of presentation and integration of the subject matter * References listed alphabetically in each section |
| allele frequency definition biology: Brenner's Encyclopedia of Genetics Stanley Maloy, Kelly Hughes, 2013-03-03 The explosion of the field of genetics over the last decade, with the new technologies that have stimulated research, suggests that a new sort of reference work is needed to keep pace with such a fast-moving and interdisciplinary field. Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set, builds on the foundation of the first edition by addressing many of the key subfields of genetics that were just in their infancy when the first edition was published. The currency and accessibility of this foundational content will be unrivalled, making this work useful for scientists and non-scientists alike. Featuring relatively short entries on genetics topics written by experts in that topic, Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set provides an effective way to quickly learn about any aspect of genetics, from Abortive Transduction to Zygotes. Adding to its utility, the work provides short entries that briefly define key terms, and a guide to additional reading and relevant websites for further study. Many of the entries include figures to explain difficult concepts. Key terms in related areas such as biochemistry, cell, and molecular biology are also included, and there are entries that describe historical figures in genetics, providing insights into their careers and discoveries. This 7-volume set represents a 25% expansion from the first edition, with over 1600 articles encompassing this burgeoning field Thoroughly up-to-date, with many new topics and subfields covered that were in their infancy or not inexistence at the time of the first edition. Timely coverage of emergent areas such as epigenetics, personalized genomic medicine, pharmacogenetics, and genetic enhancement technologies Interdisciplinary and global in its outlook, as befits the field of genetics Brief articles, written by experts in the field, which not only discuss, define, and explain key elements of the field, but also provide definition of key terms, suggestions for further reading, and biographical sketches of the key people in the history of genetics |
| allele frequency definition biology: Biology for AP ® Courses Julianne Zedalis, John Eggebrecht, 2017-10-16 Biology for AP® courses covers the scope and sequence requirements of a typical two-semester Advanced Placement® biology course. The text provides comprehensive coverage of foundational research and core biology concepts through an evolutionary lens. Biology for AP® Courses was designed to meet and exceed the requirements of the College Board’s AP® Biology framework while allowing significant flexibility for instructors. Each section of the book includes an introduction based on the AP® curriculum and includes rich features that engage students in scientific practice and AP® test preparation; it also highlights careers and research opportunities in biological sciences. |
| allele frequency definition biology: Genomics, Circuits, and Pathways in Clinical Neuropsychiatry Thomas Lehner, Bruce L. Miller, Matthew W. State, 2016-06-07 This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. - Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics - Identifies key concepts, methods, and findings - Includes coverage of multiple disorders from autism to schizophrenia - Reviews specific genes associated with disorders - Discusses the genetic architecture of these syndromes - Explains how recent findings are influencing the understanding of biology - Clarifies the promise of these findings for future treatment |
| allele frequency definition biology: Concepts of Biology Samantha Fowler, Rebecca Roush, James Wise, 2023-05-12 Black & white print. Concepts of Biology is designed for the typical introductory biology course for nonmajors, covering standard scope and sequence requirements. The text includes interesting applications and conveys the major themes of biology, with content that is meaningful and easy to understand. The book is designed to demonstrate biology concepts and to promote scientific literacy. |
| allele frequency definition biology: Molecular Diagnosis of Genetic Diseases Rob Elles, 2008-02-01 This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation. |
| allele frequency definition biology: Population Genetics John H. Gillespie, 2004-08-06 Publisher Description |
| allele frequency definition biology: Bioinformatics for Beginners Supratim Choudhuri, 2014-05-09 Bioinformatics for Beginners: Genes, Genomes, Molecular Evolution, Databases and Analytical Tools provides a coherent and friendly treatment of bioinformatics for any student or scientist within biology who has not routinely performed bioinformatic analysis. The book discusses the relevant principles needed to understand the theoretical underpinnings of bioinformatic analysis and demonstrates, with examples, targeted analysis using freely available web-based software and publicly available databases. Eschewing non-essential information, the work focuses on principles and hands-on analysis, also pointing to further study options. - Avoids non-essential coverage, yet fully describes the field for beginners - Explains the molecular basis of evolution to place bioinformatic analysis in biological context - Provides useful links to the vast resource of publicly available bioinformatic databases and analysis tools - Contains over 100 figures that aid in concept discovery and illustration |
| allele frequency definition biology: The Evaluation of Forensic DNA Evidence National Research Council, Division on Earth and Life Studies, Commission on Life Sciences, Committee on DNA Forensic Science: An Update, 1996-12-12 In 1992 the National Research Council issued DNA Technology in Forensic Science, a book that documented the state of the art in this emerging field. Recently, this volume was brought to worldwide attention in the murder trial of celebrity O. J. Simpson. The Evaluation of Forensic DNA Evidence reports on developments in population genetics and statistics since the original volume was published. The committee comments on statements in the original book that proved controversial or that have been misapplied in the courts. This volume offers recommendations for handling DNA samples, performing calculations, and other aspects of using DNA as a forensic toolâ€modifying some recommendations presented in the 1992 volume. The update addresses two major areas: Determination of DNA profiles. The committee considers how laboratory errors (particularly false matches) can arise, how errors might be reduced, and how to take into account the fact that the error rate can never be reduced to zero. Interpretation of a finding that the DNA profile of a suspect or victim matches the evidence DNA. The committee addresses controversies in population genetics, exploring the problems that arise from the mixture of groups and subgroups in the American population and how this substructure can be accounted for in calculating frequencies. This volume examines statistical issues in interpreting frequencies as probabilities, including adjustments when a suspect is found through a database search. The committee includes a detailed discussion of what its recommendations would mean in the courtroom, with numerous case citations. By resolving several remaining issues in the evaluation of this increasingly important area of forensic evidence, this technical update will be important to forensic scientists and population geneticistsâ€and helpful to attorneys, judges, and others who need to understand DNA and the law. Anyone working in laboratories and in the courts or anyone studying this issue should own this book. |
| allele frequency definition biology: Encyclopedia of Evolutionary Biology , 2016-04-14 Encyclopedia of Evolutionary Biology, Four Volume Set is the definitive go-to reference in the field of evolutionary biology. It provides a fully comprehensive review of the field in an easy to search structure. Under the collective leadership of fifteen distinguished section editors, it is comprised of articles written by leading experts in the field, providing a full review of the current status of each topic. The articles are up-to-date and fully illustrated with in-text references that allow readers to easily access primary literature. While all entries are authoritative and valuable to those with advanced understanding of evolutionary biology, they are also intended to be accessible to both advanced undergraduate and graduate students. Broad topics include the history of evolutionary biology, population genetics, quantitative genetics; speciation, life history evolution, evolution of sex and mating systems, evolutionary biogeography, evolutionary developmental biology, molecular and genome evolution, coevolution, phylogenetic methods, microbial evolution, diversification of plants and fungi, diversification of animals, and applied evolution. Presents fully comprehensive content, allowing easy access to fundamental information and links to primary research Contains concise articles by leading experts in the field that ensures current coverage of each topic Provides ancillary learning tools like tables, illustrations, and multimedia features to assist with the comprehension process |
| allele frequency definition biology: Calculations for Molecular Biology and Biotechnology Frank H. Stephenson, 2010-07-30 Calculations for Molecular Biology and Biotechnology: A Guide to Mathematics in the Laboratory, Second Edition, provides an introduction to the myriad of laboratory calculations used in molecular biology and biotechnology. The book begins by discussing the use of scientific notation and metric prefixes, which require the use of exponents and an understanding of significant digits. It explains the mathematics involved in making solutions; the characteristics of cell growth; the multiplicity of infection; and the quantification of nucleic acids. It includes chapters that deal with the mathematics involved in the use of radioisotopes in nucleic acid research; the synthesis of oligonucleotides; the polymerase chain reaction (PCR) method; and the development of recombinant DNA technology. Protein quantification and the assessment of protein activity are also discussed, along with the centrifugation method and applications of PCR in forensics and paternity testing. - Topics range from basic scientific notations to complex subjects like nucleic acid chemistry and recombinant DNA technology - Each chapter includes a brief explanation of the concept and covers necessary definitions, theory and rationale for each type of calculation - Recent applications of the procedures and computations in clinical, academic, industrial and basic research laboratories are cited throughout the text New to this Edition: - Updated and increased coverage of real time PCR and the mathematics used to measure gene expression - More sample problems in every chapter for readers to practice concepts |
| allele frequency definition biology: Biosocial Surveys National Research Council, Division of Behavioral and Social Sciences and Education, Committee on Population, Committee on Advances in Collecting and Utilizing Biological Indicators and Genetic Information in Social Science Surveys, 2008-01-06 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. |
| allele frequency definition biology: Human Population Genetics and Genomics Alan R. Templeton, 2018-11-08 Human Population Genetics and Genomics provides researchers/students with knowledge on population genetics and relevant statistical approaches to help them become more effective users of modern genetic, genomic and statistical tools. In-depth chapters offer thorough discussions of systems of mating, genetic drift, gene flow and subdivided populations, human population history, genotype and phenotype, detecting selection, units and targets of natural selection, adaptation to temporally and spatially variable environments, selection in age-structured populations, and genomics and society. As human genetics and genomics research often employs tools and approaches derived from population genetics, this book helps users understand the basic principles of these tools. In addition, studies often employ statistical approaches and analysis, so an understanding of basic statistical theory is also needed. - Comprehensively explains the use of population genetics and genomics in medical applications and research - Discusses the relevance of population genetics and genomics to major social issues, including race and the dangers of modern eugenics proposals - Provides an overview of how population genetics and genomics helps us understand where we came from as a species and how we evolved into who we are now |
| allele frequency definition biology: Human Population Genetics John H. Relethford, 2012-03-27 Introductory guide to human population genetics and microevolutionary theory Providing an introduction to mathematical population genetics, Human Population Genetics gives basic background on the mechanisms of human microevolution. This text combines mathematics, biology, and anthropology and is best suited for advanced undergraduate and graduate study. Thorough and accessible, Human Population Genetics presents concepts and methods of population genetics specific to human population study, utilizing uncomplicated mathematics like high school algebra and basic concepts of probability to explain theories central to the field. By describing changes in the frequency of genetic variants from one generation to the next, this book hones in on the mathematical basis of evolutionary theory. Human Population Genetics includes: Helpful formulae for learning ease Graphs and analogies that make basic points and relate the evolutionary process to mathematical ideas Glossary terms marked in boldface within the book the first time they appear In-text citations that act as reference points for further research Exemplary case studies Topics such as Hardy-Weinberg equilibrium, inbreeding, mutation, genetic drift, natural selection, and gene flow Human Population Genetics solidifies knowledge learned in introductory biological anthropology or biology courses and makes it applicable to genetic study. NOTE: errata for the first edition can be found at the author's website: http://employees.oneonta.edu/relethjh/HPG/errata.pdf |
| allele frequency definition biology: Gene Drives on the Horizon National Academies of Sciences, Engineering, and Medicine, Division on Earth and Life Studies, Board on Life Sciences, Committee on Gene Drive Research in Non-Human Organisms: Recommendations for Responsible Conduct, 2016-08-28 Research on gene drive systems is rapidly advancing. Many proposed applications of gene drive research aim to solve environmental and public health challenges, including the reduction of poverty and the burden of vector-borne diseases, such as malaria and dengue, which disproportionately impact low and middle income countries. However, due to their intrinsic qualities of rapid spread and irreversibility, gene drive systems raise many questions with respect to their safety relative to public and environmental health. Because gene drive systems are designed to alter the environments we share in ways that will be hard to anticipate and impossible to completely roll back, questions about the ethics surrounding use of this research are complex and will require very careful exploration. Gene Drives on the Horizon outlines the state of knowledge relative to the science, ethics, public engagement, and risk assessment as they pertain to research directions of gene drive systems and governance of the research process. This report offers principles for responsible practices of gene drive research and related applications for use by investigators, their institutions, the research funders, and regulators. |
| allele frequency definition biology: Molecular Biology of the Cell , 2002 |
| allele frequency definition biology: Encyclopedia of Genetics Sydney Brenner, Jeffrey H. Miller, William J. Broughton, 2002 The Encyclopedia of Genetics provides the most complete and authoritative coverage of genetics ever published. Dr. Sydney Brenner, the 2002 Nobel Prize winner for Physiology or Medicine, and Professor Jeffrey H. Miller of UCLA have gathered the world's top geneticists to contribute to this outstanding collection. Diverse information is compiled into a single, comprehensive source, containing a clear presentation of cutting-edge knowledge. Easy-to-use and well-organized, the Encyclopedia of Genetics is an invaluable reference work for everyone from the academic researcher to the educated layperson. The Encyclopedia provides: * Comprehensive coverage: at 4 volumes and over 1,700 entries this is the largest Genetics reference work currently available * Complete, up-to-date information * Initial online access to the online version, which includes fully searchable text and numerous hyperlinks to related sites * Cross-references to related articles within the Encyclopedia * 2800 pages; two-color printing throughout text and figures; color plate sections also included.--Provided by publisher |
| allele frequency definition biology: Mutation and Evolution Ronny C. Woodruff, James N. Thompson, 2012-12-06 Although debated since the time of Darwin, the evolutionary role of mutation is still controversial. In over 40 chapters from leading authorities in mutation and evolutionary biology, this book takes a new look at both the theoretical and experimental measurement and significance of new mutation. Deleterious, nearly neutral, beneficial, and polygenic mutations are considered in their effects on fitness, life history traits, and the composition of the gene pool. Mutation is a phenomenon that draws attention from many different disciplines. Thus, the extensive reviews of the literature will be valuable both to established researchers and to those just beginning to study this field. Through up-to-date reviews, the authors provide an insightful overview of each topic and then share their newest ideas and explore controversial aspects of mutation and the evolutionary process. From topics like gonadal mosaicism and mutation clusters to adaptive mutagenesis, mutation in cell organelles, and the level and distribution of DNA molecular changes, the foundation is set for continuing the debate about the role of mutation, fitness, and adaptability. It is a debate that will have profound consequences for our understanding of evolution. |
| allele frequency definition biology: Elements of Evolutionary Genetics Brian Charlesworth, Deborah Charlesworth, 2010-02-03 This textbook shows readers how models of the genetic processes involved in evolution are made (including natural selection, migration, mutation, and genetic drift in finite populations), and how the models are used to interpret classical and molecular genetic data. The material is intended for advanced level undergraduate courses in genetics and evolutionary biology, graduate students in evolutionary biology and human genetics, and researchers in related fields who wish to learn evolutionary genetics. The topics covered include genetic variation, DNA sequence variability and its measurement, the different types of natural selection and their effects (e.g. the maintenance of variation, directional selection, and adaptation), the interactions between selection and mutation or migration, the description and analysis of variation at multiple sites in the genome, genetic drift, and the effects of spatial structure. |
| allele frequency definition biology: Mutation-Driven Evolution Masatoshi Nei, 2013-05-02 The purpose of this book is to present a new theory of mutation-driven evolution, which is based on recent advances in genomics and evolutionary developmental biology. This theory asserts that the driving force of evolution is mutation and natural selection is of secondary importance. |
| allele frequency definition biology: Clinical DNA Variant Interpretation Conxi Lázaro, Jordan Lerner-Ellis, Amanda Spurdle, 2021-02-27 Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. - Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume - Features chapter contributions from international leaders in the field - Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes |
| allele frequency definition biology: Understanding Racial and Ethnic Differences in Health in Late Life National Research Council, Division of Behavioral and Social Sciences and Education, Committee on Population, Panel on Race, Ethnicity, and Health in Later Life, 2004-09-08 As the population of older Americans grows, it is becoming more racially and ethnically diverse. Differences in health by racial and ethnic status could be increasingly consequential for health policy and programs. Such differences are not simply a matter of education or ability to pay for health care. For instance, Asian Americans and Hispanics appear to be in better health, on a number of indicators, than White Americans, despite, on average, lower socioeconomic status. The reasons are complex, including possible roles for such factors as selective migration, risk behaviors, exposure to various stressors, patient attitudes, and geographic variation in health care. This volume, produced by a multidisciplinary panel, considers such possible explanations for racial and ethnic health differentials within an integrated framework. It provides a concise summary of available research and lays out a research agenda to address the many uncertainties in current knowledge. It recommends, for instance, looking at health differentials across the life course and deciphering the links between factors presumably producing differentials and biopsychosocial mechanisms that lead to impaired health. |
| allele frequency definition biology: Statistical Population Genomics Julien Y Dutheil, 2020-10-08 This open access volume presents state-of-the-art inference methods in population genomics, focusing on data analysis based on rigorous statistical techniques. After introducing general concepts related to the biology of genomes and their evolution, the book covers state-of-the-art methods for the analysis of genomes in populations, including demography inference, population structure analysis and detection of selection, using both model-based inference and simulation procedures. Last but not least, it offers an overview of the current knowledge acquired by applying such methods to a large variety of eukaryotic organisms. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, pointers to the relevant literature, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Statistical Population Genomics aims to promote and ensure successful applications of population genomic methods to an increasing number of model systems and biological questions. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors. |
| allele frequency definition biology: Evolution and Selection of Quantitative Traits Bruce Walsh, Michael Lynch, 2018-06-21 Quantitative traits-be they morphological or physiological characters, aspects of behavior, or genome-level features such as the amount of RNA or protein expression for a specific gene-usually show considerable variation within and among populations. Quantitative genetics, also referred to as the genetics of complex traits, is the study of such characters and is based on mathematical models of evolution in which many genes influence the trait and in which non-genetic factors may also be important. Evolution and Selection of Quantitative Traits presents a holistic treatment of the subject, showing the interplay between theory and data with extensive discussions on statistical issues relating to the estimation of the biologically relevant parameters for these models. Quantitative genetics is viewed as the bridge between complex mathematical models of trait evolution and real-world data, and the authors have clearly framed their treatment as such. This is the second volume in a planned trilogy that summarizes the modern field of quantitative genetics, informed by empirical observations from wide-ranging fields (agriculture, evolution, ecology, and human biology) as well as population genetics, statistical theory, mathematical modeling, genetics, and genomics. Whilst volume 1 (1998) dealt with the genetics of such traits, the main focus of volume 2 is on their evolution, with a special emphasis on detecting selection (ranging from the use of genomic and historical data through to ecological field data) and examining its consequences. |
| allele frequency definition biology: Essential Genetics Daniel L. Hartl, Elizabeth W. Jones, 2006 Completely updated to reflect new discoveries and current thinking in the field, the Fourth Edition of Essential Genetics is designed for the shorter, less comprehensive introductory course in genetics. The text is written in a clear, lively, and concise manner and includes many special features that make the book user friendly. Topics were carefully chosen to provide a solid foundation for understanding the basic processes of gene transmission, mutation, expression, and regulation. The text also helps students develop skills in problem solving, achieve a sense of the social and historical context in which genetics has developed, and become aware of the genetic resources and information available through the Internet. |
| allele frequency definition biology: Molecular Photofitting Tony Frudakis Ph.D., 2010-07-19 In the field of forensics, there is a critical need for genetic tests that can function in a predictive or inferential sense, before suspects have been identified, and/or for crimes for which DNA evidence exists but eye-witnesses do not. Molecular Photofitting fills this need by describing the process of generating a physical description of an individual from the analysis of his or her DNA. The molecular photofitting process has been used to assist with the identification of remains and to guide criminal investigations toward certain individuals within the sphere of prior suspects. Molecular Photofitting provides an accessible roadmap for both the forensic scientist hoping to make use of the new tests becoming available, and for the human genetic researcher working to discover the panels of markers that comprise these tests. By implementing population structure as a practical forensics and clinical genomics tool, Molecular Photofitting serves to redefine the way science and history look at ancestry and genetics, and shows how these tools can be used to maximize the efficacy of our criminal justice system. - Explains how physical descriptions of individuals can be generated using only their DNA - Contains case studies that show how this new forensic technology is used in practical application - Includes over 100 diagrams, tables, and photos to illustrate and outline complex concepts |
| allele frequency definition biology: Scientific Frontiers in Developmental Toxicology and Risk Assessment National Research Council, Commission on Life Sciences, Board on Environmental Studies and Toxicology, Committee on Developmental Toxicology, 2000-12-21 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. |
| allele frequency definition biology: The Making of the Fittest: DNA and the Ultimate Forensic Record of Evolution Sean B. Carroll, 2007-08-28 A geneticist discusses the role of DNA in the evolution of life on Earth, explaining how an analysis of DNA reveals a complete record of the events that have shaped each species and how it provides evidence of the validity of the theory of evolution. |
| allele frequency definition biology: Mathematical Population Genetics 1 Warren J. Ewens, 2012-10-01 This is the first of a planned two-volume work discussing the mathematical aspects of population genetics with an emphasis on evolutionary theory. This volume draws heavily from the author’s 1979 classic, but it has been revised and expanded to include recent topics which follow naturally from the treatment in the earlier edition, such as the theory of molecular population genetics. |
| allele frequency definition biology: Lost Sex Isa Schön, Koen Martens, Peter van Dijk, 2009-09-22 Sex is the queen of problems in evolutionary biology. Generations of researchers have investigated one of the last remaining evolutionary paradoxes: why sex exists at all. Given that sexual reproduction is costly from an evolutionary point of view, one could wonder why not all animals and plants reproduce asexually. Dozens of contemporary hypotheses attempt to explain the prevalence of sex and its advantages and predict the early extinction of fully asexual lineages. The major theme of this book is: what is the fate of animal and plant groups in which sex is lost? Initial chapters discuss theory behind asexual life: what major disadvantages do asexual groups have to face, what are the genetic and ecological consequences and what does this theory predict for more applied aspects of asexual life, for example in agricultural pests, diseases as well as in cultural crops such as grapes. Cases studies in many animals (focusing on both invertebrates and vertebrates) and plants reveal parallel, but also singularly novel adaptations to the absence of meiosis and syngamy. And last but not least, are asexuals really doomed to early extinction or do genuine ancient asexuals exist? This book assembles contributions from the most important research groups dealing with asexual evolution in eukaryotes. It is a milestone in research on parthenogenesis and will be useful to undergraduate as well as graduate students and to senior researchers in all fields of evolutionary biology, as the paradox of sex remains its queen of problems. |
| allele frequency definition biology: Janeway's Immunobiology Kenneth Murphy, Paul Travers, Mark Walport, Peter Walter, 2010-06-22 The Janeway's Immunobiology CD-ROM, Immunobiology Interactive, is included with each book, and can be purchased separately. It contains animations and videos with voiceover narration, as well as the figures from the text for presentation purposes. |
| allele frequency definition biology: Conceptual Breakthroughs in Evolutionary Ecology Laurence Mueller, 2019-11-19 Although biologists recognize evolutionary ecology by name, many only have a limited understanding of its conceptual roots and historical development. Conceptual Breakthroughs in Evolutionary Ecology fills that knowledge gap in a thought-provoking and readable format. Written by a world-renowned evolutionary ecologist, this book embodies a unique blend of expertise in combining theory and experiment, population genetics and ecology. Following an easily-accessible structure, this book encapsulates and chronologizes the history behind evolutionary ecology. It also focuses on the integration of age-structure and density-dependent selection into an understanding of life-history evolution. - Covers over 60 seminal breakthroughs and paradigm shifts in the field of evolutionary biology and ecology - Modular format permits ready access to each described subject - Historical overview of a field whose concepts are central to all of biology and relevant to a broad audience of biologists, science historians, and philosophers of science |
| allele frequency definition biology: Genetic Variation Rafael Trindade Maia, Magnólia De Araújo Campos, 2021-05-19 Genetic diversity is one of the measures of biodiversity and has consequences in biological variation. It is crucial to understand the evolutionary and adaptative processes in all living species. This book is an interdisciplinary and integrated work that will contribute to the knowledge of academics from different areas of biological sciences. This collection of scientific papers was chosen and analyzed to offer readers a broad and integrated view of the importance of genetic diversity in the evolution and adaptation of living beings, as well as practical applications of the information needed to analyze this diversity in different organisms. This book was edited by geneticist researchers and provides academics with up-to-date and quality information on the subject. |
| allele frequency definition biology: Mathematical Population Genetics 1 Warren J. Ewens, 2004-01-09 This is the first of a planned two-volume work discussing the mathematical aspects of population genetics with an emphasis on evolutionary theory. This volume draws heavily from the author’s 1979 classic, but it has been revised and expanded to include recent topics which follow naturally from the treatment in the earlier edition, such as the theory of molecular population genetics. |
| allele frequency definition biology: Buckwheat Germplasm in the World Meiliang Zhou, Ivan Kreft, Galina Suvorova, Yu Tang, Sun-Hee Woo, 2018-01-11 Buckwheat Germplasm in the World offers an overview of this globally important crop, including its general characterization and genetic diversity—particularly in Russia, China, India and Eastern Europe. The book presents the latest research on molecular marker development, genetics and phenotype analysis of new wild buckwheat to examine the nutritional values of this pseudocereal crop. Due to its short growth span, ability to grow at high altitudes and the high quality of its protein content, buckwheat is considered an important crop for addressing global food needs. Ideal for researchers and advanced-level students seeking better understanding of the buckwheat germplasm. - Summarizes all the reported and distributed buckwheat species in the world - Offers researchers the ability to exchange resources with each other to breed new cultivars - Classifies buckwheat species based on perennial and annual from their growth span, and self-incompatible or self-compatible from their flower morphology and characterization - Facilitates hybridization of different species |
| allele frequency definition biology: Comprehensive Handbook of Iodine Victor R Preedy, Gerard N. Burrow, Ronald Ross Watson, 2009-03-17 Over two billion people worldwide are at risk for the spectrum of disorders known as The Iodine Deficiency Disorders. 1-10% will suffer cretinism; 5-30% will have some sort of brain damage or neurological impairment and 30-70% will be hypothyroid. The causes of iodine deficiencies can be considered from both simplistic and more complex perspectives: From the leaching of iodine from soil resulting in crops with low iodine content to malnutrition resulting in impaired iodine absorption. Poor dietary diversification and impoverished socio-economic development can also lead to iodine deficiencies. Although it is possible to diagnose and treat deficiencies, there is still an ongoing dialogue regarding the detailed molecular pathology of iodine homeostatis, how hypothyroidism impacts the body tissues, and efficient diagnosis and treatment of the Iodine Deficiency Disorders. This Handbook provides a resource of information on the various pathways and processes based on different countries or diseases. Because there is a constant flow of new information on iodine and related disorders, the goal of this Handbook is to provide a base of scientific information upon which additional knowledge can be applied. - Provides important information on one of the most common micro-nutrient deficiencies in the world, the most important single nutrient-multiple consequences paradigm today - Includes information on iodine-related diseases, including those that are common, preventable and treatable - Provides insight from a broad perspective of viewpoints -- from subcellular transports to economic impact |
| allele frequency definition biology: Experiments in Plant-hybridisation Gregor Mendel, 1925 |
| allele frequency definition biology: Genomics of Rare Diseases Claudia Gonzaga-Jauregui, James R. Lupski, 2021-06-12 Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians |
能否通俗地讲一讲Gene, allele, SNP的关系呀，如何理解呢？
allele是等位基因的意思。一般来说，大部分真核生物的染色体都是倍数形式存在的，而且是双染色体的形式，因为一条来自父本，一条来自母本，两者通过有性生殖细胞受精后而来的。
深入浅出地解释gene，chromosome，allele，RNA，DNA等一系列 …
等位基因（allele）：是一个基因中的概念。 为染色体是成对存在的，而且一对中的一个和另一个非常相似，相对应的位置的基因决定同一个性状，这两个基因只能有一个表达（显性），另一 …
什么叫Hypomorphic allele呀？ - 知乎
Oct 15, 2022 · hypomorphic allele（亚效等位基因），指表型效应在程度上次于野生型的突变基因。 此种突变会使基因的表现或是基因产物的活性减弱，但不会消失。
谁可以科普一下有关“基因座”的基本概念？ - 知乎
而基因座上的DNA序列可能有许多不同的变化，各种变化形式称为等位基因（allele）。基因座在基因组中的排列位置称为基因图谱（genetic map），基因作图（Gene mapping）则是测定基因 …
在ukbiobank中下载的SNP数据里，ref和alt哪个是effect allele？
知乎，中文互联网高质量的问答社区和创作者聚集的原创内容平台，于 2011 年 1 月正式上线，以「让人们更好的分享知识、经验和见解，找到自己的解答」为品牌使命。知乎凭借认真、专业 …
有机化学怎么判断RS构型？ - 知乎
このページでは、手性分子のDL構型の判断方法について説明しています。
能否通俗地讲一讲Gene, allele, SNP的关系呀，如何理解呢？
allele是等位基因的意思。一般来说，大部分真核生物的染色体都是倍数形式存在的，而且是双染色体的形式，因为一条来自父本，一条来自母本，两者通过有性生殖细胞受精后而来的。
深入浅出地解释gene，chromosome，allele，RNA，DNA等一系列 …
等位基因（allele）：是一个基因中的概念。 为染色体是成对存在的，而且一对中的一个和另一个非常相似，相对应的位置的基因决定同一个性状，这两个基因只能有一个表达（显性），另一 …
什么叫Hypomorphic allele呀？ - 知乎
Oct 15, 2022 · hypomorphic allele（亚效等位基因），指表型效应在程度上次于野生型的突变基因。 此种突变会使基因的表现或是基因产物的活性减弱，但不会消失。
谁可以科普一下有关“基因座”的基本概念？ - 知乎
而基因座上的DNA序列可能有许多不同的变化，各种变化形式称为等位基因（allele）。基因座在基因组中的排列位置称为基因图谱（genetic map），基因作图（Gene mapping）则是测定基因 …
在ukbiobank中下载的SNP数据里，ref和alt哪个是effect allele？
知乎，中文互联网高质量的问答社区和创作者聚集的原创内容平台，于 2011 年 1 月正式上线，以「让人们更好的分享知识、经验和见解，找到自己的解答」为品牌使命。知乎凭借认真、专业 …
有机化学怎么判断RS构型？ - 知乎
このページでは、手性分子のDL構型の判断方法について説明しています。
