Genomes: A Theory of the Origins of Species by Lynn Margulis, Dorion
Sagan, Ernst Mayr (Basic Books) From one of the great
iconoclasts of modern biology, an original, accessible work that sets out, for
lay and scientific readers alike, a new theory of how species begin.
In this groundbreaking book, Lynn Margulis and Dorion Sagan present an answer
to one of the enduring mysteries of evolution--the source of inherited variation
that gives rise to new species. Random genetic mutation, long believed to be the
main source of variation, is only a marginal factor. As the authors demonstrate
in this book, the more important source of speciation, by far, is the
acquisition of new genomes by symbiotic merger.
The result of thirty years of delving into a vast, mostly arcane literature, this is the first book to go beyond--and reveal the severe limitations of--the "Modern Synthesis" that has dominated evolutionary biology for almost three generations. Lynn Margulis, whom E. O. Wilson called "one of the most successful synthetic thinkers in modern biology," and her co-author Dorion Sagan have written a comprehensive and scientifically supported presentation of a theory that directly challenges the assumptions we hold about the variety of the living world.
Welcome to the Genome: A User's Guide to the Genetic Past, Present, and Future by Rob DeSalle, Michael Yudell (Wiley) This book is a "user's guide" to the genome, thrilling the reader about the wonders of this unraveling mystery while simultaneously providing real insights into the science and provoking important questions about the future of our society in the genomics era. While drawing from the widely acclaimed Genomic Revolution exhibit held at the American Museum of Natural History, it delves deeper into the themes addressed there, particularly stressing the impact on medicine as well as conservation biology and agriculture. Written in an engaging manner and filled with fascinating color images, this vivid, provocative guide is the most reader friendly introduction to this topic and should be required reading for anyone wishing to delve into the genome and its revolutionary effects on our future.
DNA: Forensic and Legal Applications by Lawrence Kobilinsky, Thomas F.
Liotti, Jamel Oeser-Sweat (Wiley-Interscience) DNA: Forensic and Legal
Applications covers the technology and laws related to DNA, as well as the use
of DNA evidence in the legal system. This
combination of science and law makes it the first comprehensive title of its
kind and an appropriate reference for those with both elementary and advanced
knowledge of the topic. It draws together in one source information that would
previously have required extensive research and reliance on experts to obtain,
offering both breadth and depth in a clear style without s acrificing scholarly
With material from both scientific and legal areas, DNA: Forensic and Legal Applications covers the latest advances in technology. It provides an ideal text for forensic scientists and students of forensic science, analytical chemists, lawyers, judges, police officers, and detectives.
The recently developed techniques that permit human identification by analysis of specific regions of DNA within the human genome have emerged as powerful evidentiary tools for the criminal justice system. The realization that a person can be "individualized" by analyzing his or her DNA has been heralded as one of the great-est revelations of the twentieth century. The number of clinical, scientific, and forensic uses for DNA grows with each passing day. As scientists strive to elucidate the many mysteries locked in the code that comprises DNA, we begin to understand why nature has made it the medium for storage of its blueprint for life, the genetic code. In DNA lies not merely the story of our evolution but also who we are, what lies in store for us in the future, and perhaps even the reason for our very existence.
Forensic DNA analysis has had a major impact on our criminal justice system and on the law during the last decade of the twentieth century. It has been employed in criminal law to help prove guilt or innocence, in family law to prove paternity, and in immigration law to prove blood relationships to establish citizenship. Its usefulness as a human identification tool is clear. Accordingly, in recent years, our legal system has given forensic DNA analysis the credibility that nature has given it as the blueprint of life. However, the examination of DNA can become compromised when environmental factors intervene, leading to deterioration, destruction, or contamination of the evidence, or when human error results in incorrect conclusions. These factors are crucial in determining what weight to give DNA evidence. Deter-mining whether these factors exist and, if so, the extent to which they have corrupted the evidence or compromised the analysis are important tasks for a lawyer. A lawyer must not only understand what is advantageous about the science of DNA but what can go wrong and how to detect and prevent procedural errors. Attorneys facing trials in which DNA evidence will be offered must understand the underlying
science and technology on which DNA testing is based. This book guides attorneys and judges through the complexities of the biochemical sciences to help them under-stand the methodology of DNA analysis. It will provide them with this knowledge so that, at trial, they can ask appropriate questions and understand the responses that are given. This book has been written for students of science and law, for criminal justice practitioners, and for those forensic scientists who do not currently work in the field of DNA identification but who seek to learn more about the scientific and legal procedures involved. It is assumed that the reader knows very little about DNA and written in a style that is easy to read and comprehend.
The first chapter will provide the reader with the background necessary to under-stand the science underlying the common tests employing DNA. While much can be written regarding the chemistry, uses, and functions of DNA, this discussion is limited to an overview of its chemistry, structure, and its ability to replicate, which pro-vides the information necessary to explore more advanced topics including the molecular biology and forensic applications of DNA in later portions of the book.
The second chapter provides the reader with information on the techniques employed by criminalists on the path from crime scene to final result; evidence is recognized at a crime scene and samples are collected, documented, packaged and brought to the laboratory, and analysis begins. It explores several issues that are relevant to each of the above procedures, as well as the impact of environmental factors, contamination, aging, and so forth on DNA evidence and test results. It also reviews methods of chemical and/or physical identification of common items of biological evidence.
The third chapter familiarizes the reader with procedures used to analyze biological evidence to determine its origin and if an association can be made between a suspect, victim, and/or crime scene. The different kinds of human DNA identification tests are reviewed, beginning with DNA fingerprinting, which was developed in the mid-1980s and used effectively into the mid-1990s. The chapter continues with a discussion of tests based on reverse dot blot technology, amplified fragment-length polymorphism (AmpFLP) analysis, and finally, the two current state-of-the-art techniques, known as PCR-STR analysis and mitochondrial DNA sequencing. Each of these tests differs markedly from the other, and each is a product of scientific and technological advancements. The advantages, drawbacks, and significance of each procedure are described. The chapter introduces the reader to several important issues related to the interpretation of test data. Some background knowledge of biochemistry and the molecular biology of DNA is necessary to understand the specific details of these technical procedures. It is helpful to have some knowledge of basic statistics and the laws of probability to appreciate the significance of the test results.
The first part of Chapter 4 discusses human genetics, population genetics, and statistics. Mendel's laws of heredity and the Hardy–Weinberg equilibrium are explained. Population genetics provides the scientific foundation for using DNA testing to develop genetic profiles whose frequencies of occurrence are so rare that each can be considered unique to an individual.
In certain cases, where the quality or quantity of nuclear DNA is limited, mitochondrial DNA testing is conducted. In the case of sexual assault, Y-chromosomalof digitized DNA profiles, CODIS, to help' solve Crimes. Biological evidence has been found but where no suspects have been identified by eyewitness or police investigation is also included in Chapter 4. The CODIS database has been especially helpful when serial criminals perpetrate their crimes across state lines. A discussion of several statistical considerations in genetic testing, including the power of discrimination, probability of exclusion, and the likelihood ratio, are also included. There is also a discussion of how to treat evidence that is composed of a mixture of DNA from a number of sources. Regarding the use of DNA in civil law, we provide a discussion of how paternity is currently established by accredited testing laboratories.
The fourth chapter also discusses the need for quality control and quality assurance in the forensic laboratory. Quality assurance is demonstrated by the laboratory's accreditation, certification of its personnel, and proficiency testing. The chapter closes with a review of four DNA reports, the first dealing with RFLP, the second with PCR-based testing including HLA DQA1, Polymarker, and D1S80, the third, describing results of a PCR-STR analysis, and the fourth a paternity report based on DNA testing.
The fifth chapter will provide those who work in the criminal justice system, but who have little or no science background, the ability to understand and interpret DNA evidence with respect to past and present law. This chapter bridges the disciplines of science and the law by focusing on the admissibility of scientific evidence. It shows how the law applies to the evidence that has been collected and analyzed, and the findings and subsequent summary report issued by the laboratory. The chap-ter includes a discussion of the Federal Rules of Evidence, the Daubert, Joiner, and Kumho Tire decisions of the U.S. Supreme Court, as well as the judicial gatekeeping function of judges. It outlines what types of evidence are or are not admissible and relevant cases are discussed. The various aspects of a legal proceeding are detailed, including arraignment, grand jury, discovery, preparation for trial, jury selection and voir dire, opening statements, direct examination, cross-examination, and closing arguments.
The sixth chapter of this book introduces the reader to the concepts and procedures of challenging or defending DNA evidence. It opens with the importance of developing a strategy of how to have DNA evidence admitted at trial. It also explains how to make the best use of an expert witness by thoroughly and properly preparing him or her to testify. There is a discussion of how to introduce the expert and his or her credentials to the court to be deemed qualified as an expert witness. There is a list of issues that should be brought out during direct examination of the expert, allowing the jury to learn about the DNA testing, experimental observations, and, finally, the expert's conclusions.
The chapter then addresses the defense effort to mitigate the effects of DNA evidence being introduced by the prosecution. There are a number of potential routes to attack the admissibility of all or part of the DNA evidence including (a) expert not qualified, (b) expert not certified, (c) laboratory not accredited, (d) lack of discovery,
and (e) improperly obtained evidence. There may be a challenge to the statistics, to the database, or to "insufficient" quality control or quality assurance used in the laboratory, or to a perceived break in the chain of evidence. These arguments may be helpful to the attorney who has never before litigated a DNA trial and can be beneficial for the experienced attorney by its comprehensive review of important issues to be brought out in testimony. It concludes with a discussion of the type of summation that might be effective in trials of this sort.
The seventh and final chapter of this book discusses postconviction appeals based on analysis of existing DNA evidence. It discusses the role of the prosecutor and defense counsel in achieving a just solution for the innocent convict. It also dis-cusses the legal standards governing postconviction testing. The Innocence Project has been highlighted as the first and most successful organized effort to exonerate innocent convicts. The chapter ends with a brief discussion about the future of DNA technology. It attempts to explain how new and improved technology will make analysis of evidence at the crime scene possible. Testing will be far more rapid, more economical, easier to perform, less labor intensive, and even more reliable. Today's technology sometimes fails to identify the source of evidence that had become seriously degraded or corrupted as a result of environmental insult. The same evidence could produce results using the technology of the future. In addition to the currently performed STR analysis, sequencing analysis and SNP detection technology are both likely to become more and more utilized by the forensic analyst. The impact of these changes on the criminal investigatory process and on existing national, state, and local DNA database collections is also explored.
This book is unprecedented in its merger of law with the science of DNA. Now for the first time in a single volume lawyers, judges, scientists, professors, students, and experts can find everything that they need in order to understand the forensic and legal applications of DNA. The science of DNA and its potential in and outside of the courtroom is unlimited. It has already changed the face of jurisprudence as perhaps the single most important development in science and in the law in the past half century. The evolution of the merger has just begun. The book takes the reader on a guided tour of what the future holds in store for all of us, but instead of being mere passive observers, each of us can now be active participants in the ever changing world of science and the law.
MacMillian Science Library Genetics, 4 Volume set edited by Richard
(MacMillian Science Library: Macmillian Reference
To aid understanding and increase interest, most entries
are illustrated with clear diagrams and dramatic photographs. Each entry is
followed by cross‑references to related entries, and most have a list of
suggested readings and/or Internet resources for further exploration or
elaboration. Specialized or unfamiliar terms are defined in the margin and
collected in a glossary at the end of each volume. Each volume also contains an
index, and a cumulative index is found at the end of volume four. A topical
index is also included, allowing students and teachers to see at a glance the
range of entries available on a particular topic.
The twentieth century has been called "the genetic
century," and rightly so: The genetic revolution began with the rediscovery of
Gregor Mendel's work in 1900, Watson and Crick elucidated the structure of DNA
in 1953, and the first draft of the human genome sequence was announced in
February 2001. As dramatic and important as these advances are, however, they
will almost certainly pale when compared to those still awaiting us. Building on
foundations laid over the last one hundred years, the twenty‑first century will
likely see discoveries that profoundly affect our understanding of our genetic
nature, and greatly increase our ability to manipulate genes to shape ourselves
and our environment. As more is learned, the pace of discovery will only
increase, revealing not only the identities of increasing numbers of genes, but
more importantly, how they function, interact, and, in some cases, cause
As the importance of genetics in our daily lives has grown,
so too has the importance of its place in the modern science classroom: In the
study of biology, genetics has become the central science. Our purpose in
creating this encyclopedia is to provide students and teachers the most
comprehensive and accessible reference available for understanding this rapidly
In the four volumes of
MacMillian Science Library Genetics, students will find detailed coverage of
every topic included in standard and advanced biology courses, from fundamental
concepts to cutting‑edge applications, as well as topics so new that they have
not yet become a part of the regular curriculum. The set explores the history,
theory, technology, and uses (and misuses) of genetic knowledge. Topics span the
field from "classical" genetics to molecular genetics to population genetics.
Students and teachers can use the set to reinforce classroom lessons about
basic genetic processes, to expand on a discussion of a special topic, or to
learn about an entirely new idea.
Many advances in genetics have had their greatest impact on
our understanding of human health and disease. One of the most important areas
of research is in the understanding of complex diseases, such as cancer and
Alzheimer's disease, in which genes and environment interact to produce or
prevent disease. Genetics devotes more than two dozen entries to both single
gene and complex genetic disorders, offering the latest understanding of their
causes, diagnoses, and treatments. Many more entries illustrate basic genetic
processes with discussion of the diseases in which these processes go wrong. In
addition, students will find in‑depth explanations of how genetic diseases
arise, how disease genes are discovered, and how gene therapy hopes to treat
Advances in our understanding of genetics and improvements
in techniques of genetic manipulation have brought great benefits, but have
also raised troubling ethical and legal issues, most prominently in the areas of
reproductive technology, cloning, and biotechnology. In Genetics, students will
find discussions of both the science behind these advances and the ethical
issues each has engendered. As with nearly every entry in Genetics, these
articles are accompanied by suggestions for further reading to allow the
student to seek more depth and pursue other points of view.
The explosion of genetic knowledge in the last several
decades can be attributed in large part to the discovery and development of a
set of precise and powerful tools for analyzing and manipulating DNA. In these
volumes, students will find clear explanations of how each of these tools work,
as well as how they are used by scientists to conduct molecular genetic
research. We also discuss how the computer and the Internet have radically
expanded the ability of scientists to process large amounts of data. These
technologies have made it possible to analyze whole genomes, leading not just
to the discovery of new genes, but to a greater understanding of how entire
genomes function and evolve.
The short history of genetics is marked by brilliant
insights and major theoretical advances, as well as misunderstandings and
missed opportunities. Genetics examines these events in both historical essays
and biographies of major figures, from Mendel to McClintock. The future of
genetics will be created by today's students, and in these volumes we present
information on almost two dozen careers in this field, ranging from attorney to
clinical geneticist to computational biologist.
The Seven Daughters of Eve: The Science That Reveals Our Genetic Ancestry by Bryan Sykes (Norton) From Eve, the earliest known hominid, discovered in Africa, geneticist Sykes traces a genetic linkage to seven prehistoric European women. A gifted writer, he conveys the excitement and drama of his discovery of strands of DNA that passed unbroken through the maternal line. He names the seven women he found in that line and extrapolates probable lives for them, based on anthropological data, thereby bringing them to life. His particular quest began with examining the remains of a 5,000-year-old man found in Italy and continued amidst the competitive pressure of other scientists, professional tensions between colleagues, and his sense of the fun involved in making his discoveries. In the end, he can trace living Europeans from some of Eve's seven daughters. Sykes is keenly aware of the professional and human significance of scientific inquiry and discovery, as well as of the woeful history of the use of genetics by racist theories--awareness that adds to this exciting contribution to showing that all humans share a common ancestry.
iGenetics with Free Solutions by Peter J. Russell (Benjamin Cummings) The structure of DNA was first described in 1953, and since that time genetics has become one of the most exciting and ground‑breaking sciences. A continual flood of discoveries not only expands our understanding about heredity but also affects our daily lives in areas ranging from disease therapy to courtroom evidence. Experimentally, the development of gene cloning techniques in the 1970s revolutionized the way we look at genes and their expression, and the development of PCR in the 1980s enabled a second revolution, enhancing our abilities to examine genes at the molecular level. In the past 10 or so years, the rapid advances in molecular techniques have made it possible to consider sequencing entire genomes to identify all genes and to study the organization of genes in the chromosomes. At this writing in 2001, the genomes of many viruses, many bacteria, and some eukaryotes have been completely sequenced. Most importantly, a working draft of the human genome sequence has been accomplished, and efforts are under way to refine the sequence and interpret its contents. Complete genome sequences enable us to focus on genomes rather than individual genes and therefore to ask more complex questions about gene expression. As we move into the postgenomic era, then, our knowledge about genes and gene functions will increase enormously. Thus, it is a very important time to learn about the basic concepts of genetics, and this textbook has been written to teach both the classic and modern molecular aspects of this subject.
iGenetics reflects the dynamic nature of the field of genetics. iGenetics emphasizes an experimental, inquiry based approach, with solid treatment of many research experiments that have contributed to our knowledge of genetics. In this way, students are exposed to the processes of science, learning about the formulation and study of scientific questions in a way that will be of value in their study of genetics and in all areas of science.
A consistent effort has been made to present the important experiments without including excessive facts and detail that could obscure the central concepts of genetics. iGenetics is ideally suited for students who have had some background in biology and chemistry and who are interested in learning the concepts of genetics from a research‑oriented perspective. Great care has been taken to keep the text accessible to students by making it easy to read, with a consistent level of coverage and a logical progression of ideas.
iGenetics contains pedagogical features such as "Principal Points," "Keynotes," "Summaries," and "Analytical Approaches for Solving Genetics Problems," designed to be useful learning tools for students of genetics. Problem solving is a major feature of the book, and the end‑of‑chapter "Questions and Problems" have been consistently praised by class testers. iGenetics maintains a format that allows instructors to use the chapters out of sequence to accommodate various teaching approaches.
iGenetics includes the following features:
• The text has a modern molecular organization to reflect the increasingly molecular emphasis in the experimental study of genes. The text is divided into six major parts: Part 1, "Genes and Their Functions," covers DNA structure, replication, and gene expression; Part 2, "Gene Manipulation and Genomic Analysis," covers DNA cloning and manipulation, applications of recombinant DNA technology, and the analysis of genomes; Part 3, "Principles of Gene Segregation Analysis," covers Mendelian genetics and its extensions, gene mapping, and non‑Mendelian inheritance; Part 4, "Regulation of Gene Expression," covers the control of gene transcription and the genetics of cancer; Part 5, "Genetic Change," covers DNA mutation and repair, transposable elements, and chromosomal mutations; and Part 6, "Genetics of Populations," covers population genetics, quantitative genetics, and molecular evolution. As mentioned earlier, the chapters can readily be used in any sequence to fit the needs of individual instructors.
• Twenty‑four interactive activities called iActivities have been designed to promote interactive problem solving. Found on the iGenetics CD‑ROM, these activities are based on case studies presented at the beginnings of the chapters. An example from Chapter 9 is the analysis of DNA microarray results for a fictional patient with breast cancer to determine gene expression differences and then determine which drugs would be useful for treating her cancer. I have checked all iActivities at every stage of their development to help ensure accuracy and quality. A brief description of the iActivity appears in the text at the appropriate time in chapter, urging students to try it out.
Fifty narrated animations on the iGenetics CD‑ROM help students visualize challenging concepts or complex processes, such as meiosis, DNA replication, translation, restriction mapping, and gene mapping. As with the iActivities, I have been involved with the entire development of the animations, outlining them, editing the storyboards, helping describe the steps for the artists, and working closely with the animators until the animations were complete. We have made a special effort to base the animations on the text figures so that students do not have to think about the processes in a different graphic format. These animations are of very high quality, showing a level of detail not typical of animations that are supplements to texts. A media flag with the title of the animation appears next to the discussion of that topic in the chapter.
The material on recombinant DNA technology and the manipulation of DNA is covered over three chapters. Recombinant DNA Cloning Technology (Chapter 7) discusses how to clone DNA, how to make and screen recombinant DNA libraries, how to analyze genes and gene transcripts, how to sequence DNA, and how to amplify DNA using PCR. "Applications of Recombinant DNA Technology" (Chapter 8) describes how the molecular tools presented in Chapter 7 can be applied to study biological processes, test for genetic disease mutations, isolate human genes, fingerprint DNA, develop gene therapy approaches, develop commercial products, and engineer plants genetically. "Genome Analysis" (Chapter 9) assembles in one chapter an overview of the state of the art of the analysis of genomes, including how genomes are sequenced completely, a summary of the properties of key genomes that have been sequenced, how genome sequences are analyzed, and how transcriptional and translational profiles can be analyzed for many genes simultaneously.
All the molecular aspects of genetics are included so that the book reflects our current understanding of genes at the molecular level.
Human examples are used extensively throughout the text, and discussions include our current molecular understandings of various human genetic diseases. Human genes mentioned in the text are keyed to the OMIM (Online Mendelian Inheritance in Man) online database of human genes and genetic disorders at http://www3.ncbi.nlm.nih.gov/Omini/, where the most up‑to‑date information is available about the genes.The Suggested Reading section contains references to papers that were key to the development of concepts and references to current research in the areas being discussed.
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