Human Genetic Diversity

"A subject collection from Cold Spring Harbor perspectives in medicine."

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

The secrets of our genetic heritage are finally being unlocked. The massive scientific effort to sequence the human genome is in fact just the beginning of a long journey as the extraordinary genetic diversity that exists between individuals becomes clear. Work in this field promises much: to understand our evolutionary origins, to define us as individuals, to predict our risk of disease and to more effectively understand, treat and prevent illness. Contemporary genetic research is allowing the basis of both rare inherited disorders and common multifactorial diseases like asthma and diabetes to be more clearly defined. Huge investments are being made and great advances have been achieved, but the challenges remain daunting. This book provides an authoritative overview of this topical and very rapidly advancing field of biomedical research. Human Genetic Diversity describes the major classes of genetic variation and their functional consequences. A combination of cutting-edge research and landmark historical studies illustrate developments in the field, the rationale for current studies and likely future directions. Major structural variants at a chromosomal level are described, as well as copy number variation and sequence level genetic diversity. Evidence of selective pressures in human populations and insights into human evolution are illustrated. The book describes the development of linkage analysis and more recently genome-wide association studies to define the genetic basis of disease, current approaches to defining functional causative variants and the emerging fields of pharmacogenomics and individualised medicine.

Genetic Variation: A Laboratory Manualis the first compendium of protocols specifically geared towards genetic variation studies, and includes thorough discussions on their applications for human and model organism studies. Intended for graduate students and professional scientists in clinical and research settings, it covers the complete spectrum of genetic variation—from SNPs and microsatellites to more complex DNA alterations, including copy number variation. Written and edited by leading scientists in the field, the early sections of the manual are devoted to study design and generating genotype data, the use of resources such as HapMap and dbSNP, as well as experimental, statistical, and bioinformatic approaches for analyzing the data. The final sections include descriptions of genetic variation in model organisms and discussions of recent insights into human genetic ancestry, forensics, and human variation.

Are humans unique? This simple question, at the very heart of the hybrid field of biological anthropology, poses one of the false of dichotomies—with a stereotypical humanist answering in the affirmative and a stereotypical scientist answering in the negative. The study of human biology is different from the study of the biology of other species. In the simplest terms, people's lives and welfare may depend upon it, in a sense that they may not depend on the study of other scientific subjects. Where science is used to validate ideas—four out of five scientists preferring a brand of cigarettes or toothpaste—there is a tendency to accept the judgment as authoritative without asking the kinds of questions we might ask of other citizens' pronouncements.

Race and Human Diversity is an introduction to the study of human diversity in both its biological and cultural dimensions. Robert L. Anemone examines the biological basis of human difference and how humans have biologically and culturally adapted to life in different environments. The book discusses the history of the race concept, evolutionary theory, human genetics, and the connections between racial classifications and racism. It invites students to question the existence of race as biology, but to recognize race as a social construction with significant implications for the lived experience of individuals and populations. This second edition has been thoroughly revised, with new material on human genetic diversity, developmental plasticity and epigenetics. There is additional coverage of the history of eugenics; race in US history, citizenship and migration; affirmative action; and white privilege and the burden of race. Fully accessible for undergraduate students with no prior knowledge of genetics or statistics, this is a key text for any student taking an introductory class on race or human diversity. Chapter 9 of this book is freely available as a downloadable Open Access PDF at http://www.taylorfrancis.com under a Creative Commons Attribution-Non Commercial-No Derivatives (CC-BY-NC-ND) 4.0 license.

One of the major themes of human population genetics is assaying genetic variation in human populations. The ultimate goal of this objective is to understand the extent of genetic diversity and the use of this knowledge to reconstruct our evolutionary history. The discipline had undergone a revolutionary transition with the advent of molecular techniques in the 1980s. With this shift, statistical methods have also been developed to perceive the biological and molecular basis of human genetic variation. Using the new perspectives gained during the above transition, this volume describes the applications of molecular markers spanning the autosomal, Y-chromosomal and mitochondrial genome in the analysis of human diversity in contemporary populations. This is the first reference book of its kind to bring together data from these diverse sets of markers for understanding evolutionary histories and relationships of modern humans in a single volume.

This volume considers the genetic variability of human populations, particularly in the tropics: its origins and maintenance, and its contribution to the phenotypic variability of complex characters. The first section deals with the ways of analysing genetic variation and provides a valuable review of relevant developments in molecular biology. The origin and maintenance of genetic diversity is considered in the second section with data presented for Pacific, African, Asian and Central American populations. The final section concerns characters in which the genetic contribution to variability is complex and shows how such characters may be used to elucidate biological problems of affinity and differentiation, of adaptation and survival. Published as part of the Decade of the Tropics research programme of the International Union of Biological Sciences, this volume will be of particular interest to human geneticists, physical and biological anthropologists.