The objective of this book is to review the impact of genetic variation on risk of human disease at the different major levels of organization:: cells, individuals, families, and populations. The volume begins with a discussion of sources and rates of mutation which ultimately give rise to the vast amount of extant genetic variation. This is followed by presentations of current understanding of how genetic variation is maintained within and among populations. The volume ends withdiscussions of the implications of such variation for understanding the evolution of our species. This collection gives an unusually broad treatment of the subject, with chapters from some of the leading workers in the field. James Neels chapter on human consanguinity effects and M. Otakes on thegenetic effects of radiation associated with the dropping of the Hiroshima and Nagasaki atomic bombs should be singled out for special emphasis. As an up-to-date overview of ongoing research, this work will be of interest to a wide range of workers in the fields of human population genetics, evolution, and epidemiology.
Medieval mappaemundi and the conceptual map of genetics:: Changing views of cancer biology and other thoughts; Impact of genetic, somatic, and epigenetic variation on phenotype; Impact of genetic variation in individuals - clonal phenotypes other than cancer; Human consanguinity effects revisited:: Why is the measurable impact of inbreeding so small?; Genetic risks from exposure to the atomic bombs:: Hiroshima and Nagasaki; Genotype by environment interaction - Its a fact of life; Problems and pitfalls in linkage mapping of human genetic diseases:: Illustrations from autosomal dominant retinitis pigmentosa (ADRP); Applications of pedigree analysis to animal models for complex diseases; Genetics of common diseases that aggregate, but do not segregate, in families; Pathodemes:: Heredity, environment, and populations of disease susceptibility; Genetic inferences from epidemiologic investigations; Generalized occupancy problem and its applications in population genetics; The maintenance of genetic variation in bacterial populations; Some theoretical predictions for electrophoretic polymorphisms maintained by balancing selection; Application of our understanding of genetic variation in native North America; Genetic variation and evolution of human populations; Nucleotide diversity in man and evidence for the absence of a severe bottleneck during human evolution; Population genetics and evolution in the genus homo in the last two million years;
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