Evaluating Human Genetic Diversity (1997) / Chapter Skim
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2 SCIENTIFIC AND MEDICAL VALUE OF RESEARCH ON HUMAN GENETIC VARIATION
2 SCIENTIFIC AND MEDICAL VALUE OF RESEARCH ON HUMAN GENETIC VARIATION
Pages 16-22
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From page 16... ...
There is need for better coordination, comprehensive geographic coverage, standardization of sampling and data-processing, and better compliance with basic standards. To address those needs, research on human genetic variability will require international cooperation and collaboration in the acquisition, examination, and sharing of the resources and knowledge essential to our collective understanding and characterization of the human species.
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From page 17... ...
Recent advances in molecular and statistical techniques might substantially improve our knowledge of the evolutionary dynamics of human populations. For instance, pairwise comparisons of sequence differences among people within a population have shown that such differences retain information regarding the demographic history of the population (Rogers and Harpending 1992; Slatkin and Hudson 1991)
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From page 18... ...
The study of the determinants of human biologic variation has often focused on readily observable phenotypic characteristics, such as height, weight, facial dimensions, skin color, and body composition. Those traits have complex underlying genetic components, and we know little about the evolutionary processes that have led to the extensive variability in them among current human populations.
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From page 19... ...
do we know the relative importance of various evolutionary forces in determining the amount and character of genetic variation within and among populations. Examples of those evolutionary forces include mutation, types of natural selection that can vary temporally and spatially, genetic drift, recombination, and migration.
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From page 20... ...
into actively transcribed genes, such as the antihemophilic factor VIII and neurofibrin, observed as new mutations in patients, has revealed that retrotranspositions are a feature of the human genome. Because some Alu elements are polymorphic, they are useful genetic markers for the study of recent human population differentiation (Batzer and others 1996~.
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From page 21... ...
, natural selection, and genetic drift; · Gene-environment interactions phenotypic variation and pharmacogenetic and toxicologic implications; · Linkage disequilibrium associated with relatively common disorders, such as diabetes, asthma, and bipolar disease; · Complex genetic traits associated with specific aberrant behavioral characteristics, such as aggressivity and alcoholism; · Genetic factors linked to multivariate non-disease-related characteristics, such as height, intelligence, and aging; · Genotype associations predisposition to particular cancers, autoimmune disease, and other disorders;
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From page 22... ...
The specifics of how such applications could be made more scientifically rigorous pose some dilemmas in the design and conduct of a survey of genetic variation. It is possible that a few of the above applications might be addressed directly, with narrowly confined information from each individual sampled and with small to moderate samples, but most biomedical investigations will require considerably larger samples and substantially more information on each person sampled than the committee deems practical on a global scale.
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