Establishing Causality between Population Genetic Alterations and Environmental Contamination in Aquatic Organisms

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Contaminant-induced alterations in genetic diversity or allele/genotype frequencies can occur via genetic bottlenecks, selection, or increased mutation rate, and may affect population growth, sustainability, and adaptability. Determination of causality of genetic effects requires demonstration of some or all of the following criteria: (1) Strength of association: use of multiple reference and contaminated populations, and demonstration of effects that cannot otherwise be explained by evolutionary theory; (2) Consistency of association: effects corroborated by other studies, in other species, or with multiple genetic markers; (3) Specificity of association: concordance of genetic effects with exposure/effect bioindicators, genotypedependant fitness and biomarkers, and consideration of confounding factors; (4) Temporality of effects: use of phylogenetics and analysis of genetic diversity using different methodologies to differentiate historical vs. recent events; (5) Biological gradients: sampling sites that are known to have differing levels of contamination; (6) Experimental evidence: exposure of small populations to contaminants in laboratories, mesocosms, or in situ cages, or measurement of genotype-dependant biomarkers; (7) Biological plausibility: existence of contaminants at levels great enough to affect fitness, recruitment, or mutation rates, or a demonstrated mechanism for selection. Application of these criteria to population genetic studies is illustrated by case studies involving RAPD analysis of mosquitofish populations.

Keywords: causality; ecoepidemiology; environmental contamination; evolutionary toxicology; population genetics

Document Type: Research Article


Affiliations: Texas Tech University, The Institute of Environmental and Human Health, Lubbock, TX 79409-1163. Tel(voice): 806-885-0252, Tel(fax): 806-885-4577;

Publication date: January 1, 2003

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