Establishing genotype/phenotype relationships: Gene targeting as an experimental approach

Philosophy of Science 64 (4):278 (1997)
In this paper, I examine an experimental technique, gene targeting, used for establishing genotype/phenotype relationships. Through analyzing a case study, I identify many pitfalls that may lead to false conclusions about these relationships. I argue that some of these pitfalls may seriously affect gene targeting's usefulness for associating phenotypes with genes cataloged by the Human Genome Project. This case also shows the use of gene targeted mice as model systems for studying genotype/phenotype relationships in humans. Moreover, I argue that it reveals the weakness of one attempt to draw conclusions about the biological determination of sexual and aggressive behaviors in humans
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