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Approaches to Determining the Genetic Component of a Disease

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King et al (1984) described the steps necessary to define the genetic mechanisms involved in a disease or trait many years ago, but those steps are still valid today. First, the evidence for a familial component to the condition must be established. Next, the cause of familial aggregation must be determined. That is, clustering in a disease may result from common environmental factors, rather than genetic factors, and these two hypotheses must be evaluated. Finally, the specific genetic factors must be identified and the manner in which they interact with each other and with environmental factors to contribute to the disease etiology must be defined.

Below, several approaches are presented to evaluate whether or not genes contribute to the etiology of a disease, and to quantitate the contribution of those genes to the disease etiology.

Genetic Analysis of Complex Disease

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