The major steps to accomplish a genetic linkage study are listed (This is also an outline of the presentation).

First, a family must be identified with a well characterized disease.

Second, a careful survey of the 23 human chromosomes IN EACH FAMILY MEMBER is made to identify the one segment of DNA that is ALWAYS inherited with the disease. This identifies a single region of a chromosome that contains the affective gene.

Third, the genes in the segment of DNA identified in step 2 are sequenced in order to identify the disease-causing mutation.

Fourth, once the mutation is identified, then the genetic code is solved to reveal the normal protein and abnormal protein caused by the mutation. Scientist and physicians can then determine how the mutation caused the inherited disease.

Whitcomb et al 1996