See Inside October 2005

Founder Mutations

A special class of genetic mutations that often cause human disease is enabling scientists to trace the migration and growth of specific human populations over thousands of years

Two middle-aged men who live thousands of miles apart in the U.S. and have never met each other may have a common trait: a propensity to absorb iron so well that this seeming benefit can actually become unhealthy, potentially causing multiple-organ damage and even death. Someone with this condition, called hereditary hemochromatosis, often has it because each of his parents passed on to him the same mutation in a specific gene, an error that originated long ago in a single individual in Europe. The mutation was then carried through time and space in that European's descendants, who now include some 22 million Americans possessing at least one copy of the gene--including the two men, who might be surprised to learn that they are related. The long-gone ancestor is known as the founder of this population, and his or her genetic legacy is called a founder mutation.

Geneticists have discovered thousands of mutations responsible for diseases in humans, but founder mutations stand apart. The victims of many genetic diseases die before reproducing, stopping the mutant genes from reaching future generations. But founder mutations often spare their carriers and therefore can

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