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Founder Mutations Stay In The Family [podcast]

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Founder Mutations Stay In The Family

Full transcript after the jump...

Some genes that contribute to diseases can be traced back to what’s known as a founder mutation. It’s the first instance of that specific mutation, which then gets carried by all subsequent generations. Mutations in one specific gene are known to give carriers a 69 percent greater risk of colon cancer by the age of 80. But it can be tough to figure out who has it. Luckily the Mormon church keeps great family records.

Researchers at the University of Utah were able to figure out that this mutation occurred in only two extended families, one in Utah and one in New York. So they suspected that somewhere in history lurked a founder. They used colonoscopy information, genetic analysis of family members, and genealogical data and Mormon archives to trace the mutation all the way back to one couple. When Mr. And Mrs. George Fry came to America from England in about 1630 they had no idea that they were bringing along the colon cancer risk gene. Fortunately, the Frys’ hundreds of 21st century descendants can be monitored and treated at the first sign of the disease. — Cynthia Graber

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