Founder Mutations Stay In The Family
Some mutations, including those responsible for genetic diseases, can be traced back to the first individual who exhibited the new genetic construct. Cynthia Graber reports.
SUBSCRIBE TO Science Quickly
On supporting science journalism
If you're enjoying this article, consider supporting our award-winning journalism by subscribing. By purchasing a subscription you are helping to ensure the future of impactful stories about the discoveries and ideas shaping our world today.
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
It’s Time to Stand Up for Science
If you enjoyed this article, I’d like to ask for your support. Scientific American has served as an advocate for science and industry for 180 years, and right now may be the most critical moment in that two-century history.
I’ve been a Scientific American subscriber since I was 12 years old, and it helped shape the way I look at the world. SciAm always educates and delights me, and inspires a sense of awe for our vast, beautiful universe. I hope it does that for you, too.
If you subscribe to Scientific American, you help ensure that our coverage is centered on meaningful research and discovery; that we have the resources to report on the decisions that threaten labs across the U.S.; and that we support both budding and working scientists at a time when the value of science itself too often goes unrecognized.
In return, you get essential news, captivating podcasts, brilliant infographics, can't-miss newsletters, must-watch videos, challenging games, and the science world's best writing and reporting. You can even gift someone a subscription.
There has never been a more important time for us to stand up and show why science matters. I hope you’ll support us in that mission.
