Mutant Life

When I was at the FORCE conference, I was at dinner with my conference roomie and new friend I made. They were talking about what kind of mutation they had and spouting out all these numbers and letters and saying things like “Swedish founders.” I had no clue what they were talking about and asked what it all meant. They let me know that there are tons of variations within the BRCA gene and there is a series of letters and numbers below the gene mutation that indicates which variation you have.

I immediately emailed my mom because I know she had a copy of my genetic testing paperwork (thanks mom for being über organized) and asked her to email me my “mutant code.” She responded really quickly with the code – 6174delT. She followed up with “ps- mine is the same.” Once I got back to the hotel room, my conference roomie helped me to look up the gene. As soon as I entered the sequence, lots of results populated on Google. Turns out, my specific gene is the Ashkenazi Jewish founder mutation. From what I understand, this means that when the Ashkenazi Jewish population was decimated and started to repopulate, the 6174delT gene carried on. Or, according to Berkeley “A founder effect occurs when a new colony is started by a few members of the original population.”

This discovery was really interesting to me and I’m looking forward to doing more research on it!

6174

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