I'm mildly bummed. There was a really interesting discussion on cicircle recently of the origins of the Connexin-26 mutation that causes non-syndromic deafness. (Ben's deafness is caused by Connexin-26 -- see this old post.) The most common form of this mutation is a single basepair deletion of G at nucleotide position 35, hence the name 35delG. And it turns out that this particular mutation probably originated in ancient Greece. Which I thought was really cool -- as a mathematician, I'm more or less professionally obligated to venerate the ancient Greeks. I was already imagining Euclid or Pythagoras in my family tree.
Until I looked back at Ben's genetics report and realized that he doesn't have the 35delG mutation. Oh, well.
Ben has two variant types. One is a 1 basepair deletion of T at position 167; this so-called 167delT deletion has a higher carrier frequency among Ashkenazi Jews. The other is a massive 14 basepair deletion from nucleotide positions 313 to 326. The carnage, the humanity. It would be really neat to find out when and where these mutations originated. No, it doesn't change anything. I just like to think about things like this.
I'm sure my mother (a genealogist) has already uncovered lots of other interesting characters in our family tree. But no Pythagoras, alas.
A feedback from a deperate parent
2 weeks ago