Ethan Holleman

Posts with the tag scicom:

I may have polycistic kidney disease: Here's how I designed a DIY genetic test for it

WARNING WARNING WARNING Nothing in this article should be considered medical advice or be diagnostic in any way. This article is purely for educational purposes for those interested in learning about the basic concepts that underlie genetic testing. The bad news and some background on genetic diseases Due to a recent harrowing and ongoing medical odyssey in my immediate family I learned that I have a 50% change of having autosomal dominant polycystic kidney disease. Basically, there is a 50% change I inherited a copy of the polycistic kidney disease II gene that contains a missense mutation. This type of mutation changes a single base pair (letter) of the DNA sequence.