What do I do at work all day?

(click on the picture above to see it full-sized)

This picture represents the culmination of the work I have been doing of late. Essentially, all the DNA extraction, PCR, gels, etc. are done to obtain this bit of sequence from the genomic DNA. I don't know exactly where in the genome this sequence falls, but it represents the place where Burmese cats (the breed) may have a mutation that will result in a type of GM2 gangliosidosis, an autosomal recessive disease. That means that the cells in their brains won't be able to degrade a certain cellular byproduct, leading to progressively more bodily shaking until they eventually die. The tests I do are diagnostic: trying to see whether cats have this disease or not.

The DNA sequence between the orange arrows represents the normal condition, so this particular cat is normal. In mutant cats, they lack this particular sequence of 15 base pairs--it has been deleted from their genome. Carriers have both the normal and mutant sequences, so you would see two humps in the graph portion from the first orange arrow onwards.

There are several different mutations that can cause similar physical effects, e.g. GM1, GM2 Baker, GM2 activator, GM2 Korat (in Korat breed cats) and GM2 Burmese (in Burmese breed cats). I will test our colony cats for the first four of these, and Burmese breeders from around the world send in their cats' blood samples, which I test for the fifth.

It's pretty interesting stuff! :-)