General Musing

Happy news, good friends of mine are the proud new parents or a baby girl. They had a shock when the doctors told them many of the indicators for Down Syndrome, which they are now checking. I hope it all goes well for them.

Naturally hearing this made me wonder about myself, Wired recently posted Check Yourself for Genetic Abnormalities. Naturally I don’t really want it done by an expert, it’s more fun to do it yourself so I skipped right done to Perform Lab Tests at Home.

I’ll take you through the steps:

Step 1: Swab some cells from your cheek

Which was easy, I have clean cotton swabs and a cheek. Swabbing was successful.

Step 2: Extract DNA from those cells

Should be just as easy, so I went over to Molecular Devices, as advised by Wired, and tried to get a price for the PicoPure™ DNA Extraction Kit. I should get that sometime today. That’s not going to stop me.

Step 3: Design and Order PCR primers and controls

Eh… Hmm… I got a little stuck on: “Look up the DNA sequence flanking your genetic marker of interest.” I thought I was just figuring out what I want to test myself for and order a matching primer, but what I’m actually doing is building a starting point for my DNA. DNA polymerases, the enzymes that servers as the catalyst for replication, can only add new nucleotides to an existing strand of DNA. In the body it does this with an RNA starting point, which it later fixes.

This would make me an amateur geneticist, that can go on my resume. I’ll have to look through the database at dbSNP and figure out what I want to test myself for.

Step 4: Copy the DNA with the PCR reaction

For this step I need a thermocycler, Wikipedia says that the prices for thermal cyclers start from USD $2500. Even with the falling dollar price this is still expensive. I’ll have to find out if I can borrow one.

Step 5: Sequence the amplified genetic material

The MinElute Reaction Cleanup Kit by Qiagen costs € 96,00.

The Result

Oh, those $£&£$%£ at Wired, they mention it at the end of the article:

Once that’s done, you can buy sequencing equipment and do it yourself, or send the sample off to any one of many sequencing companies and they will do it for about five dollars.

If I send it to a lab, will I still be able to call myself an amateur geneticist?

technorati tags: children, parents, genes, genetics, down, downsyndrome, syndrome, genetictest, pcr, primer, dna, sequence