Tuesday, January 25, 2011

A comparison of my 23andMe mtDNA v3 and v2 results

There are 13 false positive SNPs that are being found in practically everyone's v3 mtDNA results. No doubt, 23andMe will soon remove them as they are aware of the problem. This post will ignore those since they are clearly in error.

As I mentioned yesterday, my reported mtDNA subclade did not changed in my v3 results and is correct - U5b1b2. According to an analysis done by Dr. Ann Turner of my mtDNA data, there are 795 new SNPs in my v3 results, of which 99 are no-calls for me. I had 28 no-calls out of 2133 SNPs in v2 of the chip. 21 of those had calls in v3. The higher rate of no calls on the v3 versus the v2 is because many of the news SNPs are experimental. If it becomes evident that people are getting no-calls for the same SNPs, the list may be pruned by 23andMe to eliminate them.

All SNPs where calls were made in both chips gave identical results.

I have one miscall 16192C, where I have a mutation 16192T. This also occurred in v2 of the chip (and also in my cousin).  According to Dr. Turner, "It is probably due to the fact that it is very close to the poly-C region surrounding 16189. The probes just don't work well in repetitive regions like that. (Side note: 16189C is a very common mutation, so Mother Nature has a bit of a problem there, too!)."

Here is a list of my CRS values:

16184 C
16185 C
16186 C
16187 C
16188 C
16189 T
16190 C
16191 C
16192 C
16193 C

Thank you to Dr. Turner for her generous time and efforts to help all of us to better understand our mtDNA and 23andMe results.

To read more about my mtDNA tests, you can see my post about my Full Mitochondrial Sequence (FMS) test from FTDNA here.

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