Sunday, July 24, 2011

Ancestral DNA: mtDNA Haplogroup Results

Our mtDNA haplogroup results are in and we belong to the H haplogroup. The haplogroup H is predominantly European and originated outside of Europe before the last glacial maximum. It is believed that at least 40% of all mitochondrial lineages in Europe belong to the H haplogroup.

Within the H haplogroup there are several subclades (H1, H2, H3, etc.) and ours is H2. The H2 subclade is found in the highest frequency in Eastern Europe and the Caucasus (it can also be found in Western Asia). The H2 subclade is broken down even further into H2a and H2b. We fall under the H2a division, which is found most frequently in Eastern Europe, but is not found in Asia like the H2b group.

Our exact result was H2a2a (which happens to also be the CRS)! This means that we exactly match the CRS without any mutations or insertions on both the HVR1 and HVR2. I have joined several H2a2a forums online and most of the participants have Scandinavian or Northern European heritage. Which aligns with the research I have done tracing our maternal ancestors to Norway.

However, it gets even more interesting when we drill down even further and look at our CR (coding region). Most mtDNA test do not include this result, but we went with the full sequence test and it was well worth it because we have a very unique CR mutation at position 9299. We have G instead of the CRS's A. From my research online, it appears that our 9299G mutation is a silent mutation, so we shouldn't have to worry about any health related issues.

Our CR 9299G result is pretty rare. The references I have found in forums to it indicate that people with this mutation have ancestors from Scandinavia (3 of us so far). It isn't in the PhyloTree (most complete mtDNA tree available) yet, but once there are more results with this mutation, it could be added.

I will post more as information becomes available.


  1. Jasia of Creative Gene is also an "H," and a few years ago was publishing to a Haplogroup H blog she created. She doesn't maintain it any longer, but you might find some good resources there:

  2. I just found I am in Haplogroup H, that they took down further to H1bb, I am working on understanding, so I am revisiting some of my old friends who have already been there. Thanks for the post.