Thursday, October 2, 2008

Working with my mtDNA Results - Post 1

I posted the last two days about receiving my mitochondrial DNA results from in My mtDNA is in the K Haplogroup and My mtDNA Results on GeneTree.

In the latter post, I showed some screen shots of my mtDNA results, a K Haplogroup distribution map and discussed my mtDNA matches. Emily and Utah Grammie commented on this second post, which I really appreciated.

As I understand it, the differences between my mtDNA and the Cambridge Reference Standard (CRS) mtDNA sample are:

Tested HVR1 between 15975 and 16579

* 16224 - I have C, CRS is T
* 16266 - I have T, CRS is C
* 16311 - I have C, CRS is T

Tested HVR2 between 1 and 584

* 73 - I have G, CRS is A
* 146 - I have C, CRS is T
* 195 - I have C, CRS is T
* 263 - I have G, CRS is A
* 309.1 - I have C, no CRS
* 315.1 - I have C, no CRS

The GeneTree results don't identify the HVR1 and HVR2 regions specifically, but I think I have them identified correctly above. If not, I'm sure someone will help me out.

Besides the 70 matches (2 exact, 21 with one difference, and 47 with two differences) identified in the GeneTree results, I was sure that there are other web sites that provide mtDNA Haplogroup K results and therefore potential matches. I went searching for them. I found:

* Swinging in the mtDNA Tree provided more information about the overall DNA tree and some references for Haplogroup K studies..


"mtDNA haplogroup K has been traditionally defined by HVR1 mutations 16224C and 16311C. Virtually all K's also have 16519C and HVR2 mutations 073G, 263G, and 315.1C. The latter three show up because the Cambridge Reference Sequence (CRS) is in the minority for those loci. 16519C has been called a “hotspot”; but that does not mean, at least for K, that it mutates often. It simply means that it is found in several different haplogroups. Oddly enough, no K haplotype in mitosearch has just those six basic mutations. Two entries are missing 16311C. Two are missing 16224C; one of those has 16224A instead. One is missing 16519C. Any of those could be a typographical error. The lack of one or more of the three basic HVR2 mutations is not uncommon."

Yep - I have 16224C and 16311C in HVR1 and 073G, 263G and 315.1C., but not 16519C. I'm missing 16519C, but it says that is not uncommon. My uncommon ones appear to be 16266 in HVR1 and 146C, 195C and 309.1C in HVR2.

* mtDNA Haplogroup K (Katrine's Clan) Website -- this site is the FamilyTreeDNA K Haplogroup site administered by William Hurst, who had the previous web site also. This led me to the next two sites:

* High-Resolution K Entries from MitoSearch -- this site has results for about 300 specific tests. I haven't compared my results to these yet.

* Ian Logan's mtDNA site - this has links for all mtDNA Haplogroups. The K1 and K2 sites list specific marker differences to the CRS. I looked through the K1 and K2 charts and did not understand them completely - I need to revisit it.

I would appreciate knowing any other web sites that I could search for matches to my own mtDNA results.


TheGeneticGenealogist said...

Mitosearch is definitely the big one. Have you tried Does the GeneTree site search the entire SMGF database for matches? If not, you could search there as well.

Colleen - the AmAzINg Mrs. B said...

Hi it me again. Yes, GeneTree , as a Sorenson company, has access to the SMGF full database! And, here is the listing of markers for the mtDNA:
HVR1 16000 to 16569
HRV2 11110 to 00437
HRV3 00438 to 00576

Hope this helps :-)