Determining your mtDNA Haplogroup and Subclade

mtDNA contains SNP markers which are valuable for maternal ancestral studies (unlike Y-DNA, mtDNA does not contain STR markers). SNP markers are found in all 3 regions of the mtDNA: HVR-1, HVR-2 and Coding Region. (see comparison chart).

The mtDNA investigation process involves testing SNP markers in all 3 regions of the mtDNA. Beginners usually start by testing the HVR-1 region as this region contains a large abundance of SNP markers and can be used to predict an individual's haplogroup and allow participation in basic search and comparison features. However, individuals wishing to confirm their mtDNA haplogroup must also examine the SNPs found in the HVR-2 region and the Coding region. Once the mtDNA haplogroup is determined, the subclade can be determined through further SNP testing.*

Individuals starting out with mtDNA analysis usually begin by testing their HVR-1 region. The HVR-1 region contains an abundance of SNP markers which can be used to predict an individual's haplogroup and allow participation in search and comparison features such as DNA Reunion (http://www.dnareunion.org/) and Indigenous DNA (http://www.indigenousdna.org/). The HVR-2 region also contains an abundance of SNP markers which are useful for haplogroup predictions and for DNA searches. The results of the HVR-2 region supplement the HVR-1 region.

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The only way to confirm an individual's mtDNA haplogroup is by all 3 regions of the mtDNA (HVR-1, HVR-2 and Coding region). The SNP backbone test examines SNP markers in the Coding region of the mtDNA which are important for mtDNA haplogroup determination. Testing the HVR-1, HVR-2 and Coding region SNPs allows conclusive determination of a person's mtDNA haplogroup. Alternatively the mtDNA full sequencing test will allow complete testing of all three regions in one single assay.

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Subclade testing involves testing SNP markers in the coding region which will allow further subclassification of a person's haplogroup into subclades. Subclade testing is currently available for mtDNA Haplogroup H and the mtDNA full sequencing test can be used to determine the subclade of all other haplogroups.

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* Individuals who take the full mtDNA sequencing test will be able to confirm their haplogroups and subclades using a single test. Once the entire mtDNA is sequenced, not further mtDNA test will ever be required, even if new subclades and refinements are discovered because this test will decode the entire mtDNA.

In order to confirm the mtDNA haplogroup, SNP testing must be performed in all 3 regions of the mtDNA (HVR-1, HVR-2 and Coding). Individuals can choose to test all 3 regions of their mtDNA at once using the full mtDNA sequencing test, or else test one region at a time. Often, by testing just the HVR-1 region, the mtDNA haplogroup can already predicted. However, in order to confirm the haplogroup, all 3 regions must be tested.

mtDNA HVR-2 testing

What: Testing the entire HVR-2 region of the mtDNA spanning positions 1 to 400 using DNA sequencing technology.
Why: To predict your mtDNA haplogroup, participate in DNA Reunion, DNA Archaeology.
What you will find out: Based on the SNPs in your HVR-1 and HVR-2 regions, the top 5 predictions for your mtDNA haplogroup are obtained.

mtDNA SNP Backbone testing

What: Testing haplogroup specific SNP markers in the Coding Region of your mtDNA.
Why: To confirm your mtDNA Haplogroup.
What you will find out: Based on the SNPs in your HVR-1, HVR-2 and Coding regions, your mtDNA haplogroup is confirmed.

If you have not tested yet, order your test at Genetrack.