1.  About mtDNA Haplogroup Backbone SNP Testing

What is mtDNA Haplogroup Testing?

The unique set of SNP markers that you carry in your mtDNA allows you to track your “deep ancestry’, ie. your ancestry from tens of thousands of years ago and discover your mtDNA haplogroup.

Haplogroups relate to our deep ancestry.  Deep ancestry is not traditional genealogy:  it is not for tracing family or confirming family linkages.  Deep ancestry is a look at our ancient ancestral roots from tens of thousands of generations ago and shows how all people living today are connected to an ancient ancestor who lived in Africa over 100,000 years ago.

Our mtDNA, which is passed down from a mother to her children shows that all people living today shared a common female ancestor who lived in Africa over 100,000 years ago.  She is often termed the “Mitochondrial Eve”.



The type of genetic markers used to build the human phylogenetic tree are called SNPs (single nucleotide polymorphisms).  SNPs are small “mistakes” that occur naturally in your DNA.  SNP mutations are rare, occurring at a rate of approximately one mutation every few hundred generations.  However, once a mutation occurs, it acts as a “time-and-date-stamp”, because it is passed on to all future generations.  Each mutation event can be linked to a time and place in history, and by testing the mutations in your mtDNA, you can retrace the history of your ancient ancestors.  SNP markers are found in both the mtDNA and the Y-DNA.  SNPs found in the mtDNA are used to trace maternal ancestry, and SNPs found in the Y-DNA are used to trace paternal ancestry.

The mtDNA phylogenetic tree has approximately 26 main branches “mtDNA haplogroups” classified by the letters ”A to Z”.  Each mtDNA haplogroup has many further sub-branches (subclades), classified by numbers and letters, i.e. L1a1, L1a2, L1b, etc.  All people living today have descended from of the main branches of the human mtDNA phylogenetic tree.

The diagram below is a phylogenetic tree illustrating how all people living today share a common maternal ancestor, the “mitochondrial eve”.  Click here to download a detailed copy of the mtDNA Haplogroup Map.



By testing the SNP markers in your mtDNA, you will be able to tell which branch of the mtDNA haplogroup tree you belong to.

Of course, each main branch has further sub-branches or “sub-clades”.  Once you know which mtDNA haplogroup you belong to, you can then focus on your mtDNA sub-clade through “sub-clade testing”.

About the mtDNA Haplogroup Backbone SNP Test Panel

Your mtDNA consists of 3 regions:  HVR1, HVR2, and Coding.  While the HVR1 and HVR2 regions alone can provide ancestral information and may allow you to predict your mtDNA haplogroup, the coding region must be tested in order to confirm your mtDNA haplogroup.

The mtDNA Haplogroup Backbone SNP Test is a special panel of approximately 20 markers in the Coding Region of the mtDNA which are specific for mtDNA haplogroup determination when used together with the HVR1 and HVR2 results.  By testing just the HVR1 or HVR2, you will only receive part of the “picture” of your mtDNA.  The SNP Haplogroup Backbone Test will allow you to view important markers in the Coding Region of your mtDNA and confirm your mtDNA Haplogroup. 

These 20 SNP markers are the defining markers for determining an individual’s mtDNA haplogroup when used together with the HVR1 and HVR2 results.  The chart below lists the 20 markers that are included in this panel, and the mtDNA haplogroups that they define.

The following table illustrates all of the SNPs that are examined in the SNP Haplogroup Backbone Test:

SNP Location	Mutations	mtDNA Haplogroups
2352	T > C	L1b, L3e, U6b1
3594	C > T	L0, L1, L2, L5
3693	G > A	L1b, L2d
4312	C > T	L0
4580	G > A	V
4833	A > G	G
5178	C > A C > T	D
7028	C > T	H*
7055	A > C A > G	L1
7598	G > A	E
8618	T > C	L3d
10086	A > G	L3b
10310	G > A	F
10400	C > T	C, D, E, G, M, Q, Z
10873	T > C	C, D, E, G, L, M. Q, Z
11251	A > G	JT, J, T
11719	G > A	Pre-HV, HV*
12308	A > G	K, U
12705	C > T	B, F, H, J, K, P, T, R, U, V
14766	C > T	HV*

2.  Determining your mtDNA Haplogroup:

To follow is a basic step-by-step guide on how the mutations in your mtDNA are used to determine your mtDNA haplogroup:

Step #1:  Download and print the Haplogroup Reference Guide	Click here to download and print the mtDNA Haplogroup Reference Guide.   This guide is a valuable reference tool for you.
Step #2:  Gather your mutations	Determine which mtDNA tests you have taken and which ones you did not take yet. The HVR1 Test will show you all mutations between 16000 to 16400 (shown in blue). The HVR2 Test will show you all mutations between 1 to 400 (shown in red). The SNP Haplogroup Backbone Test will show you all relevant mutations in the Coding Region (shown in black).
Step #3:  Identify your mutations on the Reference Map	Your mtDNA results report will always include a mutation table.  Examine your mutations table and circle your mutations on the Reference Map. Starting from the CRS, circle the mutations that you have, put a question mark next to the ones that you have not tested, and put an "X" over the mutations that you do not have. Follow the path of your mutations away from the CRS.  Ignore the markers that you did not test. The final destination of the path of your mutations is the mtDNA haplogroup that you belong to.