Purpose of test: This is the core mtDNA test for tracing your maternal ancestry. This test examines the entire HVR1 or HVR2 region of your mtDNA to uncover ancestral information about your maternal lineage (your mother's mother's line). The results of this test can be used for mtDNA Haplogroup prediction, DNA Reunion Searches to find potential family tree links and Indigenous DNA Searches to see which indigenous population is most similar to your DNA type. Please note that the mtDNA contains 3 regions: HVR1, HVR2, and Coding. Testing only the HVR1 and HVR2 regions will allow you to predict which mtDNA Haplogroup you most likely belong to. Testing markers in all 3 regions is required in order to conclusively confirm your mtDNA Haplogroup and Subclade. The Coding Region test can be obtained subsequent to HVR1 and HVR2 testing.
Availability: Open to both males and females.
What is mtDNA Testing?
The mtDNA contains 3 regions: HVR1, HVR2, and Coding Regions. By testing only your HVR1 and HVR2 regions, you can predict which mtDNA Haplogroup you most likely belong to. By testing markers in all 3 regions, you can conclusively determine which mtDNA Haplogroup and Subclade you belong to.
The mtDNA HVR1 and HVR2 Tests are the two most informative mtDNA tests, and they should always the first two tests that are performed when you start tracing your maternal ancestry. While the HVR1 region alone can be used to obtain a meaningful prediction for some mtDNA Haplogroups, in many cases, the HVR2 region is also required in order to get a good mtDNA Haplogroup prediction. The HVR1 and HVR2 tests use “DNA sequencing” technology to read all of the nucleotides in the entire HVR1 and HVR2 region of your mtDNA.
Determining your Maternal Ancestry
Your set of mtDNA markers is unique to you and your maternal line and contains valuable information about your maternal ancestors. mtDNA is passed down strictly from mother to child. By testing your mtDNA, you will be tracing the ancestry of your direct maternal lineage (your mother's, mother's, mother's..... maternal lineage). The results of your mtDNA test allows you to trace your maternal ancestry in several ways:
- Deep Ancestry Analysis (mtDNA Haplogroup): Your HVR1 and HVR2 results will allow you to predict which mtDNA Haplogroup you descended from. Haplogroups are ancient family groups and the study of Haplogroups pertain to "deep" ancestry. Unlike tracing family lineages in traditional genealogy, 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. To date, over 28 major mtDNA Haplogroups have been identified, and a unique set of markers are associated with each mtDNA Haplogroup. By examining markers in the HVR1 and HVR2 regions of your mtDNA, you can predict the mtDNA Haplogroup you most likely belong to. However, the only way to confirm the prediction is through mtDNA Haplogroup Backbone SNP Testing or the Coding Region Full Sequencing test which focus on additional markers in the Coding Region of the mtDNA.
- DNA Archaeology: DNA testing has been used to answer many anthropological mysteries, ranging from the identity of the remains of the Romanov family to identification of mummies. With your mtDNA markers, you can compare your own mtDNA to the findings in these fascinating studies and see how you may be linked to ancient families and figures.
- DNA Reunion: By testing your mtDNA, you will discover the unique set of ancestral markers that were passed down to you from your maternal ancestors along your direct maternal line. You can compare your mtDNA markers to others to determine whether there is a possible maternal link. Such comparisons are useful for confirming or refuting existing research using traditional genealogy.
- Indigenous DNA: Compare your mtDNA markers with a large database of indigenous populations from around the the world to see which population most closely matches your mtDNA type.
Highlights of the HVR1 and HVR2 Tests
The HVR1 and HVR2 regions are considered the most informative regions of the mtDNA for ancestral studies for a number of reasons:
- The HVR1 and HVR2 regions contains an abundance of ancestral markers. The HVR1 and HVR2 regions are located in the D-Loop region of the mtDNA and contain an extremely high concentration of mutations (ancestral markers), making this the most informative region of the mtDNA for maternal ancestral studies.
- The HVR1 and HVR2 regions are efficient to test. The entire HVR1 or HVR2 region can be easily tested using sequencing technology. All 400 to 500 nucleotides in the entire HVR1 or HVR2 region can be read from a single sequencing test.
- The HVR1 and HVR2 regions are well studied. The HVR1 and HVR2 regions are the most well researched regions of the mtDNA due to the high concentration of ancestral markers found in these regions and ease of testing. Most scientific studies to date, including indigenous DNA studies and other anthropological studies have focused mainly on the HVR1 and HVR2 regions. Thus, there is more scientific data available for markers in the HVR1 and HVR2 regions than any other region of the mtDNA, making the HVR1 and HVR2 regions by far the most informative regions of the mtDNA.
There is no prerequisite for taking the HVR1 test. The HVR1 test is always the first and most fundamental test that is performed when using mtDNA to trace ancestry. The HVR1 test can be used “stand-alone” for searches, comparisons and Haplogroup predictions. The HVR2 test can be ordered at the same time as the HVR1 test or subsequent to HVR1 testing.
2. How it works
Maternal inheritance pattern of mtDNA
mtDNA has a very unique inheritance pattern which differs from all the other types of DNA in our body. It is passed down along the maternal line from a mother to all of her children. Males will carry the mtDNA of their mother, but when they have children, their children will carry the mtDNA of their own mother, not their father. Thus, only daughters will pass the mtDNA on to future generations.
Why does it hold ancestral information?
The maternal inheritance pattern of the mtDNA has important significance for ancestral studies. While most of the other types of DNA in our body are mixed as they are passed down from generation to generation, the mtDNA remains unmixed because it has a strict line of descent from mother to child. This means that our mtDNA is the same as our mother’s and our mother’s mother’s mtDNA from hundreds, even thousands of generations ago. By testing our own mtDNA, we are able to indirectly read the mtDNA genetic code of our own maternal ancestors from thousands of generations ago.