1.  About Maternal Ancestry Testing

What is mtDNA HVR1 Testing?

The mtDNA HVR1 Test is the most informative mtDNA test, and it is always the first test that is performed when you start tracing your maternal ancestry.  The HVR1 region of the mtDNA contains an abundance of SNP markers which provide extremely useful information for determining an individual’s maternal ancestry.  The HVR1 test uses “DNA sequencing” technology to read all of the nucleotides from locations 16,000 to 16,400 of your mtDNA.  This is the entire HVR1 region, located in the D-Loop of the 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.  The results of your mtDNA HVR1 test allows you to trace your maternal ancestry in several ways:

1. Deep Ancestry Analysis: Your HVR1 results will allow you to predict your mtDNA Haplogroup. Haplogroups are ancient family lines that can be traced back over 100,000 years and allows you to trace your ancestry back to ancient origins. 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 mutations are associated to each mitochondrial DNA Haplogroup. By examining your mitochondrial DNA mutations, we can predict the mitochondrial DNA Haplogroup that you most likely belong to. Due to the high number of ancestral markers found in the HVR1 region, testing the HVR1 region alone will lead to a prediction. However, the only way to confirm the prediction is through mtDNA Haplogroup Backbone SNP Testing which focuses on additional markers in the Coding region of the mtDNA.
2. DNA Archaeology:  DNA testing has been used to answer many great anthropological mysteries, ranging from the identity of the remains of the Romanov family to identification of mummies. With your HVR1 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.
3. Direct Comparisons: 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 how closely the two of you are maternally related. Such comparisons are useful for confirming or refuting existing research using traditional genealogy. Search for other users who match your mtDNA maternal line in the database and find out which geographical location or ethnic group has the greatest match to your mtDNA type.

The HVR1 region of your mtDNA contains a high concentration of ancestral markers, and thus the HVR1 test is informative enough to be used “stand-alone” for comparison to others and to make mtDNA Haplogroup predictions to gain information about an individual’s ancient ancestry.  All of the other mtDNA test types serve to supplement the results of the mtDNA HVR1 test.   

Highlights of the HVR1 Test

The HVR1 region is considered the most informative region of the mtDNA for ancestral studies for a number of reasons:

1. The HVR1 region contains an abundance of ancestral markers. The HVR1 region is located in the D-Loop, so it contains an extremely high concentration of mutations (ancestral markers), making this the most informative region of the mtDNA for maternal ancestral studies.
2. The HVR1 region is efficient to test. The entire HVR1 region can be easily tested using sequencing technology. All 400 nucleotides in the entire HVR1 region can be read from a single test.
3. The HVR1 region is well studied.  The HVR1 region is the most well researched region of the mtDNA due to the high concentration of ancestral markers found in this region and ease of testing.  Most scientific studies to date, including indigenous DNA projects and other anthropological studies have focused mainly on the HVR1 region.  Thus, there is more scientific data available for markers in the HVR1 region than any other region of the mtDNA, making the HVR1 region by far the most informative region of the mtDNA.

Prerequisite

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 User searches, comparisons and Haplogroup predictions.  All of the other mtDNA test types serve to supplement the results of the HVR1 test.  There are usually enough markers and hypervariablity within the HVR1 region alone to differentiate between different individuals who are not part of the same Haplogroup or family line.  Also, due to the large number of highly informative markers found in the HVR1 region, your Haplogroup can often be predicted from examining just the markers in your HVR1 region.

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 in fact able to indirectly read the mtDNA genetic code of our own maternal ancestors from thousands of generations ago.