mtDNA Test Results

The Pike Surname DNA Project relies on Y-chromosome analysis in order to compare relationships between paternal lines. This is because the Y-chromosome is passed from fathers to their sons, which is an inheritance pattern that is usually also followed by surnames.

In contrast, mitochondrial DNA (mtDNA) is passed from mothers to all of their children. Since mtDNA is inherited from one's mother, it generally is not associated with a particular surname for more than a single generation.

However, one possible utility of mtDNA testing towards assisting with Pike genealogy would be to establish the mtDNA genetic signatures of certain female Pike ancestors. As a hypothetical example, suppose that sombody has been able to trace part of their family tree back to John & Elizabeth Pike, but that's where the genealogical trail goes cold. In addition to doing Y-DNA tests on John's direct male descendants, there might be some benefit in doing mtDNA tests on Elizabeth's direct female descendants. Genetic matches with others that share Elizabeth's mtDNA signature might help to identify other relatives of Elizabeth, which might also help to shed some light on Elizabeth's origins. New discoveries about Elizabeth could in turn lead to a genealogical breakthrough regarding John & Elizabeth, thereby promoting Pike genealogy.

Anybody (whether male or female) who's mother's mother's ... mother's mother was a female Pike is welcome to join the Pike DNA Project and have their mtDNA tested. To do so, go to this webpage at FamilyTreeDNA and then select either the "mtDNA" test or the "mtDNA Plus" test. The "mtDNA" test will only reveal information about the HVR1 mutations, whereas the "mtDNA Plus" test looks at both HVR1 and HVR2. So if it is feasible, the "mtDNA Plus" test is recommended. That said, the most economical way to proceed would seem to first sign up for a mtDNA test in conjunction with the National Geographic Society Genographic Project for $99; once your HVR1 results are ready you can then upload to the FamilyTreeDNA database and order a refinement to HVR2 for a further $75 (in comparison, to sign up directly for the "mtDNA Plus" test with FamilyTreeDNA would cost $189). One other piece of advice: I'm told that the Genographic Project asks you to state your gender (male or female) and then does either a Y-DNA or mtDNA test based on your answer, so to ensure that you get a mtDNA test you might have to say that it is a female sample that is being submitted (even if the sample is in fact from a male).

HVR1 Mutations HVR2 Mutations mitosearch
23996 T2b21 16126C,16169T,16294T,16304C,16519C 73G,152C,263G,309.1C,315.1C KNA9C
24697 I 16129A,16172C,16223T,16311C,16391A,16519C 73G,199C,203A,204C,250C,263G,309.1C,315.1C,455.1T 4GNS9
N21510 H5a 16302G,16304C 146C,263G,309.1C,309.2C,315.1C,456T A49GF
223192 H 16189C,16519C    

Questions and Answers concerning mtDNA Test Results

What are HVR1 and HVR2?

These are two hypervariable regions of mitochondrial DNA. These regions each consist of about 570 nucleotides (i.e. Adenine, Cytosine, Guanine, and Thymine) and are fully sequenced as part of the analysis done when performing a mtDNA test.

In 1981 researchers at Cambridge successfully sequenced the entire genome of a human mitochondrion. The sequence for this particular mitochondrion is now known as the Cambridge Reference Sequence (CRS) and is used as the reference to which all other mtDNA tests are compared. The CRS begins HVR1 as ATTCTAATTTAAACTATTCT..., with the first nucleotide having index 16001 (and the last one in HVR1 having index 16569).

Any insertions, deletions, or alterations of nucleotide values are reported as mutations as compared against the Cambridge Reference Sequence. These three mutation types are reported with the following syntax:

Mutations within HVR2 are reported with the same syntax. However, the index values for HVR2 range from 1 to 574. So when looking at a mutation, such as "199C", it is important to be aware of which region the mutation belongs to. If in HVR1, 199C actually means that there is a C in position 16199, but if we're dealing with a mutation in HVR2 then its location is in position 199.

For more information, you can consult this document that FamilyTreeDNA has prepared to help people understand their mtDNA test results.

What constitutes a mtDNA match?

mtDNA mutates at a much slower rate than Y-DNA. With Y-DNA, "close matches" (especially when the people share the same surname) often indicate that they have a common forefather in recent generations. However, with mtDNA, it is pretty much necessary to have an exact match in order for two people to have a common foremother in recent generations.

Information provided by FamilyTreeDNA states that when two people have an exact match on their HVR1 results, that only about 50% of the time did their common foremother live in the past 52 or fewer generations. With a perfect match on both HVR1 and HVR2, about 50% of the time the foremother would have lived in the past 38 or fewer generations.

So anybody wanting to use mtDNA to help them with their genealogical research is encouraged to have their HVR2 region tested in addition to HVR1. Admittedly, when two people have a "high-resolution match" (meaning they have a perfect match on both HVR1 and HVR2) their common foremother might have lived too many generations ago to be identified. However, by pursuing these matches and comparing family information, people are sometimes able to make a genealogical breakthrough.

How can matches with other people be found?

Customers of FamilyTreeDNA are automatically notified by email whenever another customer's test results are found to be an exact match (either on just HVR1, or on both HVR1 and HVR2), provided that both customers have given consent for FamilyTreeDNA to share their results when such matches occur. The names and email addresses of these matching people would be listed on the "mtDNA Matches" portion of your personal webpage on the FamilyTreeDNA website.

A free public database is also available at, where it is possible to search for other people who have matching mtDNA test results. Customers of FamilyTreeDNA can easily upload their mtDNA test results into the database by following the "Click here to upload to" link on the "mtDNA Matches" section of their personal webpage on the FamilyTreeDNA website.

To see what a search result at actually looks like, you can click here to do a search on my test results. Mine are the results with code KNA9C. As of August 2005, I have no perfect matches, but if it were not for the 16169T mutation in my HVR1 results then I would have several exact matches (including one high-resolution match).

What are haplogroups?

People's mtDNA test results, depending on which mutations they have, are used to assign them into one of about 20 or so groups (called haplogroups) such that those within each group have similar sets of mutations. In essence, mtDNA haplogroups give an indication of the extremely distant origins of people's direct maternal lines of ancestry. Brief descriptions for the haplogroups for the Pike project participants is as follows:

Note that mtDNA haplogroups are different than Y-DNA haplogroups. Both use letters and numbers, but there is no correlation between the two.

FamilyTreeDNA has prepared a pie chart showing the relative frequency of each mtDNA haplogroup among the samples analysed by FamilyTreeDNA.

Where can I find more information?

More information about mtDNA is available from:

Also of interest is the mtDNA haplogroup map that appears on page 5 of this document (by J.D. McDonald) that shows the geographical prevalence of various haplogroups, which in turn gives a general indication of the ethnic and geographic origins of various haplogroups.

Some other resources are listed below:

Last Modified: Saturday, 24 May 2014, 16:46:13 NDT