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Mitochondrial DNA Results - What Do They Mean and What Do I Do With Them?
Roberta J. Estes (copyright 2010), all rights reserved
DNA testing for
genealogy celebrated its 10th anniversary this year.
Most of us, by now, are familiar with Y-line DNA testing.
These families are relatively easy to follow because the Y chromosome
also follows the paternal surname. If
a male Estes tests, for example, then his Y chromosome, and therefore his test
results, should be the same as his father, his grandfather and so on, with maybe
a mutation or two on upstream. The
Y chromosome follows the surname so the genealogy is easy - or as easy as
genealogy ever gets.
is different and many people make the mistake with both Y-line and mitochondrial
DNA testing of thinking that you take the DNA test, and voila, your genealogy is
magically set forth before you. That's
not the case with any type of DNA testing.
Working on the
female lines of our family is always more challenging due to the name changes.
If marriage records are not available, there are a few ways to determine
surnames of wives, but these are not always successful.
Bibles are wonderful tools of course, but many times they don't survive.
Wills of the wife's father are another excellent way to determine a
surname, but this only works if there was a will, it still exists, and the
records of that particular county have an "every name" index.
Sometimes the will is in another location and the name in that other
location remains unconnected to the woman and her husband in a different county.
Sometimes when there was no will, there are still estate administrative
papers that are loaded with information, but these types of records are rarely
indexed or published.
In later years,
cemetery records and some church records will contain maiden names, and of
course, in the 1900s and in some locations somewhat earlier, death certificates
will sometimes reveal maiden names. Many
death certificates say "unknown" for the mother's name or her surname,
and sometimes the information is incorrect.
When you're looking for surnames, don't forget to check the information
of siblings as well who shared the same mother.
DNA is another tool
in the genealogists toolbox, but it's not an absolute answer.
Let's look at the information we received from Family Tree DNA relative
to mitochondrial DNA testing and results.
The first thing
most people want to know is if they are Indian, African or European.
Generally, this is quite straightforward and easy to determine.
The haplogroup gives us that answer.
Haplogroups A, B, C, D and X2 are Native American.
If you happen to be X2, some additional analysis needs to be done as some
X2 is European, but X2 is quite rare. Haplogroup
L is African. Haplogroups H, I, J,
K, T, U and V are European. If you
are assigned a different haplogroup not listed above, it's rare and needs
special analysis. Of course, you
maybe a subgroup of any of the above haplogroups, such as H1a for example.
assigned based on the mutations found in your mitochondrial DNA. There
are 16569 locations in your mitochondrial DNA.
Think of this as a clock. The
HVR1 test tests the DNA from 11:55 to noon on the clock.
The HVR2 test then tests the DNA between noon and 12:05. The full sequence test tests all of your mitochondrial DNA.
Some haplogroup subgroups cannot be assigned without the full sequence
test, and some haplogroup subgroups have very unique migration patterns.
reported by comparing your results with the CRS, or Cambridge Reference
Sequence. That is simply the
reference model that is considered the "norm", and everyone else is
compared to it and differences are reported as mutations.
This makes it easy to compare our results to those of others.
Most people have
many mutations. Typically 2 or 3,
or sometimes more in the HVR1 and HVR2 regions, respectively, and several in the
coding region, which is what the area that is not the HVR1 or HVR2 regions is
called. If you recall, this would
be the time on the clock between 5 after and 5 till the hour.
Let's say you have
a mutation in the HVR1 region of 16519C and a mutation in the HVR2 region of
522C. If you match someone at in
the HVR1 region, but not the HVR2 region, then you're probably related, but not
for several thousand years. So
genealogically, it's not relevant. If
you match someone on both the HVR1 and HVR2 levels, you may be related in a
genealogical timeframe, especially if you have lots of mutations and match on
all of them. At Family Tree DNA,
you are only matched with people who are 100% matches because mutations occur
infrequently in mitochondrial DNA. Of
course, a mutation can happen in any generation at any time, but in general, if
you don't match exactly, you're not related in a genealogical time frame.
If you match at the
HVR1 level and the other person has not tested at the HVR2 level, perhaps they
would upgrade. If you match at both the HVR1 and HVR2 level and you want to know
for sure if you are a match, you should both upgrade to the full sequence level.
If you match exactly at the full sequence level, then you may well be
related in a genealogical timeframe. Now,
of course, the key is to find your common ancestor.
If your common
ancestor is in a dead end line - you may have to rely on geography and not
genealogy to make the connection. I
always suggest that people compose a one page introduction to their matches and
to contact everyone with whom they share an exact match.
Make your e-mail as easy and straightforward as possible.
The shorter and simpler, the more likely it will be read and you'll get a
response. Here is the table I
recommend using following a short introductory paragraph:
extremely important when tracking mitochondrial DNA because if you match someone
who is in the same area as your ancestor, then you're close to finding your
common ancestor. The records that
may well prove the connection may be located in that geography as well.
Some people are
lucky enough to connect to a surname. Since
they change every generation, the surname will likely be buried in the
information of the other individual. You
should ask them for their info as well, along with the areas where their
sisters and who they married. Your
ancestor's sister may hold the key to your ancestry as well. I generally take my matches' ancestor's names and compare
them to names in my Gedcom file to see what I find.
It's amazing how often I find something close geographically or sometimes
I find their ancestor already listed as a sibling or niece or cousin of one of
my ancestors. That's powerful
Other data bases
hold clues and possible matches as well. You
can enter your DNA information at Sorenson at www.smgf.org.
Sorenson does not facilitate matches with individuals, but they do
provide a genealogy along with the DNA information.
If you find a line you believe you connect to, you can then peruse the
various forums such as www.rootsweb.com
lists and boards and www.genforum.com
boards to find information about that line or someone who connects.
Another resource is
You can upload your information directly from your Family Tree DNA
matches page to Mitosearch. The key here is that you are looking for people who did not
test at Family Tree DNA, as your results are already being compared to those who
did. Sometimes the information
found her for those who you match at Family Tree DNA is important as well, as
participants can enter their oldest ancestor and some additional information not
available through Family Tree DNA directly.
A final resource is
www.ancestry.com. Click on the DNA tab at the top and enter your information.
Unfortunately, Ancestry does a very poor job of both haplogroup
assignment and matching. They show
matches as everyone you match at any mutation.
Once your matches are displayed, click on "table view" and then
click on "download". A
spreadsheet will open, and you can manually sort the match results.
Eliminate all matches that do not match your results exactly.
You will have a small subset remaining, if any.
Use that subset to initiate contacts with those individuals.
To do that at Ancestry, click on the name of the individual, and then
click on "contact" and a message form will appear. You cannot contact them directly, but a message will be sent
to them through Ancestry and they can choose to respond or not.
I always put my own e-mail address in the message hoping they will
contact me directly.
The great thing
about DNA is that even if you don't have any matches today, your DNA is out
there "fishing" for you every day, 24X7.
One day you'll receive a match notification from Family Tree DNA, and you
never know what tidbit of information your match may have that will help one of
your brick walls fall. Be sure to
check the alternate data bases regularly. While
Family Tree DNA notifies participants of matches, the others don't, so check
your matches when you change your smoke detector batteries.
Your ancestor may be waiting for you!
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