Popularized in recent
years by its use in high-profile criminal investigations and paternity cases,
DNA, deoxyribonucleic acid, is most commonly used to prove a relationship to an
individual. New tests created in recent years, however, have also turned DNA
into a popular tool for determining ancestry. As DNA is passed down from one
generation to the next, some parts remain almost unchanged, while other parts
change greatly. This creates an unbreakable link between generations and it can
be of great help in reconstructing our family histories.
While it can't provide you with
your entire family tree or tell you who your ancestors are, DNA testing can:
- Determine
if two people are related
- Determine
if two people descend from the same ancestor
- Find out if
you are related to others with the same surname
- Prove or
disprove your family tree research
- Provide
clues about your ethnic origin
DNA tests have been around for
many years, but it is only recently that the cost of genetic testing has finally
come down into the realm of possibility for the average individual interested in
tracing their roots.
Home DNA test
kits can be ordered through the mail or over the Internet at a cost of less than
$300 per test and usually come with a swab or mouthwash to easily collect a
sample of cells from the inside of your mouth. You send back the sample through
the mail and within a month or two you receive the results - a series of numbers
that represent key chemical "markers" within your DNA. These numbers can then be
compared to results from other individuals to help you determine your ancestry.
There are two basic types of DNA
tests available for genealogical testing:
- mtDNA Tests
- Mitochondrial DNA (mtDNA) is contained in the cytoplasm of the cell, rather
than the nucleus. This type of DNA is passed by a mother to both male and
female offspring without any mixing, so your mtDNA is the same as your
mother's mtDNA, which is the same as her mother's mtDNA. mtDNA changes very
slowly so it cannot determine close relationships as well as it can determine
general relatedness. If two people have an exact match in their mtDNA, then
there is a very good chance they share a common maternal ancestor, but it is
hard to determine if this is a recent ancestor or one who lived hundreds of
years ago. It is important to keep in mind with this test that a male's mtDNA
comes only from his mother and is not passed on to his offspring.
Example: The DNA tests that identified the bodies of the Romanovs, the
Russian imperial family, utilized mtDNA from a sample provided by Prince Philip,
who shares the same maternal line from Queen Victoria.
- Y Line
Tests - More recently, the Y chromosome in the nuclear DNA is being used to
establish family ties. The Y chromosomal DNA test (usually referred to as Y
DNA or Y-Line DNA) is only available for males, since the Y chromosome is only
passed down the male line from father to son. Tiny chemical markers on the Y
chromosome create a distinctive pattern, known as a haplotype, that
distinguishes one male lineage from another. Shared markers can indicate
relatedness between two men, though not the exact degree of the relationship.
Y chromosome testing is most often used by individuals with the same last name
to learn if they share a common ancestor.
Example: The DNA tests supporting the probability that Thomas Jefferson
fathered the last child of Sally Hemmings were based on Y-chromosome DNA samples
from male descendants of Thomas Jefferson's paternal uncle, since there were no
surviving male descendants from Jefferson's marriage.
Markers on both mtDNA and Y
chromosome tests can also be used to determine an individual's haplogroup, a
grouping of individuals with the same genetic characteristics. This test may
provide you with interesting information about the deep ancestral lineage of
your paternal and/or maternal lines.
Since
Y-chromosome DNA is found only within the all-male patrilineal line and mtDNA
only provides matches to the all-female matrilineal line, DNA testing is only
applicable to lines going back through two of our eight great-grandparents - our
father's paternal grandfather and our mother's maternal grandmother. If you want
to use DNA to determine ancestry through any of your other six
great-grandparents you will need to convince an aunt, uncle, or cousin who
descends through an all-male or all-female line to provide a DNA sample.
Additionally, since women don't carry the Y-chromosome, their paternal male line
can only be traced through the DNA of a father or brother.
DNA tests can be used by
genealogists to:
- Link
specific individuals - e.g. test to see whether you and a person you think may
be a cousin descend from a common ancestor
- Prove or
disprove the ancestry of people sharing the same last name - e.g.
- Map the
genetic orgins of large population groups - e.g. test to see whether you have
European or African American ancestry
What is your goal?
To best use DNA testing to learn about your ancestry you should start by
narrowing down a question you are trying to answer and then select the people to
test based on the question. For example, you may wish to know if the Tennessee
CRISP families are related to the North Carolina CRISP families. To answer this
question with DNA testing, you would then need to select several male CRISP
descendants from each of the lines and compare the results of their DNA tests. A
match would prove that the two lines descend from a common ancestor, though
would not be able to determine which ancestor. The common ancestor could be
their father, or it could be a male from over a thousand years ago. This common
ancestor can be further narrowed down by testing additional people and/or
additional markers.
Most Recent Common Ancestor (MRCA)
When you submit a DNA sample for testing an exact match in the results between
you and another individual indicates that you share a common ancestor somewhere
back in your family tree. This ancestor is referred to as your Most Recent
Common Ancestor or MRCA. The results on their own will not be able to
indicate who this specific ancestor is, but may be able to help you narrow it
down to within a few generations.
What can be learnt from the
results?
An individual's DNA test provides little information on its own. It is not
possible to take these numbers, plug them into a formula, and find out who your
ancestors are. The marker numbers provided in your DNA test results only begin
to take on genealogical significance when you compare your results with other
people and population studies. If you don't have a group of potential relatives
interested in pursuing DNA testing with you, your only real option is to input
your DNA test results into the many DNA databases starting to spring up on the
Net, in the hopes of finding a match with someone who has already been tested.
Many DNA testing companies will also let you know if your DNA markers are a
match with other results in their database, provided that both you and the other
individual have given written permission to release these results.
Understanding
the Results of Your Y-Chromosome DNA Test (Y-Line):
Your DNA sample will be tested at a number of different data points called
loci or markers and analyzed for the number of repeats at each of
those locations. These repeats are known as STRs (Short Tandem Repeats). These
special markers are given names like DYS391 or DYS455. Each of the numbers that
you get back in your Y-chromosome test result refers to how many times a pattern
is repeated at one of those markers. The number of repeats is referred to by
geneticists as the alleles of a marker.
What is the effect of adding
more markers?
Adding additional markers increases the precision of DNA test results, providing
a greater degree of probability that a MRCA (most recent common ancestor) can be
identified within a lower number of generations.
For example,
if two individuals match exactly at all loci in a 12 marker test, there is a 50%
probability of a MRCA within the last 14 generations. If they exactly match at
all loci in a 21 marker test, there is a 50% probability of a MRCA within the
last 8 generations. There is a fairly dramatic improvement in going from 12 to
21 markers but, after that point, the precision starts to level off making the
expense of testing additional markers less useful.
Understanding the Results of
Your Mitochondrial DNA Test (mtDNA):
Your mtDNA will be tested on a sequence of two separate regions on your mtDNA
inherited from your mother. The first region is called Hyper-Variable Region 1
(HVR-1 or HVS-I) and sequences 470 nucleotides (positions 16100 through 16569).
The second region is called Hyper-Variable Region 2 (HVR-2 or HVS-II) and
sequences 290 nucleotides (positions 1 though 290). This DNA sequence is then
compared to a reference sequence, the Cambridge Reference Sequence, and any
differences are reported.
The two most interesting uses of
mtDNA sequences are comparing your results with others and determining your
haplogroup. An exact match between two individuals indicates that they share a
common ancestor, but because mtDNA mutates extremely slowly this common ancestor
could have lived thousands of years ago. Matches which are similar are further
classified into broad groups, known as haplogroups. A mtDNA test will provide
you with information about your specific haplogroup which may provide
information on distant family origins and ethnic backgrounds.
Organizing a DNA Surname
Study
If you're like
me and have spent many years corresponding and working with fellow researchers
in an attempt to prove surname connections, it may have crossed your mind that a
DNA Surname Study could help to fill in some of the missing holes.
The best way of organizing and
managing a DNA Surname Study is very much a matter of personal preference. There
are, however, several basic goals which need to be met:
- Create a
Working Hypothesis - A DNA Surname Study is not likely to provide any
meaningful results unless you first determine what you are trying to
accomplish for your family surname. Your goal can be very broad (how are all
the CRISP families in the world related) or very specific (do the CRISP
families of eastern NC all descend from William CRISP).
- Choose a
Testing Center - Once you've determined your goal you should have a better
idea of what type of DNA testing services you will require.
- Recruite
Participants - If you are already working together with a group of people on a
particular surname then you may find it relatively easy to recruit
participants from the group for a DNA Surname Study. If you have not been in
touch with other researchers of your surname, however, you will need to track
down several established lineages for your surname and obtain participants
from each of these lines. Outside of direct contact, you may wish to turn to
surname mailing lists and family organizations to promote your DNA Surname
Study. Creating a Web site with information about your DNA Surname Study is
also an excellent method for attracting participants. As you correspond with
potential participants, remember that DNA is a very personal subject, and you
will need to be prepared to answer many questions. Education is the key to
acceptance.
- Manage the
Project - Managing a DNA Surname Study is a big job. The key to success is in
organizing the project in an efficient manner and keeping participants
informed of progress and results. Creating and maintaining a Web site or
mailing list specifically for project participants can be of great assistance.
As mentioned above, some DNA testing labs will also provide assistance with
organizing and managing your DNA surname project. It should go without saying,
but it is also important to honor any privacy restrictions made by your
participants.
The best way to figure out what
works is to look at examples of other DNA Surname Studies. Here are several to
get you started:
In conclusion, it is vitally
important to keep in mind that DNA testing for the purposes of proving ancestry
is NOT a substitute for traditional family history research. Instead, it is a
tool to be used in conjunction with family history research to aid in proving or
disproving suspected family relationships. It is definitely an exciting new tool
to add to your genealogy toolbox!
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