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DNA and Genealogy

Discovering Your Native American
Heritage Using Genetic Ancestry Testing

by Ripan S. Malhi, Ph.D and Amy J. Schilling, MS
Trace Genetics, a DNAPrint genomics company

Debra Ann Royer was adopted and grew up wondering about her biological family. People always told her
she looked Native American, but Debra was never able to uncover any information -- until now. Genetic
testing is the most universal and verifiable method for tracing biological ancestry. Where the written record
stops or is unavailable, genetic testing can reveal or confirm biological ancestry. Debra Ann used the Native
American mtDNA test that traces maternal lineage and discovered that her maternal ancestors were Native
Americans that belonged to the Na-Dene language group, most likely either Navajo or Apache.

“It is not easy emotionally to not know where you come from or what your heritage is but now that I know at least part of my ancestry I am hoping the rest will fall into place,” said Royer.

Stories such as Debra’s are not uncommon as the services of genetic testing have become more accessible
to the general public. Most genealogists are familiar with the large number of ongoing genetic surname
projects that are able to confirm familial lineages, but there are also many benefits to genetic testing at the
level of the individual. In most cases, genetic tests strengthen/validate existing historical research, but as
Debra Ann’s case shows, they can sometimes reveal unknown and surprising results that a paper trail may
not expose.

Currently there are three main types of tests that can benefit a genealogical search for Native American
ancestry: mtDNA, Y-chromosome and genome-wide. Each test yields different results. Before you choose
to pursue genetic testing it is important to understand how each test works, what kind of information it can
provide, as well as its informational limitations. This will help you determine if genetic ancestry testing can
enhance your ongoing genealogical research and will help you decide which test will reveal the most
information for what you are looking for. The authors are, respectively, the co-founder and communications
director of Trace Genetics, Inc., a genealogy firm that houses the world’s largest Native American mtDNA
database.

The mitochondrial DNA (mtDNA) test

The mtDNA test traces the ancestry of a person’s direct maternal line (i.e. mother’s mother’s mother)
through analysis of the mitochondrial genome found within every cell in the body. This test can identify a
Native American maternal ancestor that lived dozens to hundreds of generations in the past and the broad
geographic region of origin for that lineage. Mitochondrial DNA is passed from mothers to daughters and
sons. However, in the next generation, only the daughter will pass down the same mitochondrial DNA she
received from her mother. Most mtDNA tests operate by sequencing a portion of the mtDNA genome (400
base pairs of 16,569 total) that is highly informative about ancestry. The mtDNA test cannot be used to
estimate the percentage of Native American ancestry in an individual because the mitochondrial genome
represents approximately 0.0005% of a person’s entire genome. This means, for example, that a person
could have over 90% Native American ancestry but still have a mitochondrial/maternal lineage that is derived
from Europe. Alternatively, an individual could have over 90% European ancestry but still have a Native
American mitochondrial/maternal lineage.

Native American individuals belong to one of five major maternal lineages, called haplogroups: A, B, C, D,
or X. A non-random geographic pattern exists in Native American populations that corresponds with the
identified lineages (A=Arctic/Sub-Arctic, B=West/Southwest, C, X=Northeast, D=West). The mtDNA test
can identify the direct maternal lineage of a person and this maternal lineage is often informative about
geographic ancestry. Frequently asked questions about the Native American mtDNA test include:

1. If a mtDNA test identifies a person as being haplogroup A, B, C, D or X, what does this mean?

Being a member of one of these maternal lineages does not definitively prove that a person has
Native American ancestry because these lineages are found (in low frequencies) in other regions of
the world. However, identifying the lineage to which one belongs can be very useful. Many
individuals wish to distinguish between African, European, and Native American ancestry in their
maternal line. The assignment of an individual’s ancestry to haplogroup A, B, C, D, or X can be
used to support other forms of information about Native American ancestry such as family legends
or written records.

2. Can the Native American mtDNA test tell me what tribe I belong to?

With additional analyses from the mtDNA, haplogroups can be divided into haplotypes, or sub-
lineages within the major lineages, which often allows Trace Genetics to provide tribal matches.
However, while a tribal match provides strong evidence of an ancestral relationship with a specific
Native American tribe, it is not conclusive proof that a person is descendant from that tribe because
historical evidence suggests that Native American populations intermarried with neighboring tribes.
Therefore, it is possible that what appears to be a tribal-specific match may be found in neighboring
populations that are not currently represented in the database. The Trace Genetics Native American
database contains mtDNA sequences from approximately 80 tribes, representing 15% of the tribes
in North America.

The Y-chromosome DNA Test

The Y-chromosome test traces the ancestry of a person’s direct paternal lineage (i.e. father’s father’s father)
and can only be taken by males since only males have the Y chromosome (meaning it is only passed from
fathers to sons). Females who are interested in learning about their paternal lineage can have their father,
brother, paternal uncle or paternal cousin take the test. Similar to the mtDNA test, the Y-chromosome test
identifies the geographic region of origin of your paternal lineage. The region of the Y chromosome
analyzed in this test represents approximately 1.5% of your entire genome and, thus, this test cannot measure
percentage of Native American ancestry. Nearly all Native American individuals belong to Y chromosome
haplogroups/lineages C or Q. The distribution of Y chromosome lineages is much less structured in North
America than the distribution of mtDNA lineages. Broadly, haplogroup C is found in higher frequency in
populations from northern North America and haplogroup Q is common among most Native American
groups. The Y-chromosome database is half the size of the mtDNA database such that less is known about
paternal patterns of geographic or tribal ancestry within North America.

The Autosomal or Genome-wide Test

The autosomal or genome-wide test traces the ancestry of your entire genome (maternal and paternal) and
provides percentage ancestry in broad geographic and linguistic groupings (not races), namely Sub-Saharan
African, East Asian, European, and Native American. It should be noted that the current test offered has
from a 3-12% reported error rate, meaning that any ancestry in these groupings that is below 12% is not
definitive. In addition, levels of ancestry below 3% may not be detected. This test operates by screening
approximately 180 genetic markers that show large frequency differences among the four population samples
comprising the database. The percentage ancestry is a statistical inference determined by comparing an
individual’s DNA to the database. This test is useful as an initial analysis for determining the presence or
absence of Native American ancestry.

In general, genetic testing is not useful on its own to determine which tribe an individual belongs to. A
completely unique “genetic signature” of a tribe is unattainable because tribes interacted extensively with
neighboring groups in prehistory and did not evolve in isolation from one another. Therefore, genetic
markers that evolved in a single tribe were likely transferred to neighboring tribes through intermarriage.
In addition, because these markers develop as a result of infrequent genetic mutations in a population, not
all individuals within a tribe would exhibit tribal-specific markers. Furthermore, the decision as to whether
an individual is part of a tribal community is often based on historical or other non-genetic factors. Native
American tribes use many different factors to justify enrollment in their community such as percentage blood
quantum of that tribe, being a direct descendant of an enrolled member, being born in that tribal community,
and/or having a working knowledge of the culture (language and customs). If a community requires a
minimum percentage of Native American ancestry, DNA-based tests may be able to assist tribal communities
in enrollment by supplying evidence of this ancestry in potential tribal members, but DNA-based tests are
not able to identify percentage ancestry at the tribal level.

Given that the accessibility of genetic testing has increased so dramatically in recent years, it is especially
important to find a firm that is knowledgeable about the uses and limitations of current test options and are
willing to take the time to explain results in a genealogically useful way. Because the field of genetic testing
is also progressing and changing so rapidly, it is important to find a company that keeps up-to-date on the
latest research and has a firm grasp of where genetic ancestry testing is heading. Ask about the background
of the scientists and their ability to provide well-rounded, in-depth interpretations of the results. For
example, the two founders of Trace Genetics have their PhDs in molecular anthropology and focused their
dissertation research on the peopling of the Americas, using both ancient and modern DNA. This
background allows them to not only understand and perform the genetic tests but also gives them the
knowledge to place results in a culturally, historically, and anthropologically relevant context.

Ultimately, if you are considering adding genetic ancestry testing to your Native American research, the best
thing to do is call the various companies and talk with their customer support staff. Customer care personnel
should be able to answer all your questions and be willing to spend as much time as it takes to do so. Genetic
ancestry testing can add a whole new level of detail and dimension to your research and being well-informed
makes it that much more exciting.

For more information contact us at <tracegenetics.com> or toll free at 1-866-731-2312.

Copyright 2005 © Trace Genetics