My Genetic Genealogy - Freepages

Transcription

My Genetic Genealogy - Freepages
My Genetic Genealogy
Genetic Genealogy Basics
Genetic Genealogy is a relatively new field that uses genetics or DNA tests to supplement traditional
genealogical research. While DNA tests can enable people who closely match to share their family research, it
can also serve to eliminate lines that don't match.
A genealogical time frame is usually thought of as the last 600-800 years during which surnames have been in
use as we know them today. Ancestral times normally refer to those thousands of earlier years during which
humans evolved and migrated across the globe.
DNA itself abides some very strict rules and normally people think of DNA as a science that proves an exact
match of some sort. However, DNA as applied to genealogy depends on mutations to predict the closeness of
relationships between people who have taken a DNA test. A simple goal might be to find a close DNA match that
knows more about their ancestry than you know about yours.
There are four types of DNA that can be useful in genealogy and ancestral research; yDNA, mtDNA, autosomal
DNA and xDNA.
Our cells consist of 23 DNA chromosomes. Autosomal DNA is derived from the 1st 22 chromosomes. yDNA and
xDNA comes from the 23rd chromosome also known as the sex chromosome and consists of either a X-Y pair for
a male or a X-X pair for a female. mtDNA is derived from other genetic material outside the chromosomes.
Autosomal DNA is passed down to a descendant in roughly equal proportions from all our ancestors. For
example, each of us has 1024 8th great-grandparents. Therefore 1/1024th of my autosomal DNA came from each
of them. I may be an Allen, but only 1/1024th of my autosomal DNA is from my Allen line.
On the other hand, 100% of my yDNA is Allen because of the way it is passed from father to son generation after
generation going back 10’s of thousands of years.
Likewise, 100% of my mtDNA has been passed down from mother to daughter generation after generation going
back 10’s of thousands of years. However, I cannot pass it to the next generation. Only my sister can pass
mtDNA on.
Each of these types provides a unique basis for research because of the way it is passed from generation to
generation and will be discussed separately.
1.) yDNA
Traditional genealogy focuses on tracing a surname back through generations of ancestors. yDNA is unique in
that a father passes his yDNA "virtually" unchanged on to his sons but not his daughters. As a result, women do
not carry yDNA. Adding to this uniqueness is the fact that sons have traditionally taken their father's surname, at
least the past 600-800 years. yDNA then becomes a great tool for tracing a male's surname.
In terms of a pedigree chart, it may be helpful to think of yDNA as the outer most male for each generation.
We say "virtually" unchanged because mutations fortunately do occur on occasion. If there were no mutations,
DNA would be of little value to genealogical research, because everyone would match each other.
There are two types of yDNA testing; STRs and SNPs. At present there are up to 111 yDNA STRs or markers that
can be tested for a male. These are generally sold as packages. For example, Family Tree DNA has offered 12
marker, 25 marker, 37 marker, 67 marker and 111 marker tests. The more markers tested the higher the cost,
but the more meaningful the results.
Generally speaking an exact match between two males on the 1st 12 markers implies a common ancestor in the
last 600-800 years or since the standardization of modern surnames. That information was very helpful
eliminating other Allens, in my case, from further research.
In the case of matching markers, it is all about probability odds. For example, an exact match on the 1st 12
markers yields a 90% probability that the two individuals share a common ancestor within the last 24
generations. Assuming 25 years per generation, that would be 600 years.
An exact match on the 1st 37 markers offers a 90% probability those two individuals share a common ancestor
within the last 5 generations, while an exact match on the 1st 67 markers offers a 90% probability the two
individuals share a common ancestor within the last 4 generations.
With a common name like Allen, a handful of other surnames may be included as exact matches. There could be
several reasons. There may have been non-parental events (NPE) in the past. This is more likely on exact 37 or
67 marker matches. On the other hand, exact 12 marker matches between different surnames could mean a
common ancestor just before surnames became standardized.
Each yDNA STR marker has been given a name or alleles such as DYS393 or Y-GATA-A10. The test result for each
marker consists of a count or number usually ranging from something like 7 to 35. I have taken a 111 marker
yDNA STR test with FTDNA and a 46 marker test with Ancestry.com. More on this when we discuss my results.
yDNA SNPs can be thought of as a refinement or more detailed view of yDNA. FTDNA refers to them as
advanced tests. As an example, a 37 marker yDNA STR test can "predict" a male's haplogroup; R1b for me. A
specific SNP test for a positive U106 SNP confirmed I belong to the R1b U106 haplogroup.
Haplogroups are ancestral divisions or groupings of modern humans, i.e., homo sapiens as they migrated out of
Africa. The U106 haplogroup is believed to be the result of a mutation 1,800 to 3,700 years ago in northern
Germany. This haplogroup was one of several Germanic tribes that migrated to the British Isles around 400 A.D.
More on this in its own discussion.
2.) mtDNA
mtDNA became better known after Bryan Sykes published Seven Daughters of Eve. His book was the
culmination of extensive research that showed every living person of European ancestry descends from one of
seven women who lived several thousand years ago. Each would have been a daughter of a mitochondrial Eve
who lived in Africa 150,000 - 200,000 years ago.
These seven women were not the only women alive at that time, but they were the only ones to have
descendants still living today. Sykes named them Ursula, Xenia, Helena, Velda, Tara, Katrine and Jasmine. Ulrike
was added later with just under a 2% modern representation.
My DNA tests show I descend from the clan of Helena or Haplogroup H, which began about 20,000 years ago
somewhere in the valleys of the Dordogne and the Vezere, in south-central France.
If yDNA can be thought of as the outer most male for each generation in a pedigree chart, then mtDNA can be
thought of as the outer most female for each generation.
A woman passes her mtDNA on to both her sons and daughters. But since sons cannot pass their mtDNA on,
their mtDNA ends with them. As a result, mtDNA tracks back through a person's mother's mother's mother,
generation after generation.
mtDNA is more of an anthropological test than genealogical. This is because it mutates very slowly. A person's
ancestor from thousands of years ago may show almost exactly the same mtDNA. As far as genealogy, mtDNA
actually works best at disproving a relationship between two people.
3.) Autosomal-DNA
Autosomal-DNA is derived from a person's first 22 chromosomes. These are passed on from a person's ancestors
in roughly equal proportions. For example, referencing the chart below, each person has eight greatgrandparents. Each contributes approximately 12.5% of a person's first 22 chromosomes.
In terms of genealogy, autosomal-DNA percentages become too small to be very meaningful out past a person's
great-great-grandparents. They do become useful in determining a person's composite deeper ancestry out in
the range of thousands of years. On a different note, it is autosomal-DNA that can indicate a person's health
risks and variants related to medical conditions and diseases.
4.) xDNA
xDNA has largely been ignored until recently as a supplement to genetic genealogy, even though xDNA results
have been included along with autosomal DNA results with companies that offer those tests. This was mainly
due to the lack of tools to analyze and compare xDNA results across populations.
It should be noted that xDNA tracks differently for a female than a male. Without getting into all the differences,
suffice it to say a father does pass his xDNA on to his daughters, therefore, unlike a male, a female will have
xDNA from both her paternal and maternal sides.
My DNA Results
Each company offering genealogy and ancestral type DNA tests displays their findings in a little different
manner. Results are generally shown in a simplified manner that are easy to comprehend with only a basic
understanding of DNA.
Each company also offers a raw data download for those wishing to see the detail behind the charts. There are
also a number of free software tools available that can open the raw data and perform more specialized
functions on it.
In addition to a person's results, each company also provides comparisons to other results in their database of
hundreds of thousands others who have tested. This results in DNA matches that can offer genealogical clues
and will be discussed in a separate section on this web site.
There are also a number of smaller public databases such as Y-search, SMGF and GenBank that a person can use
to compare their own results.
I have tested with National Geographics Geno 2.0, 23andMe, Ancestry.com and Family Tree DNA. What follows
is a discussion of my test results by each company.
1.) Geno 2.0 (My ID: NGR3Q7ZVN3)
National Geographic's Geno 2.0 test targets a person's deep ancestry, as in thousands of years ago. There are
three elements to their displayed results; Maternal Line, Who Am I and Paternal Line. The Geno 2.0 test did this
by analyzing 12,065 yDNA SNPs, 126,307 autosomal SNPs, 3,803 xDNA SNPs and 3,281 mtDNA SNPs within my
DNA.
This test does not analyze any yDNA STRs which track to a male surname and are the primary tool of genetic
genealogists. That's because the Geno 2.0 test is not about genealogy. It's about deep ancestry.
Maternal Line
Geno 2.0 reports my maternal line as H27, which is a downstream subclade of the H haplogroup. This
determination came from mtDNA portion of my test.
This the haplogroup Bryan Sykes named Helena, which he believed originated somewhere in the valleys of the
Dordogne and the Vezere, in south-central France about 20,000 years ago. According to Sykes, Eve, the mother
of her "Seven Daughters", lived approximately 175,000 years ago in Africa.
The Dordogne and Vezere valley is home to some of the oldest Cro-Magnon cave art. Genetic analysis of a
33,000 year old skeleton from South Wales, United Kingdon also yielded mtDNA haplogroup H. The H27
subclade of haplogroup H would have separated (mutated) a few thousand years more recently.
This map shows my mtDNA proceeded out of Africa up through the Arabian peninsula then between the Black
Sea and Caspian Sea before moving across Europe.
As noted under DNA Basics, mtDNA haplogroups use some of the same letter names as yDNA haplogroups but
have nothing in common.
My Geno 2.0 report says
"The common direct maternal ancestor to all women alive today was born in East Africa around 180,000
years ago. Though not the only woman alive at the time, hers is the only line to survive into current
generations. From East Africa, groups containing this lineage spread across Africa. Between 60 and 70
thousand years ago, some groups moved from Africa to Asia. Your line traces to one of these groups.
Your ancestors first settled West Asia. From there, they expanded toward the Levant region and toward
Europe. Some lines traveled to South Asia."
Who Am I
This section of my Geno 2.0 report compares my autosomal DNA results to reference populations and shows any
percentage above 2%. My results show 42% Northern European, 38% Mediterranean, 18% Southwest Asian and
20% Native American. Other than the 2% Native American, my results are fairly typical for anyone of European
descent.
According to National Geographic a 2-3% Native American deep ancestry probably reflects the origin of Native
Americans prior to crossing the Bering Strait into North American. This seems reasonable since the Geno 2.0
DNA test is supposed to focus on a distance of 10,000 or more years ago, as opposed to more recent times.
Current thinking is that Native Americans originated from the same Central Asia region as my yDNA haplogroup
R (M207) 30,00 years ago.
This section also reports a percent of Neanderthal and Denisovan autosomal DNA. These were just two of
several other hominoid species living at the same time as homo sapiens. Most persons of European descent
show 2-3% Neanderthal DNA. Denisovan is more common in present day east Asians. My results show 1.4%
Neanderthal and 0.0% Denisovan.
Paternal Line
My paternal line is reported as the R-U106 haplogroup. This result was derived from the yDNA SNP portion of
my Geno 2.0 test. The R or M207 haplogroup originated about 30,000 years ago in Central Asia. It was a
separation or mutation from earlier lines extending back to Africa.
We should note that M207 designates a positive SNP that identifies the R haplogroup, while U106 is another
SNP that if positive identifies a subclade of the R haplogroup known as R1b1a2a1a1a*.
The U106 subclade originated more recently possibly in the northern area of Germany 1,700 to 3,500 years ago
as the R haplogroup spread across Europe. U106 was one of several Germanic tribes that migrated into the
British Isles around 400 A.D. during the decline of the Roman Empire.
Interestingly the migration of my R yDNA haplogroup tracks to the east of the Caspian Sea before traversing
across Europe in a path similar to my mtDNA H haplogroup.
Here's what National Geographic has to say about my paternal line.
"The common direct paternal ancestor of all men alive today was born in Africa around 140,000 years
ago. He was neither the first human male nor the only male alive in his time. He was the only male
whose direct lineage is present in current generations. Most men, including your direct paternal
ancestors, trace their ancestry to one of this man’s descendants. Your branch of this lineage took part in
out-of-Africa migrations. Your ancestors traveled to West Asia where they lived by hunting wildlife and
gathering wild fruits and berries. Over time, groups containing this branch spread west toward Europe
and east to Central Asia, then south into the Levant region."
In Summary National Geographic's Geno 2.0 test reports my mtDNA haplogroup is H27, my yDNA haplogroup is
R-U106 and that I am 42% Northern European, 38% Mediterranean, 18% Southwest Asian, 2% Native American
and 1.4% Neanderthal.
2.) 23andMe (My ID: moallen)
My wife and I both tested with 23andMe. Their DNA test is similar to National Geographic's in that yDNA, xDNA,
mtDNA and autosomal DNA SNPs are tested. 23andMe analyzes 1,766 Y SNPs, 967,000 autosomal SNPs, 26,087
X SNPs and 2,737 mt SNPs. Like the National Geographic DNA test, 23andMe does not test any yDNA STRs.
23andMe's focus is clearly on autosomal SNPs with nearly a million SNPs analyzed. That is because 23andMe
also reports on health risks and variants. Autosomal SNPs reside with chromosomes 1 through 22 which, other
than sex, determine everything unique about us.
Their Ancestry results is broken down into Ancestry Composition, Maternal Line, Paternal Line, Neanderthal
Ancestry and DNA Relatives. We'll cover DNA Relatives later under My DNA Matches.
Ancestry Composition
23andMe reports this a little differently than National Geographic. In fact 23andMe's target time period is in the
range of 500 years rather than 10,000 years like National Geographic. Their focus is on the time period just
before world-wide travel changed migration patterns.
23andMe compared my DNA to 31 worldwide populations to arrive at my results for ancestry composition, and
as one can see these results are somewhat different than National Geographic's analysis. We have to assume
this is because of the difference in target time periods. The period between 10,000 and 500 years ago involved
gradual but massive migrations westward across Europe. As expected, a target of 500 years ago shows no Native
American ancestry.
23andMe derived these percentages by analyzing my 1 - 22 chromosomes plus my X chromosome. They provide
a chromosome view showing which chromosome links to each population percentage. For example, my Middle
Eastern and North African ancestry came out of chromosome 1, and my Sub-Saharan African came out of
chromosome 3.
Maternal Line
23andMe also reported H for my maternal haplogroup, which was a result of testing my mtDNA SNPs. Here is an
extract from their history of my maternal H haplogroup.
"Haplogroup H dominates in Europe, reaching peak concentrations along the Atlantic coast. It is also common in
many parts of the Near East and Caucasus Mountains, where the haplogroup can reach levels of 50% in some
populations. H originated about 40,000 years ago in the Near East, where favorable climate conditions allowed it
to flourish.
About 10,000 years later it spread westward all the way to the Atlantic coast and east into central Asia as far as
the Altay Mountains. About 21,000 years ago an intensification of Ice Age conditions blanketed much of Eurasia
with mile-thick glaciers and squeezed people into a handful of ice-free refuges in Iberia, Italy, the Balkans and
the Caucasus. Several branches of haplogroup H arose during that time, and after the glaciers began receding
about 15,000 years ago most of them played a prominent role in the repopulation of the continent.
H1 and H3 expanded dramatically from the Iberian Peninsula, along the Atlantic coast and into central and
northern Europe. Other branches, such as H5a and H13a1, expanded from the Near East into southern Europe.
After a 1,000-year return to Ice Age conditions about 12,000 years ago, yet another migration carried
haplogroup H4 from the Near East northward into Russia and eastern Europe.
Haplogroup H achieved an even wider distribution later one with the spread of agriculture and the rise of
organized military campaigns. It is now found throughout Europe and at lower levels in Asia, reaching as far
south as Arabia and eastward to the western fringes of Siberia."
Paternal Line
My paternal haplogroup was reported as R1b1b2a1a1*, which was determined by a positive U106 SNP in my
yDNA SNPs. This matches National Geographic's analysis. Here is an extract from my paternal report.
"Haplogroup R is a widespread and diverse branch of the Y-chromosome tree that is extremely common
in Europe, where it spread after the end of the Ice Age about 12,000 years ago. The haplogroup appears
to have originated in southwestern Asia about 30,000 years ago. It then split into two main branches. R1
ultimately spread widely across Eurasia, from Iceland to Japan, whereas R2 mostly remained near its
region of origin. Today it can be found in southwestern Asia and India.
Because of recent immigration, both branches of R are now found worldwide among men of European, Middle
Eastern and South Asian descent – though our haplogroup maps indicate only their pre-colonial distributions.
Haplogroup R1 is the dominant haplogroup in Europe today, accounting for well over half of all men. After being
confined to the continent's southern fringes during the Ice Age, it expanded rapidly in the wake of the receding
glaciers about 12,000 years ago. Various branches of R1 also trace the many migrations that have shaped Europe
since then, from the arrival of farmers between about 10,000 and 7,000 years ago to the movements of ethnic
groups such as the Anglo-Saxons and Vikings.
Haplogroup R1b was confined during the Ice Age to pockets of territory in Mediterranean Europe. The largest
was in the Iberian peninsula and southern France, where men bearing the haplogroup created the famous cave
paintings at Lascaux and Altamira. They also hunted mammoth, bison and other large game in a climate that was
more like present-day Siberia's than the mild conditions prevailing in southern Europe today.
Some men bearing R1b Y-chromosomes also seem to have spent the Ice Age in the Balkans and Anatolia, where
the haplogroup is still present today.
After the Ice Age, the haplogroup expanded rapidly in the wake of the retreating glaciers. Today R1b is by far the
most common haplogroup in the western half of the continent.
R1b1a2 is the most common haplogroup in western Europe, where it is found in more than 50% of men. Ancient
representatives of the haplogroup were among the first people to repopulate the western part of Europe after
the Ice Age ended about 12,000 years ago. In the process the haplogroup differentiated into even more distinct
groups that can trace the details of the post-Ice Age migrations.
Today R1b1a2a1a1 is found mostly on the fringes of the North Sea in England, Germany and the Netherlands,
where it reaches levels of one-third. That distribution suggests that some of the first men to bear the
haplogroup in their Y-chromosomes were residents of Doggerland, a real-life Atlantis that was swallowed up by
rising seas in the millennia following the Ice Age.
Doggerland was a low-lying region of forests and wetlands that must have been rich in game; today, fishing
trawlers in the North Sea occasionally dredge up the bones and tusks of the mastodons that roamed there.
Doggerland had its heyday between about 12,000 years ago, when the Ice Age climate began to ameliorate, and
9,000 years ago, when the meltwaters of the gradually retreating glaciers caused sea levels to rise, drowning the
hunter's paradise. Doggerland's inhabitants retreated to the higher ground that is now the North Sea coast."
Neanderthal Ancestry
23andMe reports my Neanderthal percentage is 2.8%, which is a little higher than National Geographic's 1.4%.
This analysis is regarded as somewhat experimental and is still developing. The complete Neanderthal genome
was only sequenced in 2010. Here is an extract from my report.
"Neanderthals were a group of humans who lived in Europe and Western Asia. They are the closest
evolutionary relatives of modern humans, but they went extinct about 30,000 years ago. The first
Neanderthals arrived in Europe as early as 600,000 to 350,000 years ago. Neanderthals — Homo
neanderthalensis — and modern humans — Homo sapiens — lived along side each other for thousands
of years. Genetic evidence suggest that they interbred and although Neanderthals disappeared about
30,000 years ago, traces of their DNA — between 1 percent and 4 percent — are found in all modern
humans outside of Africa."
In Summary, 23andMe's test reports my mtDNA haplogroup is H, my yDNA haplogroup is R1b1b2a1a1* aka
U106 and that I am 99.1% European, .2% Middle Eastern and Northern African, .1% Sub-Saharan African, .7%
Unassigned and 2.8% Neanderthal.
3.) Family Tree DNA (My ID: 97507)
This was the 1st DNA test I took, and it was back in 2007. It was a 37 marker yDNA test, which I later upgraded to
67 markers and then 111 markers this past year. Today's mtDNA and autosomal DNA tests were not that
popular or available in 2007. But even now yDNA STR DNA tests remain the best test for genealogical purposes.
That's because yDNA is only passed from father to son just like surnames. Plus yDNA also mutates just often
enough to be of value during a genealogically significant time frame or 600-800 years.
The first part of this section will discuss my yDNA STR results. The 2nd section will take a look at several
advanced yDNA STR and SNP tests.
FTDNA offers the ability to upload National Geographic's Geno 2.0 rawdata, as well as 23andMe's rawdata. In
the last section of my FTDNA results, we'll look at FTDNA's analysis of my test results from those other
companies.
yDNA STRs
Within DNA Basics we mentioned up to 111 markers called alleles can be tested, and they have such names as
DYS393 and Y-GATA-A10.
The exact markers chosen by geneticists are designed to balance fast changing and slow moving markers to
arrive at a meaningful number of mutations or steps within a genealogical time period, that is since surnames
became common.
These are my 1st 12 markers. Any male who matches me on their
1st 12 markers has a 90% probability of sharing a common
ancestor within the last 24 generations.
Restricting matches to the same surname becomes an effective
genealogical tool. Including other surnames can also be interesting
from the standpoint of a common ancestor just prior to surnames.
One table shows the following mutation rates in terms of
generations for the first 12 markers: DYS393 (53), DYS390 (13),
DYS19 (26), DYS391 (15), DYS385 (18), DYS426 (444), DYS388 (182), DYS439 (8), DYS389i (22), DYS392 (77) and
DYS389ii (17).
Some of these markers only mutate on average in thousands of years. For example, DYS388 at 182 generations
would be every 4,545 years using 25 years per generation. Hence, two people with different DYS388 markers are
not likely to share a common male ancestor in nearly 5,000 years.
Taking these 12 markers as a group results in a 90% probability of sharing a common male ancestor in the last 24
generations or 600 to 800 years depending on number of years per generation.
It should be noted that averages are just averages. It is always “possible” for a mutation to happen anytime,
anywhere. Perhaps even more importantly, different haplogroups seem to mutate at different rates.
My 13 - 37 markers are shown to the right. An exact match with
someone on markers 1 - 37 results in a 90% probability of sharing a
common male ancestor within the last 5 generations.
Factoring in the number of generations known to not include the
common ancestor moves the common male ancestor farther out in
terms of generations. This is an important point and emphasizes
the need to combine genetics (DNA) with traditional genealogy.
An exact match with someone on my 1 - 67 markers indicates a
90% probability we share a common male ancestor within the last
4 generations, without considering any other factors such as
known genealogy.
A practical example would be my known 5th cousin FTDNA
#126930. He and I differ by 1 step (mutation). Our common male
ancestor is John Allen my 5th great-grandfather.
Counting going out to John Allen and coming back to 126930, we
are 13 DNA generations apart. Using an average mutation rate of
.002 and a formula of (generations) x (.002) x (number of markers),
we could expect on average 2 steps or mutations between us. This
example of 1 step fits well within expected results.
And finally my 68 - 111 markers.
Only two of us in FTDNA’s R1b (Edward Allen) Subgroup c have
tested to 111 yDNA markers; me and #284914.
This example gives us a chance to see how known genealogy
affects our common male ancestor predictions. Using FTDNA’s
default TIP parameters, shows an 80% probability of sharing a
common male ancestor within 12 generations and 95% within 16
generations between me and #284914.
Changing the parameters to reflect we know we do not share a
MRCA within the last 8 generations changes 12 generations to 71%
and 16 generations to 93%.
Further changing the parameters to reflect we do not share a
MRCA within the last 10 generations, which seems more likely
based on traditional genealogy, changes 12 generations to 57%
and 16 generations to 90%.
16 generations at 30 years per generation would suggest a MRCA
born circa 1470. Such a person could be Edward Allen’s (Ipwich,
MA) great-great-grandfather.
One might wonder what constitutes a suitable probability
percentage; 50%, 80%, 90%? Of course, there is no right or wrong
answer other than expectations. Ancestry.com uses a 50%
probability factor showing their matches. After all, 50% indicates
even odds, that is, it is just as likely as unlikely.
yDNA Advanced STR Tests
I have taken several advanced STR tests with FTDNA mainly to clarify a few unusual STR results:
DYF371X this test was taken in Sept. 2013 to determine the reason for a Null value for DYS425, which was one of
the markers within my standard 37 marker yDNA STR test taken in Sept. 2007.
Several of us who match in our Allen yDNA project R1b-c subgroup decided to take this test after it was
observed all of us in our R1bc subgroup reported a Null for DYS425 and that it is a relatively rare result in the
R1b haplogroup with only 1% reporting this mutation.
The reason for the Null result are somewhat technical and not necessarily important. What is important is this
mutation is not shared by any other Allen subgroups in the project, which further shows our subgroup of Allens
are not related to any other Allens tested so far.
The DYS464X advanced STR test was taken in Sept. 2013 to show the true order my DYS464's results of 15 16 17
18. This was another standard STR marker within the standard yDNA STR marker test I took in 2007.
The advanced test results came back as 15c 16c 17c and is being re-reviewed.
The DYS385 a/b Kittler (K) advanced STR test was taken in Sept. 2013 to show the true order of my DYS385 of
11/14 and came back as 14-11.
National Geographic Geno 2.0 upload to FTDNA
This upload mainly confirmed my yDNA haplogroup was R1b1a2a1a1a* based on a positive U106 SNP. FTDNA
had "predicted" my haplogroup would be R1b1a2 based on several indicators with my standard yDNA STR
results, but that was not the proof needed to join a U106 project.
I had wanted to join the U106 project because it would narrow down my huge R1b haplogroup to a smaller set
of matches. We'll talk more about the U106 project in a later section.
The sequence of positive SNPs that take me from our common African ancestor (the ancestor of all people living
today) downstream to U106 are: M42 > M168 > M89 > M9 > M45 > M207 > M343 (R1b) > P25 > P297 > M269
(R1b1a2) >L23 > L51 > L11 > U106 aka S21 or M405.
Haplogroup: R1b1a2a1a1a*
RSID: rs16981293
Position: 8856078
These are all the SNPs that I tested positive on my Geno 2.0 test imported to FTDNA.
CTS10168+, CTS10362+, CTS10834+, CTS109+, CTS11358+, CTS11468+, CTS11575+, CTS11726+, CTS11985+,
CTS12478+, CTS125+, CTS12632+, CTS1996+, CTS2134+, CTS2664+, CTS3063+, CTS3135+, CTS3331+, CTS3358+,
CTS3431+, CTS3536+, CTS3575+, CTS3654+, CTS3662+, CTS3868+, CTS3996+, CTS4244+, CTS4364+, CTS4368+,
CTS4437+, CTS4443+, CTS4740+, CTS5318+, CTS5457+, CTS5532+, CTS5577+, CTS5884+, CTS6135+, CTS623+,
CTS6383+, CTS6800+, CTS6907+, CTS7400+, CTS7659+, CTS7922+, CTS7933+, CTS8243+, CTS8591+, CTS8665+,
CTS8728+, CTS8980+, CTS9828+, F1046+, F115+, F1209+, F1302+, F1320+, F1329+, F1704+, F1714+, F1753+,
F1767+, F1794+, F180+, F2048+, F2075+, F211+, F212+, F2142+, F2155+, F2302+, F2402+, F2587+, F2688+,
F2710+, F2837+, F29+, F295+, F2985+, F2993+, F3111+, F313+, F3136+, F33+, F332+, F3335+, F344+, F3556+,
F356+, F359+, F3692+, F378+, F4+, F47+, F506+, F556+, F63+, F640+, F647+, F652+, F671+, F719+, F82+, F83+,
F93+, L11+, L132+, L15+, L150+, L151+, L16+, L23+, L265+, L278+, L350+, L388+, L389+, L407+, L468+, L470+,
L471+, L478+, L482+, L483+, L498+, L500+, L502+, L506+, L51+, L52+, L566+, L585+, L721+, L747+, L752+, L754+,
L761+, L768+, L773+, L774+, L779+, L781+, L82+, M139+, M168+, M207+, M235+, M294+, M343+, M415+,
M42+, M45+, M526+, M89+, M94+, P128+, P131+, P132+, P135+, P136+, P138+, P14+, P141+, P145+, P146+,
P148+, P151+, P158+, P159+, P160+, P166+, P187+, P207+, P225+, P226+, P228+, P229+, P230+, P232+, P233+,
P235+, P236+, P237+, P238+, P240+, P242+, P243+, P244+, P245+, P280+, P281+, P282+, P283+, P284+, P285+,
P286+, P295+, P297+, P310+, PAGES00083+, PF1016+, PF1029+, PF1031+, PF1040+, PF1046+, PF1061+,
PF1092+, PF1097+, PF110+, PF1203+, PF1269+, PF1276+, PF15+, PF192+, PF210+, PF212+, PF223+, PF234+,
PF258+, PF2591+, PF2593+, PF2599+, PF2600+, PF2608+, PF2611+, PF2615+, PF2624+, PF263+, PF2631+,
PF2643+, PF272+, PF2745+, PF2747+, PF2748+, PF2749+, PF2770+, PF278+, PF292+, PF316+, PF325+, PF342+,
PF500+, PF5465+, PF5466+, PF5468+, PF5471+, PF5851+, PF5853+, PF5854+, PF5865+, PF5869+, PF5871+,
PF5882+, PF5886+, PF5887+, PF5888+, PF5953+, PF5956+, PF5957+, PF5964+, PF5965+, PF5982+, PF6007+,
PF6063+, PF6091+, PF6145+, PF6246+, PF6249+, PF6250+, PF6263+, PF6265+, PF6270+, PF6271+, PF6272+,
PF6404+, PF6409+, PF6411+, PF6424+, PF6425+, PF6430+, PF6432+, PF6434+, PF6438+, PF6443+, PF6463+,
PF6494+, PF6495+, PF6498+, PF6500+, PF6506+, PF6507+, PF6509+, PF6524+, PF667+, PF719+, PF720+, PF725+,
PF779+, PF796+, PF803+, PF815+, PF821+, PF840+, PF844+, PF892+, PF937+, PF951+, PF954+, PF970+, s10+, s3+,
U106+, V186+, V189+, V205+, V52+, V9+, YSC0000067+, YSC0000072+, YSC0000075+, YSC0000082+,
YSC0000166+, YSC0000176+, YSC0000179+, YSC0000182+, YSC0000186+, YSC0000191+, YSC0000194+,
YSC0000201+, YSC0000203+, YSC0000205+, YSC0000207+, YSC0000213+, YSC0000219+, YSC0000224+,
YSC0000225+, YSC0000227+, YSC0000230+, YSC0000232+, YSC0000233+, YSC0000251+, YSC0000269+,
YSC0000270+, YSC0000279+, YSC0000288+, YSC0000294+
23andMe Upload to FTDNA
FTDNA offers a FamilyFinder DNA test based on autosomal DNA results. This test provides cousin type matches
to others in FTDNA's autosomal database. They also offer for a fee the ability to upload 23andMe autosomal
results to their FamilyFinder database. This supplemented my 23andMe 991 autosomal cousin matches with
more than 500 additional 2nd through distant cousin matches and will be discussed later within My DNA
Matches.
4.) Ancestry (My ID: Marvin Allen)
I took my yDNA 46 Marker STR test with Ancestry.com about a year after testing with FTDNA. Although the
order Ancestry displays their 46 markers is a little different that FTDNA, all 46 markers are tested somewhere
within FTDNA's 111 marker test.
Four of Ancestry's markers have to be adjusted to conform to FTDNA's methodology. Y-GATA-H4 must be
decreased by 1, DYS442 decreasedby 5, Y-GATA-A10 decreased by 2 and DYS441 decreased by 1. Once that is
done, all 46 of the markers tested by Ancestry match those same 46 markers within my FTDNA's 111 marker
test.
Ancestry compared my results to other males in their database and provided a match report, which will be
discussed later. Ancestry's rawdata can be downloaded for further study. In addition, Ancestry permits other
company's results to be manually entered for comparison within their database.
The main thing my test with Ancestry provided me was confidence that my FTDNA yDNA results were indeed
accurate, since they were done in a completely different lab and yet matched perfectly.
My DNA Matches
Each DNA testing company has a large private database of people who have tested with their service. When
someone submits a DNA test, they are required to agree or disagree to share their results with others who
match their results. Most people agree to share their results. After all finding matches is the reason nearly
everyone takes a test.
Unless someone displays their actual email address, communications with matches is handled indirectly through
the test company.
1.) 23andMe DNA Matches
The matching analysis provided by 23andMe is based on autosomal DNA and therefore shows cousins from all of
my family lines sorted by how closely they match me.
My closest match shows 2.46% shared DNA on 8 segments. Unfortunately, this "male" chose to not show their
name or pedigree. 23andMe estimates this person would be a 2nd to 3rd cousin. His paternal haplogroup is
R1b1b2a1a1* the same as mine, suggesting he may very well be an Allen. I have sent him a request to share
information but have not received a response.
23andMe shows I have 990 matches to others in their database. These matches range from 2.46% down to
.18%. To help put this into perspective, a 1st cousin should share about 12.5% DNA, a 2nd cousin 3.125% and a
3rd cousin .781%.
Out of these 990 matches, only 8 are close to or above 1%, which becomes more meaningful. Only 5 of those 8
have shown their family’s surnames, and 3 of those have surnames common to my family tree.
While these matches are interesting, it may not be that helpful to someone who already has most of their family
lines documented.
As mentioned earlier, I was able to upload my 23andMe autosomal DNA rawdata to FTDNA for comparison
within their database, which will be covered later.
2.) Family Tree DNA Matches
My matches within FTDNA fall into 2 categories; yDNA matches and FamilyFinder (autosomal) matches. My
FamilyFinder matches are based on my 23andMe rawdata upload and will be discussed briefly following my
yDNA matches.
a.) yDNA matches
My yDNA matches are of most interest to me, because yDNA follows a male's surname. I joined FTDNA's yDNA
Allen project in 2007 after my first yDNA test.
Connections have been established through 4 of Edward's sons; David, Samuel, Benjamin and Edward.
There are 12 of us in my matching subgroup and 7 more in the unassigned section for a total of 19, plus 3 more in Ancestry for a total of 22. All
but 8 of us show their lineage back to Puritan immigrant Edward Allen of Ipswich.
The Allen yDNA project administrator has subdivided several hundred participant's test results into subgroups based on their 1st 12 STR markers.
Those within a specific subgroup have a high probability (90%) of sharing a common ancestor within the last 24 generations.
There are 3 of us in the John Allen “brickwall” group. If we go back to Edward Allen, then John is most likely a
great-grandson of Edward Allen. It is also conceivable that we go back to a brother or uncle of Edward Allen.
It is possible the 6 other brick walls without a connection may descend from one of Edward's other 3 sons;
John, William or Caleb.
The formula then would be; (20) x (67) x (.002) = 2.68 mutations or steps. This tells us it would be reasonable to expect 3 steps between my
results and 284914's results, if we shared Edward Allen as a common ancestor. Comparing actual STRs shows there is, in fact, 3 steps between
the two of us.
Using this average can be helpful showing how many mutations or steps to expect between 2 male's test results. The formula would be (number
of STRs tested) x (DNA exchanges) x (.002). For example, there have most likely been 10 DNA exchanges from me back to Edward Allen. Then
another 10 DNA exchanges forward to test kit 284914.
The mutation rate of yDNA chromosome markers or STRs is roughly once every 500 generations or mathmatically .002. This is simply an average
across all markers. Specific STR markers mutate at varying rates, some faster, some slower, but chosen as a group to represent about 24
generations; the time that surnames have been in common use.
I used the McGee tool using a 50% probability setting and McDonald/Sorensen mutation rates to create the
following comparison charts. 12, 25 and 37 marker results were not included and only those who tested to 67
markers are included. I also did not include 111 marker results, because only 2 of us have tested to that many
markers.
The McGee tool generates a modal for the test kit STR strings, which are then compared to the modal. If the test
kits represent a fair distribution of the progenitor's descendants, one might go so far as to say the modal
represents the DNA of the progenitor.
Comaparing each test kit's genetic distance and time to most
recent common ancestor suggests the relatedness of each test kit
to each other.
N32839 is a known 5th cousin of 284914, yet shows up as an
outlyer of the subgroup. This is a result of an unexpected mutation
of DYS390.
This marker is within the 1st set of 12 markers and is a key
subgroup or subclade identifier. N32839's 1-step difference on
that marker simply shows any marker can mutate at any time.
The same is true of 126930, a known 5th cousin of 97507. Test kit
126930 has a 1-step mutation on DYS437, a marker within the 1st
25 set of markers.
Subtracting my 300 year TMRCA from my 1946 birth
year results in a probable birth year of 1646 for my
MRCA.
Edward Allen of Ipswich married Sarah Kimball in 1658.
Subtracting 26, the average age of Puritan males at
their 1st marriage, results in a probably birth date of
1632 for Edward.
This analysis would strongly suggest all 9 of us are
descendants of Edward Allen of Ipswich through his
various sons and grandsons.
The number of years per generation option
was set to 30. This is a subjective
parameter, however a check of my known
ancestors results in a 29 year average.
Another way of evaluating large amounts of data is to summarize it using Principal Component Analysis (PCA). In
this case a matrix with 37 columns of yDNA STRs and 17 rows of yDNA tests has been reduced to just a X and Y
coordinate (2 data points) for each DNA test result.
This allows us to compare the relative nearness of each test kit. It shows while there is a core group of close
matches, several of us, including me (97507) are outlyers from the main group.
b.) FamilyFinder (autosomal) matches
FTDNA's FamilyFinder shows a list of matches in similar fashion to 23andMe, except centiMorgans are used
instead of a percentage of shared DNA.
My autosomal DNA matches to 584 others in FTDNA's database. 44 of them are estimated to be 2nd to 4th
cousins. In fact I did find several of them already in our family's database based on the pedigrees they uploaded
to FTDNA.
While nearly everyone in FTDNA's FamilyFinder database provided their name, only a few have uploaded their
pedigree. As I mentioned above, these matches may not be that helpful to someone who already has very much
of their family lines documented.
3.) Ancestry DNA Matches
It should be noted that I also tested my Y-DNA with Ancestry.com, and there are an additional 3 individuals that
match me in Ancestry's DNA project. Ancestry offers 33 and 46 Y-DNA marker tests.
My results, as well as one other Allen, were tested to their 46 marker test and match exactly. Two other Allens
tested to their 33 marker test and also match me exactly on those 33 markers.
There are only 33 markers in common between Ancestry and FTDNA, which makes its impractical to include
them in the above charts.
One might wonder why either Ancestry or FTDNA choose the markers they chose to test for genealogical
purposes. While the human genome contains 100's of thousands of DNA markers, we are only concerned with
111 Y-STR's for surname genealogical purposes.
Various testing companies will choose among those 111 in an effort to offer the best test they can at a certain
price. The more markers tested the greater the lab work involved and the higher the price.
The 1st 12/25 markers are in common between both Ancestry and FTDNA and assure a relatedness with a
genealogically significant time frame. The rest of the markers tested is more of a fine-tuning preferred by that
company's genetic scientists vs cost/price.
My Ancient Allen Roots and other speculation
It is tempting to think of a particular culture in terms of a DNA haplogroup. For example, was the R1b-U106
haplogroup aligned with the Angles, Saxons, Jutes or Frisians? In reality, cultures and even tribes were a mixture
of various haplogroups. It is true certain haplogroups seem to dominate certain areas.
As this map shows, R1b-U106 today is concentrated in the Netherlands (Friesland) and eastern England or East
Anglia.
The latest research indicates R1b-U106 originated in the upper Danube River valley between 2600 B.C. and 450
B.C. From there it moved northwest into the areas bordering the North Sea, possibly following the Rhine River.
We can see the Frisians, Saxons, Angles and
Jutes were in those areas circa 400 A.D. All of
these were Germanic tribes that had
originated in pre-Roman Iron Age times. To
be clear, the Germanic tribes do not include
the Gauls, Celts or Picts, who, however, were
a branch of the R1b haplogroup that had split
earlier back in the Caucasus region.
Taking this thought a step farther, this map
shows where these tribes had primarily
settled in England by 600 A.D.
And lastly, which areas they settled as
Puritans in the Bay Colonies.
Appendix A
A list of Germanic tribes
Adogit, Aelvaeones, Aeragnaricii, Ahelmil, Alamanni or Alemanni, Ambrones, Ampsivarii or Ampsivari,
Angles, Angrivarii or Angrivari, Arochi, Augandzi, Avarpi, AvionesBaemi, Banochaemae, Batavii or Batavi
today known by Batavians, Batini, Bavarii, Bergio, Brisgavi, Brondings, Bructeri, Burgundiones, Buri,
Calucones, Canninefates, Casuari, Caritni, Chaedini, Chaemae, Chaetuori, Chali, Chamavi, Charudes,
Chasuarii, Chattuarii, Chauci, Cherusci, Chatti, Cobandi, Condrusi, Corconti, Curiones, Danduti, Dani,
Dauciones, Diduni, Dulgubnii, Dutch, Danes, Eburones, English, Eudoses, Eunixi, Evagre, Faroese,
Favonae, Fervir, Finni, Firaesi, Flemish, Forsi, Franks, Frisians, Fundusi, Fischer, Gall-Gaidheal,
Gambrivii, Gauthigoth, Geats, Gepidae, Goths, Gutar Grannii, Hallin, Harii, Harudes, Hasdingi, Helisii,
Helveconae, Heruli, Hermunduri, Hilleviones, Horder, Ingriones, Ingvaeones (North Sea Germans),
Intuergi, Irminones (Elbe Germans), Istvaeones (Rhine-Weser Germans) Icelanders, Jutes, Juthungi,
Lacringi, Landi, Lemovii, Levoni, Lombards or Langobardes, Liothida, Lugii, Manimi, Marcomanni, Marsi,
Marsaci, Marsigni, Marvingi, Mattiaci, Mixi, Mugilones, Naharvali, Narisci or Naristi, Nemetes,
Nertereanes,Nervii, Njars, Norn, Nuitones, Norwegians, Ostrogoths, Otingis, Pharodini, Quadi, Racatae,
Racatriae, Ranii, Raumarici, Reudigni, Rugii, Ruticli, Sabalingi, Saxons, Scirii, Scots, Segni, Semnoni or
Semnones, Sibini, Sidini, Sigulones, Silingi, Sitones, Suarini or Suardones, Suebi or Suevi, Suetidi,
Suiones, Sugambri, Taetel, Tencteri, Teuriochaemae, Teutonoari, Teutons, Theustes, Thuringii,
Toxandri, Treveri, Triboci, Tubanti, Tungri, Turcilingi, Turoni, Ubii, Ulmerugi, Usipetes, Usipi or Usippi,
Vagoth, Vandals, Vangiones, Vargiones, Varini, Varisci, Vinoviloth, Viruni, Visburgi, Visigoths, Vispi and
Zumi.
Appendix B
Mutation Rates of yDNA STRs
Slow Changing Markers
DYS
Mutation
Per
Name
Rate
TE
Fast Changing Markers
DYS
Mutation
Per
Name
Rate
TE
DYS426
DYS454
DYS455
DYS388
DYS392
DYS438
DYS393
DYS437
YCAII
DYS459
DYS448
DYS19
DYS394
DYS389i
Y-GATA-H4
DYS385
DYS389ii
DYS447
DYS391
DYS390
DYS442
DYS460
DYS607
DYS439
DYS464
DYS456
DYS570
DYS458
DYS449
DYS576
CDY
0.00009
0.00016
0.00016
0.00022
0.00052
0.00055
0.00076
0.00099
0.00123
0.00132
0.00135
0.00151
0.00151
0.00186
0.00208
11,111.10
6,250.00
6,250.00
4,545.50
1,923.10
1,818.20
1,315.80
1,010.10
813
757.6
740.7
662.3
662.3
537.6
480.8
0.00226
0.00242
0.00264
0.00265
0.00311
0.00324
0.00402
0.00411
0.00477
0.00566
0.00735
0.0079
0.00814
0.00838
0.01022
0.03531
442.5
413.2
378.8
377.4
321.5
308.6
248.8
243.3
209.6
176.7
136.1
126.6
122.9
119.3
97.8
28.3
Note: TE (transmission events) refers to DNA exchanges or generations. For example, DYS385 would mutate on
average once every 442.5 years.
Appendix C
3rd Party Tool Analysis of my mtDNA
mthap version 0.20beta21 (2013-07-08); haplogroup data version PhyloTree Build 15 (2012-09-30)
+mods; using revised Cambridge Reference Sequence
raw data source 'R3Q7ZVN3'(1).csv (2MB)
Found 39 markers at 39 positions covering 0.2% of mtDNA.
Markers found (shown as differences to rCRS):
HVR2:
CR: 9391T 14199C
HVR1: 16316G
IMPORTANT NOTE: The above marker list is almost certainly incomplete due to limitations of genotyping technology and
is not comparable to mtDNA sequencing results. It should not be used with services or tools that expect sequencing results,
such as mitosearch.
H27
Defining Markers for haplogroup H27:
HVR2: 263G
CR: 750G 1438G 4769G 8860G 11719A 15326G
HVR1: 16129A 16316G
Marker path from rCRS to haplogroup H27 (plus extra markers):
H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2
⇨ 1438G ⇨ H ⇨ 16129A ⇨ H(G16129A) ⇨ 11719A 16316G ⇨ H27