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- Grace
DNA & Genetic Genealogy - Last
update: April 2010
[Member
of ISOGG]

Introduction
Results
For the GRACE Y-DNA Project
Summary
Some
Definitions
Further
Reading
|
You can
compare your Y-DNA
data with
mine at: Ysearch
(UWF4Z),
use my DNA worksheet
or compare Y-marker
frequencies
My current
Haplogroup definition: R1b1b2a1a4*
(shorthand R-L48)
My
mtDNA: HVS-1
sequence mutations from CRS defining Haplogroup T1a
- 16126C,
16163G,
16186T,
16189C,
16294T,
16519C HVS-2
differences: 073G,
152C,
183G,
195C,
263G,
309.1C,
315.1C
See
also Mitosearch
ref. 5M94F
|
Note: This
webpage focuses on my reasons for doing the Y-DNA test to
determine my ancestral origins. The majority of testing firms,
ISOGG and online encyclopedias have excellent look-up webpages
that explain the techniques, terminology and current
nomenclature. However, bear in mind that 10-12 DYS markers will
help estimate your haplogroup, and 20-25 markers for surname
grouping (excluding abundant R1b1's like myself, where you will
need more markers). A full 67-marker test is recommended.
INTRODUCTION
Some detail of the direct
paternal line passing directly from father to son using the
Y-chromosome (Y-STR) can be revealed for genealogical studies. As
all males on the same family tree, bearing the same name and more
distant paternity, share the same Y-chromosome, DNA is one way to
show family connections over many hundreds of years - further
back than historical records. Having R1b1, I have one of
the most common haplotypes in Europe. Further SNP testing has
refined this to revised 2010 subclade R1b1b2a1a4* (positive for
L48). No further deep clade tests are currently available.
The basis for my
project is to try to determine the genetic relationship, if any,
between my GRACE family tree and any other GRACE family tree pre
1820, or any other family names. My personal interest is that the
paper trail for my branch has not been found prior to 1836 (the
marriage of my 3xGGF, born c1811). It is hoped that sufficient
results will eventually be found to represent the main GRACE
families, particularly those linked to ancient population centres
of the name, such as Co. Kilkenny in Ireland and the
Buckinghamshire area of England, and therefore confirm my GRACE
surname origins, or confirm another family connection if my 3xGGF
was an orphan, which is a possibility. So far other GRACE family
names tested outside of my
GRACE family are
far-removed from my own. My haplotype, which was confirmed to be
truly representative of my GRACE family tree in 2010, is closest
to a type commonly referred to as Frisian, relating to the
concentration of that haplotype in region of Frisia (the coastal
islands of present-day Netherlands & Germany). This raises
the interesting possibility my GRACE family may be immigrants
within historical times.

View
an animated history of human migration
R1b is considered to belong to the
descendants of the first modern humans who entered Europe about
35,000-40,000 years ago (also referred to as the Aurignacian
culture, which included the cave painters in today's France &
Spain). They were the contemporaries of the European
Neanderthals, a separate human species.
R1b is the most common Y haplogroup in
Europe, with more than half of European men carrying it. Most of
the present-day European males with the M343 marker also have the
P25 and M269 markers, which together define the R1b1b2 subclade.
This subgroup is believed by some to have existed before the last
Ice Age. Archaeological evidence supports the view of the arrival
of Aurignacian culture to Anatolia from Europe during the Upper
Palaeolithic rather than from the Iranian plateau to the east.
New age estimates suggest that R1b's parent, R1, is only about
18,500 years old.
Although the precise route of the M269
marker is not known, it is theorized to have originated in
Central Asia/South Central Siberia. It could have entered
prehistoric Europe from the area of Ukraine/Belarus or Central
Asia (Kazakhstan) via the coasts of the Black Sea and the Baltic
Sea. It is considered to have entered Europe sometime after the
Last Glacial Maximum when the continent became increasingly
uninhabitable. The genetic diversity narrowed as the population
became limited to a few coastal refugia in Southern Europe. The
present-day population of R1b in Western Europe are believed to
be the descendants of a refugium in the Iberian Peninsula
(Portugal and Spain). As conditions eased about 14,000 years ago,
descendants of this group migrated and eventually recolonised all
of Western Europe.

R1b1b2a1a
(R-U106/R-S21.R/L44):
This subclade, to which I belong, appears
to be in over 25% of R1b. This group has a maximum in Frisia. The
U106 subclade may have originated towards the end of the last ice
age, or perhaps more or less 7000 BC, possibly in the northern
European mainland. A close match of the present-day distribution
of the S21 marker and the territorial pattern of the Eastern
Corded Ware cultures and the Single Grave cultures has been
reported. Before the North Sea basin completely filled with water
from glacial melting, Britain was attached by land to the
Continent. I may be a descendant of the tribes who inhabited this
area, now under water, sometimes referred to as "Doggerland".


RESULTS FOR THE GRACE
Y-DNA PROJECT
Your DYS results
can also be compared on to the publicly available Ysearch
database.
Mutations are
thought to occur (on average) once every 500 years, so
theoretically an exact match could be traced back to within a
time since surnames were established (C13th) assuming the
paper trail exists and a genetic link is suspected (i.e. the
same family name or a known "non-paternity event"
(Non-Patrilineal Transmissions (King & Jobling 2009))). NPEs
or NPTs, where calculated, are of the order of a few percent in
modern times. Any greater difference is likely to indicate that a
connection would be before the use of surnames, but would have
regional significance. If there is any genetic link between 4
mutations and greater, then this is most likely to have been in
excess of 2,000 years ago.

To find how my
3xGGF Jeremiah GRACE is related to any other family (if an orphan
or immigrant), I will need to find a match to 4-5 generations, as
defined on the chart above, i.e. using more than 40 markers, with
associated regional and genealogical evidence, suggesting
a connection within the last 200 years, possibly in the East
Midlands & East Anglia region of England or a Frisian (Dutch
or German) immigrant. I have 67 markers tested so
far, with the best recorded match being 40 out of 44 markers for
a non-GRACE surname, a provisional genetic distance (GD) of 4. In
2010, one of my most distant cousins (a third cousin or 3C)
tested for 67 markers, and apart from 1 fast mutator (DYS576),
confirmed the haplotype for our GRACE family tree. We can be sure
we are descended from the same ancestor, the current known head
of our family tree, and that there has been no NPT along our two
lines. With this confirmed, the focus for the genetic history of
our family can focus outside of the known tree.
Early statistic on
DYS576, a fast mutator, 42% of R1bs have 18 tandem repeats. With
my value at 17 (26%) and my 3C at 16 (6%), suggests the mutation
that separates us most likely occurred along his line (although
mutations can mutate up as well as down). This would only be
revealed if more GRACE cousins were tested.
My GRACE Y-DNA Project, compared
to the small sample of other GRACEs tested so far, finds no
match. The nearest GRACEs on YSearch are a GD of 9 on 25 markers
and 13 on 37 markers, both with connections to Ireland. Based on
the lack of a genealogical trail that explains the origins of my
3xGGF Jeremiah GRACE (possibly an orphan born around 1811), I am
looking for "the needle in a haystack" genetic
connection to any other family.
Any GRACE family name DNA
worldwide can be compared at the Worldwide
GRACE DNA Study. All GRACE
males interested are welcome to join.

SUMMARY
R1b1 Y-DNA is generally of
no assistance to those wishing to find a genealogical
connection, since a large proportion of the population with
ancient European origins carries this haplotype. There are
millions of individuals in thousands of families. Even people
with the same surname cannot be linked using this alone, unless
proven by a family tree, as they may have origins with
non-relations in a particular location (e.g. HILL) or with a
specific occupation (e.g. SMITH). It is very likely that similar
family names were attained for different reasons in different
places, and have since been standardised, and as result there
will be no modern family connection, even among most GRACEs.
However, we do have an ancient family connection, as genetics
have already established that all humans are related and
therefore we are all cousins. It is just a question of time.
Statistically, there is a web that
connects not only people living on the planet today, but to
everyone who ever lived. Calculations show that you would have
to go back in time only 2,000 to 5,000 years to find somebody
who could count every person alive today as a descendant. A
little further back, about 5,000 to 7,000 years ago, everybody
living today has exactly the same set of ancestors. In other
words, every person who was alive at that time is either an
ancestor to all 6 billion people living today, or their line
died out and they have no remaining descendants. It is
exponential growth combined with the facts of life. By the 15th
century everyone has a million ancestors. By the C13th you've
got a billion. Sometime around the 9th century, about 40
generations ago, the number tops a trillion. The individual from
whom all modern human mtDNA is descended, would have lived
120,000 to 150,000 years ago.
DNA patterns found in people
throughout the world have now identified lineages descended from
10 sons of a "genetic Adam" and 18 "daughters of
a genetic Eve".

SOME
DEFINITIONS
|
Most of us are not
geneticists, so here is an attempt at a plain language guide
to some of the terms used. Words defined elsewhere in the
alphabetical list are given in italics:
Allele
- any of two or more genes that have the same
relative position on related chromosomes
Allele
Value - The number of repeats of the short
nucleotide sequence in the locus, obtained by adding a fixed
offset to the score (see DYS charts)
AMH
- a common haplotype known as 'Atlantic
Modal Haplotype' found in surnames along the Atlantic
coast in Europe. Defined as R1b, it is further defined by
DYS 19, 388, 390, 391, 392 & 393 with repeats 14, 12,
24, 11, 13, & 13 respectively.
Chromosome
- A group of several thousand genes. Humans are
defined by 22 pairs of chromosomes plus X & Y.
An X chromosome pair defines a female, while an X &
Y pair defines a male (23 pairs in all)
CRS
- Cambridge Reference Series otherwise
known as haplotype H for mtDNA (more recently refined
to be H2b
DNA
- Deoxyribonucleic Acid; the main
constituent of chromosomes - the double helix
containing the chemical code that defines who and what we
are. The main four chemical bases that make up that code are
Adenine, Thymine, Cytosine &
Guanine (indicated by their first letter)
DYS
(number) - DNA Y Chromosome unique Segment,
also known as microsatellite loci (pronounced "lo-see"
In Europe and "lo-si" in the US). The numbering
scheme is controlled by the HUGO standards body.
These loci are where the genotyping takes place, however
caution is advised when comparing results between different
labs as full international standards are yet to be
established
Gene
- A unit of heredity, capable of replication and mutation,
occupying a fixed position on a chromosome, and
passed on from parents to offspring during reproduction
Genetic
Distance or GD - The difference in the number of
mutations between individual samples
Haplogroup
or Clade - A group of individuals sharing the
same haplotype and therefore share a common ancestor.
In the case of mtDNA they have motifs such as H, T,
U, X, etc., which have been popularized through the use of
virtual maternal clan names such as Helena, Tara, Ursula,
Xenia, etc. Y-chromosome haplogroups have been given names
relating to locations where they commonly occur, such as
AMH. 8 Y-chromosome haplogroups in Europe are
connected by a defined mutation event. These are defined by
DYS & UME. A haplogroup is defined by
"slowly" mutating loci (cf. haplotype), so
matching or close matching haplotypes belonging to different
haplogroups are not closely related genetically
Haplotype
- The results of the Y-chromosome test that can be used for
DNA matching. It can be a single or unique set of
chromosomes. Haplotypes are described by the number of base
repeats (A, C, T or G) at the microsatellite loci (DYS) and
in general are defined by "rapidly" mutating loci
(cf. haplogroup). The Extended European Haplotype is
defined by loci DYS 19, 385 I/II, 389I,
389II, 390, 391, 392, 393, YCAII a/b
HUGO
- Human Gene Nomenclature
Committee; a standards body
HVS-1/HVR-1
- When geneticists test mtDNA, they look at an area
where mutations are most likely to occur. Then they
compare the result to a standard reference series (CRS) to
see which bases are different. One common region to test is
Hypervariable Segment 1 (HVS-1) also known as Hypervariable
Region 1. HVR-1 starts at base 16,001 and looks at the next
400 or 500 bases. More detailed analysis includes HVS-2.
People with an identical HVS-1 panel are currently thought
to have a time to MRCA of about 52 generations (median
value), whereas an additional match of the HVR-2 panel gives
a median number of 28 generations. My direct maternal line
only goes back to 1818 and 6 generations
Mitotype
- Deviations or mutations
found in mtDNA tested HVS-1
or HVS-2. Compared to the
reference series (CRS) my results, as an example, showed the
following mutations at bases on HVS-1: 16126C,
16163G,
16186T,
16189C,
16294T &
16519C &
on HVS-2: 073G,
152C,
183G,
195C,
263G,
309.1C,
315.1C.
This defines my mitotype. The base numbers are often
shortened to 126, 163, etc. Larger groups of mitotypes are
called haplogroups.
mtDNA haplotypes are also referred to as mitotypes. I belong
to haplogroup T1a (as defined by Pike),
part of "clan Tara", a direct maternal ancestral
origin estimated about 17,000 years BP in Tuscany. As T1 has
recent origins, there has been relatively little time for
mutations (est. 7000-8000 years BP) so a large number of
matches will be found all over northern and southern Europe
west of the Urals. It is estimated 1% of Europeans have the
same, so millions of us have the same mtDNA roots.
Frustratingly, most sites that further define T1 are located
in mtDNA coding regions not part of commercial sequencing at
this time. Currently it is considered that if you match
mtDNA (both of HVS-1 & HVS-2), then common maternal-line
ancestry probably goes back 350-1,250 years (50% probability
of a common maternal ancestor in 14 generations). As of May
2009 I have 3 exact matches for my mtDNA based on HVS1+HVS2,
all based in Germany. This suggest a distant common maternal
ancestor from the area now known as Germany.
T1
mt-Haplogroup project
For
those part of "clan Helena", my wife's mtDNA (Irish
ancestry) is coded with only two mutations 16179T
& 16304C
(based on the first 400 bases). Helena is
the most widespread, with origins about 20,000 years BP in
the borders of present day Spain & France. 304C (along
with 519C not tested for) defines H5a, with origins 7000-8000
years ago in Central Europe post-Ice Age recolonisation.
Alternatively, she is in subclade H1, noting that the
mutation at position 179 is rare, and probably happened
first. 304 is much more mutable. You can check your mtDNA at
Mitosearch
MLE
- Most Likely Estimate when your MRCA
appeared (using a 50% probability)
MRCA
- Most Recent Common Ancestor
(between two people)
mtDNA
- Mitochondrial DNA. Found in all cells and passed on only
by a mother to her offspring, i.e. preserved through the
mother-daughter relationship only. As of May 1009 I have 2
exact matches for mtDNA, which provides a 50% probability
that there is a common maternal ancestor within 14
generations
Mutation
- It is estimated that a mutation occurs once every 500
generations per loci. (Assuming five generations per
century, this would be a mutation every 10,000 years*). This
gives geneticists a tool for estimating how far back a
common ancestor may have been shared by two individuals. In
the case of 12 loci being genotyped, then this would provide
a probability of at least one mutation every 40 generations,
or 800 years (using the same assumption above). Since a
large proportion of the Eurasian population was wiped out in
the C14th by the Black Death (up to a third in the
period1348-50), then for those of European & Asian
origins this should provide a good guide to any common
ancestor that survived this pandemic. It was also a time
when many modern family names were being established. It
should also be noted that a particular mutation, which may
define one branch of the family tree, can, in some cases,
mutate back! [*some demographic experts suggest an average
of 18 years per generation prior to the Industrial
Revolution and 22 years per generation since]
Mutation
Rates - Reference Y-STR(67) haplotype mutation
rate (ystrHMR67) calculations:
.002 x 67 DYS STR
markers = .134 per birth of new generation. (1/.134)=7.5. A
new mutation can happen at any time but a 67 marker
haplotype using the .002 historical mutation rate indicates
it can typically survive unchanged since the generation of
the prior mutation event for a bit more than seven
generations. Random matches will be minimal, if any. The
resolving power of a 67 marker test places the most likely
time to recent common ancestor definitely in a time frame of
genealogical interest and a time frame when many male lines
had already adopted their surnames and written birth records
started to be maintained. If you share the same or similar
surname and match closely with a 67 marker test you probably
share a genealogically relevant most recent common male
ancestor even if not known via the traditional evidence. A
more recent study by FamilyTreeDNA indicates the average
Y-STR marker mutation rate may be more like .004. .002 was
based on fewer markers in earlier tests, therefore:
.004
x 37 DYS STR markers = .148 per birth of each new generation.
(1/.148) = 6.8 generations from MRCA .004 x 67 DYS STR
markers = .268 per birth of each new generation. (1/.268) =
3.7 generations from MRCA
Score
- The private code used by a lab. Add a
fixed offset to the score to get the allele
value (see DYS charts)
SNP
- "snips"; Single Nucleotide
Polymorphisms. The substitution of one DNA base for another.
This are commonly tested for to further define subclades.
The following results place me in the former R1b1ba1a*
(revised FTDNA 2008 nomenclature). The * in 2008 denoted not
a1 or a2 and untested for a3:

UEP
- Unique
Event
Polymorphisms
used by the YCC. Mutations which presumed have occurred only
once in human history because the observed mutation rate is
so very low
UME
- Unique (or near-Unique) Mutation Event
that can be used to further define a haplogroup. These
are diallelic markers notated as SY81, SRY4064, YAP,
SRY1532, SRY10831, M13, M9, TAT, M20, SRY+465, 92R7 &
M17, as examples. The Basque population is a subclade
defined by a mutation at SRY2627. These UMEs are included in
the new Y-chromosome tests for genealogy and are part of the
new YCC nomenclature. See also SNP.
YCC
- Y-Chromosome Consortium introducing a
new and standardised nomenclature for haplotypes.
http://ycc.biosci.arizona.edu/nomenclature_system/frontpage.html The
nomenclature is based on results of UEPs,
including SNPs and
indels (insertions or deletions of DNA segments). Note:
Genealogical testing is done on other kinds of mutations
with a higher mutation rate, whereas population geneticists
use the slower rates for the bigger picture.
Caution:
It is important to note that this is a developing science and
includes assumptions, estimates and statistical
probabilities. Exact matches will show a clear, recent MRCA,
while one or two differences will indicate common ancestry
much further back in time.
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FURTHER
READING
National
Geographic Genographic Project
http://www.ibdna.com/assets/YHaploGroups.pdf
(for current definitions and origins)
http://www.dnaheritage.com/masterclass.asp
Glossaries:
http://www.dnaheritage.com/glossary.asp
FAQs:
http://www.ibdna.com/assets/AncestryFAQ.pdf
& http://www.dnaheritage.com/faqs.asp
One
Name DNA Y-chromosome projects
Genetics
and Genealogy Y Polymorphism and mtDNA Analyses - an overview
Y-STR
Database (European & Other Haplotypes)
FamilyTreeDNA
(Name search facility)
RootsWeb: Browse
the GENEALOGY-DNA archives
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