PACE-L Archives

From: "Roy Johnson" <>
Subject: [PACE-L] DNA newsletter
Date: Fri, 30 May 2003 22:07:05 -0500

This newsletter from FTDNA is a bit long for posting, but it contains some very important information, so I am pasting it in below.

One item explains the change in the numbering system for some of the markers. When I get time, I will need to update the chart on the "results" page of the Dna project. This will not change any of the matches, since I just have to subtract one from all of the numbers on these markers; the relative "genetic distance' will remain the same.

Roy Johnson

Facts & Genes from Family Tree DNA
==================================
June 2, 2003 Volume 2, Issue 5

In This Issue
=============
Editor's Corner
In the News: Family Tree DNA Milestone and Enhancements
Genetic Genealogy: The Past and the Future
Understanding Your Results: Are We Related?
Recruiting Participants: The Search
Understanding Your Genetic History: The Jargon
Case Studies in Genetic Genealogy
Spot Light: Mumma Surname Project
In the Next Issue


Editor's Corner
===============
May has been another busy month at Family Tree DNA. On May 14, 2003, we
shipped kit number 10,000. In May, we also implement several enhancements
to our web site, as well as additional certificate ordering. All the
details can be found in the article below titled "In the News".

This month was also the 3 year anniversary for the very first Surname
Project, the Mumma Surname Project. To celebrate the 3 year anniversary
of the first Surname Project, this month's Spot Light will cover the Mumma
Surname Project. The Mumma Surname Project was both the first Surname
Project at Family Tree DNA, as well as the first Surname Project in the
world outside of academic institutions.

There has been many changes in the field of Genetic Genealogy in the last
3 years. The article "Genetic Genealogy: The Past and the Future" will
tell you about the major events in the last 3 years, as well as Family
Tree DNA's predictions for the future. It has certainly been an exciting
3 years.

We at Family Tree DNA would like to thank everyone for his or her
suggestions, comments, and submissions. Your input is appreciated. Send
your comments, suggestions, tips, questions, and tell us about your
Surname Project to: . We hope you enjoy this
issue.



In the News: Family Tree DNA Milestone and Enhancements
=======================================================

May 14th, 2003 was an exciting day at Family Tree DNA, as we shipped kit
number 10,000. Three years ago this month, May 2000, we announced our
first Y DNA test and mtDNA test, and began taking orders.

Family Tree DNA implemented several enhancements to the web site this
month. As we announced in January, 2003, we have an aggressive plan for
this year for developing and implementing new features for our valued
customers. The enhancements implemented in May are covered below.

1. Fast marker indicators

On the Group Administrators Generate Y DNA Results Page, the headings for
the fastest moving Markers are now shown in red. There are 12 Markers
which appear to be the fastest moving Markers. Three(3) of these fast
moving Markers are in the first 12 Markers, and the other nine(9) are in
the last 13 Markers. With the Marker names in red for the fastest moving
Markers, it will be easier for you to take into consideration mutations
when interpreting results.

2. Order status

For all customers who return their kit for their first test, you can now
log in, and check the status of your DNA Test. The screen you will
receive when you log into your Family Tree DNA Personal Page will show the
following:

Kit Received
Batch xx created
DNA Isolation began
DNA at Sequencing facility
Quality Control began
Final Results expected

Dates will appear as your test kit progresses through each step. A Batch
represents a group of test kits, which will be run together. When a batch
is created, the group of test kits will go to the lab. The xx in the list
of steps above, in the line Batch xx created, represents the Batch number
which is assigned when the batch is created.

When the Quality Control step begins, an estimated date for your Results
is then shown. Please note that this is an estimate. The lab will do
their best to meet the estimate, but we expect initially that we may
encounter a few short delays, until we have improved the estimating
algorithm. We will never rush results at the expense of accuracy.

3. New matches now appear at the top of the list on the Y DNA and mtDNA
Match Page

Several enhancements have been made to the Y DNA and mtDNA Match Page.
The most recent matches are shown at the top of the list in each category,
and then descending in reverse date order of when the test result came
back from the lab and the match occurred. Also, the symbol ** appears
next to any results that have occurred since the last time you viewed your
matches. In addition, a count appears for each category of Matches. This
count appears after the category title, as shown in the example below,
where there are 4 Exact matches in the category "12 Marker Y-DNA Exact
Matches".

Example:
12 Marker Y-DNA Exact Matches (4)


4. Adjustment to scoring of Markers DYS 464a 464b 464c 464d

Our testing laboratory at the University of Arizona has been actively
identifying Markers and publishing the standardized nomenclature systems
for these Markers. [A nomenclature system is how to count the repeats for
the Marker, and therefore this determines the result you see for a
Marker.] To benefit our customers, we support the standardization of
Marker nomenclature systems between different genealogical testing
services. In support of standardization, Family Tree DNA utilizes the
nomenclature published in the scientific literature.

Testing of Markers 464a 464b 464c 464d was available from Family Tree DNA
before the standardization for scoring these Markers was published in the
scientific literature. When the scientists at the University of Arizona
were reviewing all the tests of these Markers for finalization of the
nomenclature for publication in the scientific literature, they determined
that the initial system was one repeat too long. Therefore, your result
for these Markers was decreased by 1.

Since Family Tree DNA is the only genealogical testing service offering
Markers DYS 464a 464b 464c and 464d, no problems has been caused by how
the Marker was scored. Since these Markers, which were discovered by the
Hammer lab, may become available from other testing services, we have
changed our results to ensure that no scoring confusion is brought to the
Genetic Genealogy community. All the results in our database were
corrected, simultaneously in May 2003. The correction does not effect
matching, since the whole database was adjusted down by 1 for Markers 464a
464b 464c 464d. The example below shows how the values would change:



Example:

-------464a 464b 464c 464d
before 16 16 17 18
after 15 15 16 17



5. Certificates

A new selection now appears on your Family Tree DNA personal page to order
certificates. If you order a 12 Marker test, and later upgrade to a 25
Marker test, you only get a certificate for the initial 12 Marker test.
To get a certificate for the 25 Marker test, simply click on "order
certificates". The same applies if you order an mtDNA test, and later
upgrade to mtDNA Plus. You only received a certificate for the mtDNA
test, and you can now order your certificate for the mtDNA Plus test.

You may also want to order certificates and give them to members of your
family, where the DNA results of the person tested apply to the family
members. For example, your father tested, and perhaps you would like
certificates for your sisters, and your grandchildren, since your father's
results apply to these persons also.

When you do a test at Family Tree DNA, except for upgrades, you get a
certificate included with the test. When you order an upgrade, such as to
25 Markers, or the upgrade to mtDNA Plus, you do not get a certificate.
If you initially order the Y DNA 25 Marker Test, or mtDNA Plus, you will
get that tests certificate.

All the tests at Family Tree DNA include a certificate, except the Y DNA
upgrade and mtDNA Plus upgrade. This is illustrated in the chart below:



Test Certificate
12 Marker Y DNA Test Yes
25 Marker Y DNA Test Yes
25 Marker Y DNA Upgrade Not included--optional

mtDNA Test Yes
mtDNA Plus Test Yes
mtDNA Plus Upgrade Not included--optional

Haplogroup Test Yes

DNAPrint Test Yes

Male native American Test Yes
Female native American Test Yes



With your certificate that is included with a test, you also receive
explanatory materials, reports and migration maps, when applicable.



Genetic Genealogy: The Past and the Future
===========================================

Just three(3) years ago, in late May 2000, Family Tree DNA began offering
a Y DNA test and a mtDNA test. Family Tree DNA was the first commercial
testing service to offer Genetic Genealogy tests to the public. The
initial Y DNA test was for 12 Markers, and the mtDNA test was only for the
HVR1 region.

Prior to offering these tests to the public, extensive research and
testing was performed by Dr. Hammer and his team. Once these Genetic
Genealogy tests met the stringent criteria developed jointly between Dr.
Hammer at the University of Arizona, and Family Tree DNA, the lab and
Family Tree DNA were ready to offer these tests to the public.

At the same time, Oxford Ancestors, under the direction of Professor Brian
Sykes, announced mtDNA testing, and stated that Y DNA testing would soon
be available. Gene Tree, Inc., a company that was performing paternity
testing, was planning to enter the Genetic Genealogy market as well.

The first Surname Project established in the world, outside of an academic
institution, was the Mumma Surname Project, which selected Family Tree DNA
as the service provider. One of the criteria for selecting Family Tree
DNA as the service provider, as stated by the Group Administrator, Doug
Mumma, is that Family Tree DNA offered the most markers. At that time,
Family Tree DNA offered 12 Markers, and Oxford Ancestors planned on
offering 10 Markers for their Y DNA test. Today, Family Tree DNA offers
25 Markers, and Oxford Ancestors still offers only 10 Markers.

Over time, and slowly in the beginning, Surname Projects were started. At
the end of 2001, a year and a half after first offering Genetic Genealogy
tests to the public, there were 18 Surname Projects established. Today,
there are over 475 Surname Projects at Family Tree DNA. That is quite a
change in 3 short years. During the first 18 months, 18 Surname Projects
were established, and during the next 18 months, over 460 Surname Projects
were established.

The first 10 Surname Projects at Family Tree DNA were the following:

Baker
Brown
Duerinck
Franklin
Meates
Mumma
Rice
Roper
Rose
Skeen


Many changes, innovations, and discoveries have occurred in Genetic
Genealogy during the past 3 years. These past 3 years represent the
beginning of the market for Genetic Genealogy testing services. This time
period at the beginning of a market is known as Stage 1, or the
Introduction Stage, in a business life cycle model. During the
Introduction Stage, a new market is developing, and those that purchase
the product or service are the first to try a new product/service. These
people who purchase the products/services and the businesses who offer the
products/services are the pioneers, who blaze the trail.

In the opinion of the management of Family Tree DNA, the Introduction
Stage has ended, and we are now entering the next stage in the development
of the Genetic Genealogy market. In the Introduction Stage, the customers
are typically those with a technical background, and who are comfortable
exploring "new" products and services. In the next stage of market
development, the products/services begin to be accepted by a broader
segment of the market. This next phase of market development is typically
called Technological Growth and Diversity, or Stage 2. In this next phase,
more people will hear about Genetic Genealogy tests, and get an
understanding of what the tests can provide for their family history
research. In this stage, we will see a significant increase in Surname
Projects, as well as participants in the Surname Projects. In addition,
in this stage we expect to see rapid product improvement, a higher variety
of products, and a higher rate of new product introduction. Family Tree
DNA expects that this next market stage will last about 3 years.

The following market stage, after the next 3 years, is where the market
experiences very rapid growth, and the Product/Service becomes a household
word, and an intricate component of Family History Research. Many
exciting innovations and research discoveries will occur between now and
then. We are looking forward to the journey of discovery over the next 3
years, as we make these discoveries together, with you, our valued
customers.



Understanding Your Results: Are We Related?
===========================================

Some Family Tree DNA customers will have Y DNA 12 Marker Exact matches
with other surnames, and on a rare occasion, a 25 Marker Exact match with
another surname. Most likely these people are not related in a
genealogical time frame.

To understand how this situation occurs, we start by looking at the
population before the origin of Surnames. Before the adoption of
Surnames, there existed various Y DNA 12 Marker and 25 Marker results in
the male population. The quantity of persons with any particular Y DNA
result varied, based on their success of having male children, the
survival of the male children, and how many of the male children
procreated more male children. There was also migrations throughout the
world. In addition, during this time, Markers continued to mutate, just
as they do today.

Surnames began to be introduced and adopted at different rates in
different countries, typically with the upper classes adopting surnames
initially.

Different persons through out a region of the world population would have
had the same 12 Marker result at the time of the introduction of surnames.
This situation would have occurred due to some of the people being related
and the others as a result of Convergence.

For more information on Convergence, see the Facts and Genes Vol. 1, Issue
5, the article titled "Haplotypes: Convergence".

http://www.familytreedna.com/facts_genes.asp?act=show&nk=1.5


As the adoption of surnames occurred, different persons with the same 12
Marker result most likely adopted different surnames. For example,
perhaps there was a person in London who adopted the surname Barker and
another person existed in Scotland with the same 12 Marker result, and
they adopted the surname MacGregor. Assuming that there were no
mutations, the descendents today would have a 12 Marker exact match, but
they are not related in a genealogical time frame.

The key element in evaluating 12/12 Matches and 25/25 matches is the time
frame. We are all related at one point in time. For our family history
research, we are most likely only interested in a genealogical time frame.
The genealogical time frame most likely does not start before the adoption
of surnames, so the first requirement to determine relatedness is the
surname.

The Marker mutation rate does not care about surnames, or whether the
person even had a surname. Markers mutated before surnames and after the
adoption of surnames. By utilizing the criteria of surnames, you are
establishing the time frame for evaluating relatedness.

If two people match 12/12 or 25/25 and the surname matches or is a
variant, then they are probably related since the time of the adoption of
the surname. If two people match 12/12 or 25/25, and the surname does not
match, they are most likely related before the adoption of surnames.
(This statement excludes adoption, and extra marital events.) Being
related before the adoption of surnames is probably not relevant to those
doing family history research, so matches with others of different
surnames are ignored. When two people match and share the same surname,
they would be related since the time of the adoption of the surname.

Scientifically, the probability that two people are related is the same on
a 12 Marker match and a 25 Marker match, 99% probability that they are
related. The question then becomes WHEN the relatedness occurred. A 25
Marker match has a smaller window of 1200 years, while the 12 Marker match
has a much larger window of 2500 years.

The surname effects the time frame for when they are related. When the
surname matches, the time frame is shortened, so the two people are
related since the adoption of the surname. From a genealogical
perspective, determining the first recorded instance of the surname would
put a time frame for the adoption of the surname, even though it could
have been used prior to that even, but not recorded or the documents lost
or destroyed.

Matches with other surnames can occur for anyone, with any 12 Marker or 25
Marker result, who belong to any Haplogroup. We happen to observe this
situation occurring more frequently with those who belong to Haplogroup
R1b, since this Haplogroup comprises a large percentage of the European
population and their descendents.

Most matches with other surnames are not worth investigating. 12 Marker
results, called Haplotypes, began evolving and mutating with the first
Humans. The time frame for relatedness is a relevant factor, and surnames
establish a time frame.



Recruiting Participants: The Search
====================================

The best potential participants for DNA testing are those who are
interested in genealogy, and are researching their family tree or the
surname. If you have exhausted all your leads and you have posted to all
the mailing lists for those that are researching your surname - now what?

You might want to try some Google searches, at Google.com. A few search
examples are shown below. You will get a different quantity of results
with each search example. Some may provide too many results which are not
relevant, while one of the other searches shown may provide less results,
but more relevant results. A lot depends on your surname.

To find those with your surname and an email address, try the following
searches:

"surname@"
Replace the word surname with your surname, and be sure to enclose the
search string in double quotes as shown.


"family history" surname @
Replace the word surname with your surname, and be sure to enclose the
words family history in double quotes

Genealogy surname @


The @ character is included in the above searches, to limit the results to
pages that have an email address. In the first search, you are looking
for people with your surname as part of their email address. In the other
two searches, you are looking for pages with your surname, and an email
address, which may or may not apply to your surname, and the pages relate
to family history or genealogy.

You can expand or modify the above searches, or create your own, following
a few rules, which are shown below:

Use a plus sign before words which are required to be found.

Use a minus sign before words that you want to be excluded from the
search. The minus sign is very useful when searching for a surname that
has a common usage or is shared by a celebrity. Examples are Apple and
Ford. With Apple, you would want to exclude items like Crisp by preceding
it with a minus sign. For Ford, you would want to exclude Harrison Ford,
by putting a minus sign before Harrison as part of your search string.

Use quotation marks around two or more words that you want Google to find
in exactly that order. For example, by putting the double quotes around
"family history", Google will only return results that contain those two
words together, in that order. Otherwise, without the double quotes, you
would get many sites that have the word family and the word history
somewhere on the page.

Use OR to retrieve search results that match any number of words. The
default operation for Google is to return results that match all the items
you specify in the search string. By using Or, you can increase the
number of results. Here is an example:

Genealogy OR "family history" surname @

Here are some examples using the above 4 rules:

+Surname genealogy OR "family Tree" OR "family history"


Recruiting participants is an on going process. If one method is not
providing the desired results or participants, try another method. As you
continue your efforts to find participants, focus on benefits.

Family Tree DNA does not endorse or sponsor any of these products or
sites, and provides the information only to assist those interested in
Genetic Genealogy in contacting others with their surname.



Understanding Your Genetic History: The Jargon
==============================================

As you explore your heritage through DNA testing, you will probably
encounter some new terms. Below are a few definitions. Definitions will
periodically appear in issues of Facts & Genes.

DYS ###:
========

The Markers used in the Y Chromosome DNA test have names, such as DYS 393,
DYS 459a, and DYS 449. The label DYS stands for

D Designated
Y Chromosome
S Segment

The DYS numbering scheme is controlled and administered by the HUGO
Committee based at the University College in London. HUGO is the short
form of: Human Gene Nomenclature Committee. When new Markers are
discovered, the scientist applies to HUGO for a DYS number for the Marker,
to give it a name.


Locus
=====

A specific location on a chromosome.


Mutation
========

Small changes that can occur during the DNA copying process during
transfer from father to son.



Case Studies in Genetic Genealogy
=================================

In each issue of the Newsletter, we look at what Genetic Genealogy will do
for your Family History research. This article is a continuation of the
topic, with situations, called "Case Studies", followed by a
recommendation. The objective of the case studies is to present different
situations you may encounter in your family history research, and how DNA
testing can be applied.


Case Study
==========

The first two results came back for our Surname Project. Both
participants took the 25 Marker Y DNA test. They matched each other
24/25. One had a 16 at Marker 458, and the other had a 17. The paper
trail shows that these two participants MRCA, Most Recent Common Ancestor,
was their Great-Great Grandfather.

How do I interpret these results? Do these results rule out an extra
marital event, and have I succeeded in validating the results for my Line?


Recommendation
==============

The 24/25 match confirms your documented research. In addition, by
testing two persons from your Line you have scientifically validated your
results for the Line. One mutation has occurred, at one point in time, in
one of the two branches of your tree. Unfortunately, you do not yet know
which of the two results would be the result for the participant's Great
Great Grandfather, since the two results do not match 25/25. It is
recommended that you find another branch of the Line to test. Perhaps the
Great Great Grandfather had another son. In that case, if you test a
descendent of another son, most likely the result would match 25/25 one of
the two results you have now. Which ever result the new participant
matched, would then be the result for the Great Great Grandfather.

In conclusion, you have the same surname, a documented paper trial, and a
24/25 match. This is excellent, confirms your research, and you have
validated your Line.



Spot Light: Mumma Surname Project
=================================

The Mumma Surname Project holds the distinction of being the first Surname
Project established in the world, outside of an academic environment.
Doug Mumma, the Group Administrator, was truly a pioneer in the
application of DNA testing for genealogy.

Back in 2000, there were many unanswered questions concerning those with
the surname Mumma, and possible variants, such as Momma. The Mumma
surname does not exist outside the US, except in a small isolated area in
Estonia. Various family legends exist regarding the origin of the Mumma
surname, though no evidence exists to support any of the legends. Research
indicated that the Mumma surname could be a variant of the Momma surname,
which exists in Germany. The Momma family has been documented as living in
the Aachen-Stolberg area of the Holy Roman Empire, near the intersection
of the current German-Belgium-Dutch boarder, since the 1500's. Descendants
of this family reside there to this day.

The idea for the Mumma Surname DNA Project was conceived in early 2000.
The major objective for the project was to determine whether or not the
various Mumma branches were related. A secondary goal was to build a
database of results from various participants, in the hope that these
results could be used to identify specific branches within a given tree.
After establishing the objectives, the next hurdle was to find a testing
laboratory capable of performing the DNA testing.

Doug Mumma investigated the vendors he could find. These vendors were
GeneTree, who performed paternity testing and were looking going to expand
into genealogical testing, and Oxford Ancestors, who planned on offering Y
DNA testing in the future. He then found Family Tree DNA. Family Tree
DNA was founded specifically to provide genealogical testing services.
Family Tree DNA was selected as the vendor for the Surname Project, based
on a number of factors, including being associated with Dr. Hammer and
offering the most Markers.

To recruit participants, Emails were sent to 500 persons with the Mumma
and variant surnames. 27 participants signed up, representing the Mumma
and variant surnames in Germany, Estonia, the US, and Canada. This was a
major recruiting accomplishment, given that in 2000, hardly any
genealogists had heard of using DNA testing for genealogy. The test kits
were sent out, and within 30 days, 26 of the 27 kits were completed and
returned.

A total of 51 men have participated, 47 results have been received, and 4
test kits are at the lab. The participants who are Mumma descendents have
all upgraded to the 25 Marker test.

The results have been quite interesting. The Mummas in Estonia, although
sharing the same surname, do not match any of the Mumma Lines in the US.
The results also showed that the Momma and Mumma Lines were indeed
related. Documents show that the connection is prior to 1600. 37 of the
participants in the project are related, and 16 of these had a 25/25
match.

The Mumma Surname Project continues to recruit and test those branches who
have not yet participated, both in the US and the Germany Momma Lines.



In the Next Issue
=================
We hope you have enjoyed this issue of Facts & Genes. Please feel free to
contact the editor with your comments, feedback, questions to be
addressed, as well as suggestions for future articles. If you would like
your Surname Project featured in our Spotlight column in a future issue,
please send an email telling us about your project. If you are a Project
Manager and can help others with tips or suggestions, please contact the
editor:



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• [PACE-L] DNA newsletter by "Roy Johnson" <>