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A simplified Introduction to DNA Testing.


I recently gave a presentation about genealogical DNA Testing: http://dirkschweitzer.net/GeneticGenealogy-DS.pdf, check it out, and please test yourself!
Once you have your test results, feel free to contact me and let me know your test results!


 




 

Why should YOU conduct Genetic Genealogy?

 

Summary:


One can obtain the following Info:

1.) The Y-chromosomal "Haplogroup" = the descent / ancestry of one's paternal / male ancestors / paternity test = patrilinear descent
This gives one information about the geographic origin / descent / deep ancestry of one's direct male / paternal line of descent: Tested Person-Father-Father-Father-Father..... all the way back to the formation / first appearance of anatomically modern human in East Africa, approximately in the highlands of Kenya and Ethiopia, about 200,000 years ago: in other words one learns which Migrationroute the direct male ancestors have taken in their journey from Eastafrica to Europe, or to wherever else on the planet Earth your earliest known ancestor has lived.

2.) The Y-chromosomal "Haplotype" = relationship test / analysis
These are the numbers for the "markers." If one compares the haplotypes of two men, which must be within the same haplogroup, one can as a hobby researcher estimate when the last common ancestor of these 2 men has lived. For this purpose it is better to have more markers investigated, but even 12 markers are often enough to decide if 2 people/men of the same family name descent from the same ancestor, who may be suggested by the paper trail. (research of the pedigree)

3.) The Haplogroup of the Mitochondria = the descent / ancestry of one's maternal / female ancestors = matrilinear descent
This gives one information about the geographic origin / descent / deep ancestry of one's direct female / maternal line of descent: Tested Person-Mother-Mother-Mother-Mother..... all the way back to the formation / first appearance of anatomically modern human in East Africa, approximately in the highlands of Kenya and Ethiopia, about 200,000 years ago: in other words one learns which Migrationroute the direct female ancestors have taken in their journey from Eastafrica to Europe, or to wherever else on the planet Earth your earliest known ancestor has lived.

Yes, the DNA Tests are relativly expensive. However, from the time one orders a test / upgrade, or from the first time one takes one's cells from the cheek of one's mouth, up to the time at which one obtains the results, it always takes 6-8 weeks. Thus, the costs per week are relatively low, and often not more than a visit to, and Cafécito (coffee, mocha, roast, hot chocolate) at, Starbucks.

I ordered my very first Descent-DNA-Test in the Spring of 2005 (2005-04-14), and I am still not done testing all known relatives, in order to find new Y- and mitochondrial haplogroups which are a part of my genetic heritage.

These Descent-DNA-Tests cannot determine paternity, because they cannot distinguish between brothers, cousins, uncles, etc.. A paternity test investigates markers on several chromosomes, while a descent (origin, lineage) DNA test only investigates markers on a single chromosome: the Y-chromosome.

 

Dear Reader, :)

 

● do you want to know your personal history prior to the introduction of family names?


● Are you interested in history and / or archaeology? Do you want to be able to do "personalized history" or "personalized archaeology"? Would you like to be able to say: "I know that my ancestor "a" was present at time "b" on place "c" on planet Earth, and thus participated in historic event "d."?


To learn all of this, you have to study your DNA!


I recommend the following:


● if you are a man: order an "Y-DNA12: 12 Marker Test." This will give you initially enough information to know your 'migration route' ~ 'haplogroup' and 12 markers are a good start to compare yourself with other men. You can always later 'upgrade' to obtain more specialized information.


● if you are a woman: order an "mtDNA Test." This will give you initially enough information to know your 'migration route' ~ 'haplogroup' and it is a good start to compare yourself with others. You can always later 'upgrade' to obtain more specialized information.




Do you want to do two things:

 

(a) learn your personal migration route from the highlands of Kenya and Ethiopia, where anatomically modern human first developed ~ 200,000 years ago, to the place on the planet at which, to the best of your knowledge, your grandparents grew up?

 

This, your own, migration history is not just a "one-way" road, but instead it is an extremely interesting journey influenced by the shifts of climate zones, by conflicts with other groups of people, by the desire to explore new areas on the planet,...

 

(b) find new relatives, whose common ancestor with you may have lived, for example, just a few generations ago?

 

To learn all of this, you have to study your DNA!







Y-DNA


Since the Y-chromosome is only transmitted from a father to his son, mutations are very rare. Therefore, one can classify the Y-chromosomes into "Haplogroups." Using the knowledge of one's haplogroup, one knows one's direct paternal migration history (a).

 

For example, search for your family name here:

 

http://www.ysearch.org/ .





You will probably find people in several different haplogroups, such as E3b, R1b, R1a, O, N, P, Q, K, J2, J1, I, E3a, M, C, G2, I1a, I1b, I1c, L, etc. All of these people took a different migration route, which are indicated by the arrows on the map. Of course, the individual migration routes are much more complex and detailed, but for each individual there is only a single, unique migration route.


My Surname

You didn't find your family name in Ysearch? Well, this just means you can be the first one with your family name / surname to have your DNA tested!

 

How about some famous people, are you related to them?

● Thomas Jefferson (USA President): Y-DNA = K2.

● Joseph Stalin: Y-DNA = G2.

● Bono (U2): Y-DNA = R1b.

 

Each man, that is, Y-DNA dataset, has a "Haplotype," which is the list of its STR values/markers. The haplotype is the collection of the numbers that you see after clicking on an User-ID within Ysearch. Comparing the haplotypes of two people, who must have the same haplogroup, allows one to estimate the time (TMRCA) to their most recent common ancestor (MRCA), in order words, you can find long-missing relatives (b).

 

Average Mutation Rate =

0.00234 1-step Mutations / (Locus x Reproductive Event)

 

For my formula, any n-step mutation (change in the repeat length of the marker by n units) is counted as n 1-step mutations.


 

The Coalescence Time:

Any assembly of haplotypes which are in the same haplogroup is a cluster. There is a common ancestor of all of the haplotypes of the cluster. The time to that common ancestor of all of the haplotypes is the Coalescence Time (CT) of the cluster. The Coalescence Time of the Cluster (CTC) can be estimated to be no more than the second to longest 50 % TMRCA between all the haplotypes included in the cluster.



 



Mt-DNA





A similar investigation is possible for women. Since mitochondria are only transmitted from a mother to her children, it is possible to find out one's direct line of female descent. Thus, one can find out one's direct maternal migration route (a), which is represented by one of the arrows on the map, and one can locate new, previously unknown, close and wide relatives (b).

 

Mitochondrial results are being reported and exchanged here:

 

http://www.mitosearch.org/ .

 

As in the case of Ysearch, Mitosearch is also completely anonymous.

 

How about some famous people, are you related to them?

● Ötzi (Ice man of Italy, found in 1991 in the Alps on a glacier close to the border between Austria and Italy): Mt-DNA = K.

● The last Russian Royal Family (Tsar of Russia): Mt-DNA = T.

● Bono (U2): Mt-DNA = V.

 

There is no need to be worried, haplogroups do not carry any medical relevance.

 

I hope to have made you curious now. :)



The best place to have oneself tested is via FamilyTreeDNA, if one lives closest to the United States of North America.





Otherwise, the best place to have oneself tested is via iGENEA in Switzerland.





Of course, you can also submit DNA sample of your parents, uncles, aunts, children…..

 

Was your wife faithful?

Your DNA result and that of your son must match!

You better check!!!!!
The easiest way to find out, is to do secretly a "Y-DNA12: 12 Marker Test" on you and your (?) son.

 

After testing yourself, don't forget to enter your data into http://www.ysearch.org/ and http://www.mitosearch.org/. This is the most efficient way to get in touch with other people.

 

More info is available here:

http://en.wikipedia.org/wiki/Genetic_genealogy

http://en.wikipedia.org/wiki/Genealogical_DNA_test

http://en.wikipedia.org/wiki/Human_Y-chromosome_DNA_haplogroups

http://www.isogg.org/tree/index.html

http://en.wikipedia.org/wiki/Human_mitochondrial_DNA_haplogroups

http://archiver.rootsweb.com/th/index/GENEALOGY-DNA/

http://groups.yahoo.com/group/DNA-ANTHROGENEALOGY/

 

Genes in Fashion = a good newspaper story

 

Nearly every week, a new, scientific, and often very interesting paper presenting new results within the field of "human Population Genetics / human Population Biology / Genetic Genealogy" is published.

 

Don't you want to be a part of this exciting new development?

 

I am happy to answer questions.


● Feel free to ask me to help you understand your results.


● If your Y-chromosomal haplogroup is E3b (M35+, since 2007-10-21 the correct name is E1b1b1), please do contact me, and please join the worldwide E3b Project. If you had yourself tested via one of the smaller companies, please join the worldwide E3b Project via this link. Thanks. :) There is also a more specialized E3b Project, some of whose members are not at the same time also members of the worldwide E3b Project.


● If you are of the Jewish Faith, regardless of your DNA testing results, please do contact me.


● If you are worried about your privacy, please perform your DNA testing through the Genographic Project, since it is completely anonymous.


● If your surname / family name is Kogel or a variant thereof, such as Kogel, Gogel, Cogel, Kokel, Kugel, Kukel, Kugen, Kuken, Gokel, Cokel, Kohel, Gohel, Cohel, Kogen, Gogen, Cogen, Koken, Goken, Coken, Kohen, Gohen, Cohen, and Cohila, please do join the worldwide Kogel Family Name DNA Project, in order to test the hypothesis that all Kogel's worldwide descent from a common founder. Since 'Kogel' is a very rare surname, however present in many countries (USA > 12x, Germany > 2x, Sweden > 1x, the United Kingdom > 2x, the Netherlands > 6x, Belgium > 2x, Costa Rica > 7x, Spain > 1x), it is likely that there was a single founder several 100's of years ago, whose descendants were then forced to leave the original country in which the person lived, who first carried the family name 'Kogel.' Regradless in which country you currently live or your religious affiliation, please join this project and have your Y-DNA tested. :) Anyone who has co-workers, neighbors, friends, or relatives with the family name "Kogel", please tell them or your brother, father, or husband about this project. :)

 

● Here are very informative maps, showing the worldwide distribution of Y-DNA and mitochondrial haplogroups. Check out the worldwide occurrences of the following haplogroups: Y-DNA = E3b, Mt-DNA = J, and Mt-DNA = T. Of course, each haplogroup contains several distinct 'subhaplogroups,' with each of which having its own distribution among different peoples on Earth and its own, distinct migration history.

 

● In a somewhat populistic approach, Professor Bryan Sykes, who is a professor of human genetics at the Institute of Molecular Medicine at Oxford University in England (United Kingdom), has assigned different female "clans," identified by their first names, to different haplogroups, which he calls "clades." In 2001 he assigned "The Seven Daughters of Eve" as follows: Clan Velda = mtDNA haplogroup V, Jasmine = J, Xenia = X, Tara = T, Helena = H, Ursula = U, and Katrine = K. These seven haplogroups were chosen because they represent most of the mitochondrial gene pool of Europe. Clan Ursula in Sykes' opinion is composed of the following clans and clades: U1 = Una, U2 = Uta, U3 = Uma, U4 = Ulrike, U5 = Ursula, U6 = Ulla, and U7 = Ulaana. Other "clan mothers" are Fufei, Ina, Aiyana/Ai, Yumi, Nene, Naomi, Lara, Lamia, Lalamika, Latasha, Malaxshmi, Emiko, Gaia, Chochmingwu/Chie, Djigonasee/Sachi, Makeda, Lingaire, Lubaya, Limber, Lila, Lungile, Latifa and Layla. These "mothers of the clans" all descent from the "Mitochondrial Eve."
Similarly, he has assigned different Y-DNA haplogroups to different "Ancestral Clan Fathers" as follows: Clan Amadlozi = Y-DNA haplogroup E3a?, Baatsi = H?, Maui = A?, Thang-la = C?, Eshu = E3b, Gilgamesh = J1?, Himalaya = O?, Wodan = I, Re = J2, Roman = G, Sigurd = R1a, Lhotse = L?, Mandala = M?, Nentsi = N?, Yi = D?, Quetzalcoatl = Q?, and Oisin = R1b. Some of these names were introduced in his 2006 book "The Blood of the Isles" or called "Saxons, Vikings and Celts: The Genetic Roots of Britain and Ireland" when sold in North America.



The best place to have oneself tested is via FamilyTreeDNA, if one lives closest to the United States of North America.





Otherwise, the best place to have oneself tested is via iGENEA in Switzerland.





 

Good Luck, Dirk :) View Dirk Schweitzer's profile on LinkedIn

Y-DNA = E1b1b1a3* [formerly E3b1a3*] [(M96+)-(P2+)-(M35+)-(M78+)-(V22+)-(M148-)-(V19-)]

Mt-DNA = J2

Y-DNA of maternal grandfather = E1b1b1a2* [formerly E3b1a2*] [(M96+)-(P2+)-(M35+)-(M78+)-(V13+)-(V36+)-(M224-)-(V27-)]

Mt-DNA of paternal grandmother = T2

E3b-M78-V22 is best described as a nilotic haplogroup, since it underwent several thousand years ago a huge increase in its percentage of the population in Egypt. :) Maybe one Pharaoh was or some of the Pharaohs were of haplogroup E3b-M78-V22? I hope the Y-DNA of mummies will be tested soon. :) Cruciani et al. reported in Molecular Biology and Evolution 2007, 24(6), 1300-1311 the following distribution of E3b-M78-V22 [E3b1a3*] among different populations: Macedonians: 1 %, Northern Egyptians: 17 %, Palestinians from Israel: 7 %, Turks in Istanbul: 6 %, but not detected (< 0.5 %) in other regions of Turkey, Italy: ~ 2 %, Southern Spain: ~ 3 %, Morocco: some Berber groups up to 3 %, some groups of Arabs up to 7 %, and Moroccan Jews 8 %, and in the Greeks from the Aegean Islands: 1.4 %. In contrast no E3b-M78-V22 was detected (< 0.5 %) in the following European populations: French, Danish, Germans, Polish, Czechs, Slovaks, Slovenians, Estonians, White-Russians (Belarus), Russians, Ukrainians, Moldovians, and Hungarians. The presence of some E3b-M78-V22 in the Balkans can easily be explained by the hypothesis that some V22's, together with many E3b-M78-V13's [E3b1a2*] and J-M12's [J2b], entered the Balkans from Anatolia with the Neolithic Revolution (Introduction of agriculture: the farming of domesticated crops and animals, living in permanent villages, and the usage of pottery.) at 10,000 - 7000 B.C.E. and later expanded there. All other places/populations at which E3b-M78-V22 occurs within Europe are in agreement with its introduction into the European Haplogrouppool via the Roman Diaspora after 70 C.E.. Private people/researchers, whose Y-DNA is confirmed to be E3b-M78-V22 positive, are listed in the yellowish section of the E3b Project. As of now, their most-distant-known-by-papertrail-ancestors come from the following countries (in alphabetical order): Chile (1 x), Czech Republic (1 x), England (2 x), Germany (1 x), Hungary (1 x), Italy (1 x), Poland (1 x), Portugal (1 x), Unknown (1 x), and White-Russia (1 x). Of all of them, I was the first one whose DNA testing result was revealed, thus, I am the first E3b-M78-V22 from North of the Alps. :)

Here are several papers about mitochondrial haplogroup J2: a very good summary, this one shows that mt-DNA = J2 first went from Africa to the Fertile Crescent (Middle East) and from there to Persia, and then to the central-asian plains and to central Asia, and from there to Europe. Some mt-DNA = J2 possibly "traveled" with the Vikings, because it is present in many costal regions, even in Southern Europe. "Traveled" is another way of saying that some Viking men kidnapped / took as wifes (and also as slaves) some J2 women / girls while on their raids in Eastern Europe / Russia.



New Research Results:


● The oldest known fossils of anatomically modern humans (Homo sapiens sapiens) were found in East Africa. They have an estimated age of 200,000 years.


● The coalescence time of the currently known human mitochondria pool (of the DNA therein) is about 200,000 years.


● In contrast, X-chromosomes which are a part of the currently known human X-chromosome pool have left Africa about 366,000 years ago.


● The coalescence time of the currently known human Y-DNA pool is about 65,000 years.


● There are historical records that some Roman soldiers were taken prisoners of war after a lost battle in Persia. Some of these soldiers are said to have 'wandered' East into China and were settled in a village called "Liqian" which is located in what is now Gansu Province. Liqian has a long oral and also written tradition of its people descending from Roman soldiers. Also, some of the people of Liqian have blonde hair, green eyes, and European facial features. Here is a good article about Liqian. A study of the Y-DNA of 87 inhabitants of Liqian was recently published. Interestingly, 4 individuals were found to be in haplogroup DE (YAP+) and 1 person was found to be in haplogroup R1a1 (M17). It would have been nice if the Chinese authors had tested more SNPs to pinpoint the specific haplogroup of the tested people, but as one can imagine these Chinese "scientists" were out to show that Liqian does not have any "Roman mercenary origin."


● In case you have yourself already tested via the Genographic Project, please log into your account at National Geographic, go to the section at the bottom of the page labeled "What else can I do with my results?" and click on the "Learn More" Link to follow the simple instructions to transfer your results to FamilyTreeDNA.

Since FT-DNA does the DNA testing for the Genographic Project, transferring your results to them so that you can study your DNA in more detail (more markers, test SNPs, test HVR I & II, test if you have the CCR5-Δ32 deletion, which can protect you from AIDS / HIV, etc.) is the most logical thing to do. More DNA tests are necessary to find wide, as of now unknown, relatives. After having established your FT-DNA account, please join different projects and if you are predicted to be of haplogroup E3b, you MUST join the world-wide E3b Project. :)














 

 

 

 

 

 

 

The knowledge of one's haplogroup is as important as the knowledge of one's blood group.

 

The one who doesn't know his/her history, is like a ship without a rudder or like a tree without roots.

 

 

Copyright: Dirk-Ec, 2006-11-21

www.dirkschweitzer.net

Copyright © Dirk Schweitzer, Ph.D.
Department of Chemistry
University of Notre Dame
Notre Dame, Indiana, U.S.A.
2005 - 2007 C.E.
All rights reserved.





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