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Haplogroups: What Are They And Why Are They Important?
An extract from FTDNA news letter

By now we know that a 12 or 25 marker Y-DNA signature is called a Haplotype, and when we add other closely linked haplotypes together they ultimately form a Haplogroup…but what is a Haplogroup and why is it important?

Haplogroups represent the branches of the tree of Homo Sapiens. The branches of the tree of Homo Sapiens stitch together and every male in the world can be located on one branch or another by a test that looks for a rare mutation on the Y chromosome. The nickname for the testing procedure is SNP and it is pronounced as it appears.

Anthropologists follow SNP’s to determine ancient migratory patterns and deep ancestral dating when trying to establish when, for example, Western Europe was first settled, generally in conjunction with other disciplines, like field Archeology.

I know many of you who have corresponded with me think I only answer emails and don’t have time to read…well my book reading level isn’t at an all time high, but recently I had the opportunity to view the video and read the book: The Journey of Man by Spencer Wells.

Frankly the video was very good and the book was even better. In the book Wells does a nice job explaining concepts such as genetic drift and Ockham’s Razor (from William of Ockham in the fourteenth century). His explanations of how mutations develop and are then passed on to subsequent generations were very easy to follow, and in fact I would have been quite satisfied had he not taken this one step further and explained this all by following SNP’s around the globe as Homo Sapiens emerged from Africa. By providing an estimate of the most likely time (and ranges) for the splits in the tree of Homo Sapien he’s helped colorize pre-history for us non-science majors.

It you want to know more about our ‘deep ancestry’ view the video , but if you want to gain a good appreciation for the splitting into branches of the tree of Homo Sapiens, (seen here: http://www.ftdna.com/haplotree.html ) read the book! Both can be found at http://www.familytreedna.com/books.html.

Bennett Greenspan CEO and Founder, Family Tree DNA
 

There are four basic groups that can be identified by DNA.

Native American: Populations that migrated from Asia to inhabit North, South and Central America.
 
European: European, Middle Eastern and South Asian populations from the Indian subcontinent, including India, Pakistan and Sri Lanka.
 
East Asian: Japanese, Chinese, Mongolian, Koreans, Southeast Asians and Pacific Islanders, including populations native to the Philippines.
 
African: Populations from Sub-Saharan Africa such as Nigeria and Congo region.

AncestryByDNA from genetree.com can be used to determine the percentage of DNA a person has from each four groups, the test examines 175 Single Nucleotide Polymorphisms (SNPs). These 175 SNPs have been selected based on their bio-geographic polymorphism patterns, and are referred to as Ancestry Informative Markers (AIMs). The alleles found at these marker locations show very high specificity for people from particular populations, ethnicity and/or geographical regions.

The mtDNA Haplogroups:

a) mtDNA macro-lineage L is predominant in Africa, L1, L2, and L3 - Found in Sub-Saharan African lineages.

b) mt-DNA macro-lineages M and N are found throughout Eurasia and Australia.

c) mtDNA lineages H, I , J, K, T, N, U, V, W and X are predominant in West Eurasia, H, I, J, K, T, U, V, W and X - Found in nearly all lineages from Europe, North African and Western Asian Caucasians.

d) mtDNA lineages A, B, C, D, E, F, G, M, P, Q and Z are predominant in Asia and Oceania, and

e) mtDNA lineages A, B, C, D, and X are found in the Americas.

Y-chromosome Haplogroups:

An individual that has a very old DNA lineage can usually be identified to a continental region such as Western Europe. Younger lineages can be identified to more specific regions, such as Southwest North America. Very young Y-chromosome lineages could provide even more detailed, population specific information.

B, E: are found in Sub-Saharan African lineages.
E, G, H, I, J, and R are found in lineages from Europe, Middle East, and Western Asia.
C, D, N, O, Q, and R are found in the the Asian populations.
P, Q, and F are found in Native American lineages.

NOTE: Some haplogroups are present in both Europe and Asia, but can often be sub-divided into European or Asian specific lineages.


Understanding Your Results: Y DNA
An extract from FTDNA news letter

If you are among the first persons to take a Y DNA test for your surname, often you will not have any matches. This may be disappointing, though it is only a matter of time until you have a match. When you don't have any matches, the best approach is to find some other males with your surname to test. To validate your lineage, it is recommended that you test the most distant cousin in your family tree. His result should match, or be an extremely close match, to your result. This step of testing another male in your family tree will scientifically validate your result.

On the other hand, you may have a lot of matches with other surnames, especially if you are Haplogroup R1b, and you are testing only 12 Markers.

It is very tempting to pursue these matches with other surnames, in the hope of finding a lost relative from the family tree. Matches with other surnames are most likely not relevant in a genealogical time frame.

If we consider for a moment: how many males had your Y chromosome result, or a close result, in the 1300's, when surnames were being adopted. This figure could be in the hundreds, if not in the thousands. Each of these males, or small groups of males in a family unit at the time, probably adopted a different surname. These males were probably also spread out geographically.

If we take this group of males who adopted hundreds of surnames in the 1300's, and then consider that each surname probably took on multiple forms through the centuries until the 1900's, plus factor in the number of possible male descendents today - we have a very large number of surnames that could share a Y DNA result.

Most people in England adopted surnames by 1400, which is a little over 600 years ago. In a time frame of 600 years, depending on the figure used for years per generation, we would expect between 20 to 24 generations to have occurred, at 30 years per generation or at 25 years per generation. The current mutation rate estimated for the Y DNA Markers by the scientists is 1 mutation every 500 generations per Marker. For a 25 Marker test, we would expect 1 or maybe 2 mutations if two people were related in the 1400's, in the time since surnames were adopted.

Most likely a match with another surname is the result of being related before a genealogical time frame, or as a result of convergence. Convergence is where Y DNA results mutate over time, and as a result of changes, these two results now overlap.

Depending on your ancestral country, and the surviving records, your family tree may be traced back to the 1800's, 1700's, or 1600's, and for a few rare family trees, to a time well before then. If a 25/25 match with another surname is a result of a family taking in an orphan in 1425 - you will probably never find the paper record, if a paper record ever existed, and pursuing the match takes valuable time away from traditional family history research.

As more people take a Y DNA test, you will eventually have matches with other surnames. For a 12 Marker test, the total range of generations for relatedness is 76.9, which is almost 2000 years, and well before the adoption of surnames. Those who belong to Haplogroup R1b will have many matches with other surnames, in fact dramatic population expansion within Haplogroup R1b lead our science team to clearly see the need to expand our original test from 12 to 25 markers.

We recommend not pursuing matches with other surnames, unless there is some genealogical evidence to support such a match. For those interested in pursing the match, an upgrade to 37 Markers is recommended. Even at 37 Markers, you may have matches with other surnames, especially for Haplogroup R1b, and as a result of convergence. In rare cases, the match could indicate an unknown variant of the surname.

DNA testing is a tool to be used with your family history research. DNA testing provides additional information which is evaluated in conjunction with your family history research. If you have researched your family tree to the mid 1800's, pursuing a match with another surname that might have occurred from 1400 to 1800 is probably not the best investment of time.

Matches with other surnames can have value for those who are not R1b, and whose ancestors have migrated and they are trying to identify the county of origin in the ancestral homeland. People frequently moved in the past, though often the distances were not very far per generation. Therefore, a cluster of your Y Chromosome and close matches would exist in the ancestral county. For those whom you match with another surname, these matches can often be used to identify the ancestral county. If you are able to find enough matches who know their ancestral county, and one county is reported by a high percentage of matches or close matches with other surnames, you would have a clue as to the ancestral county.

It is very tempting to pursue matches with other surnames, in the hope of finding a lost relative from the family tree. Matches with other surnames are most likely not relevant in a genealogical time frame.

Y DNA Surname Projects: Public or Private

Only customers who have signed a Release Form participate in matching at Family Tree DNA. For those who belong to a Surname Project, the Public/Private setting is very important. The Public/Private setting only applies to Y DNA Surname Projects, and does not apply to those who do "not" belong to a Surname Project.

For a detailed explanation of the Public/Private setting, please see the following issues of Facts & Genes:

http://www.familytreeDNA.com/facts_genes.asp?act=show&nk=2.3

http://www.familytreedna.com/facts_genes.asp?act=show&nk=2.1
 


3/1/2005 - Kit arrived at FTDNA  - with this info provided.

Our tests meet the highest standard for precision and reliability which requires individual verification by very skilled professionals. Therefore, typical times between the time when the kit goes to the lab for processing and the availability of results is:

12 Marker Y-DNA - 4 weeks
25 Marker Y-DNA - 6 weeks
37 Marker Y-DNA - 6 weeks
12 to 25 Marker Y-DNA Upgrade - 4 Weeks
12 to 37 Marker Y-DNA Upgrade - 4 Weeks
25 to 37 Marker Y-DNA Upgrade - 2 Weeks
mtDNA Tests - 5 Weeks

kits go to the lab in batches every 2 weeks.

Times above are for tests that have a successful outcome from the first run at the lab. Approximately 85% of the first runs are successful. The tests are rerun on the other 15% until a good result is obtained.

Unfortunately, each rerun adds two weeks to the process.

We understand that the delay is frustrating to participants. When a delay occurs, your sample is being rerun as many times as it takes to achieve a successful result.


 Reading Files - Correspondence with Family Tree DNA


Third Question to Familytree DNA: At 02:01 PM 7/27/2004 -0400, I wrote:


 
Hi, its olbother again:  My sister is still living, would she need to be the one to do the MtDNA test?  Which package do I need to buy for her?  Are you saying I should do the haplogroup tests to get the German / Scandinavian question out of the way?

Then I also need to do
, what test to trace my fathers line back past 1648?  That should match back 13 or 14 generations.  Please tell me specifically which package(s) I need to buy from your web page for me.

Thanks - that should do it.

----- Third Answer -----
From: Catherine/FTDNA [mailto:cmcd@familytreedna.com]
Sent: Tuesday, July 27, 2004 3:44 PM
To:
Subject: RE: DNA test price web page is confusing


Dear Edward-

Both men and women can take the mtDNA test.  

The better price option is for you to take both the tests to receive a bundle price.  

To find out your father's deepest ancestry, either German or Scandinavian and to find out if you have any matches you could take a Y-DNA 12. 

To determine if the first female on your mother's line was Native American you'd also need to take an mtDNA test.  

Those two tests together cost $319.  The price for the separate tests is Y-DNA 12 $159 and the mtDNA test is $219 so you save $60.

(Ed note 3/1/2005 - prices have changed - refer direct to FTDNA for current prices or thru one of the group "oghgul" or "Ogle")

If you have any more questions please email me agian, Catherine
 

Second Question to Familytree DNA:  At 06:14 PM 7/26/2004 - 0400, I wrote:

 
Thanks for your reply, I need a specific start-to-finish path which includes the following:

I need to trace a link back past a John from England (1648) to find his English family,

I also need to know from that point back if our ancestry is German (Saxon) blood or if it is Scandinavian (Viking).  There is also the question if the Angles in Anglo/Saxon (449 AD) is main line Germanic or Scandinavian.

There is also the rumor that our Betsy Wahninto was indian, so I want to know if American Indian is present.

Thanks

----- Second Answer -----
From: Catherine/FTDNA [mailto:cmcd@familytreedna.com]
Sent: Tuesday, July 27, 2004 9:31 AM
To:
Subject: RE: DNA test price web page is confusing


Dear Edward,

Our tests cannot give you a definitive path to trace back beyond surnames.  The technology is relatively new and are not to the specific levels that you are seeking. 

In regards to the German or Viking blood that could be determined through the haplogroup tests but could not be pin pointed exactly in history at a specific date.

I believe I explained the limits with the mtDNA testing in reference to Betsy Wahnito.

Thank you for your questions and have a nice day, Catherine

 

First Message to familytree DNA: At 10:53 AM 7/26/2004 - 0400, I wrote:

 
The DNA test prices seems to be geared to nothing more than making money for your company, and yes I know all the Cliches about being in business.

I believe this to be an excellent idea, the problem is, if more people see the priceing as I see them it may prove a failure of your company, I would not like this idea to die on the vine, so to speak.

A close reading shows that a number of test must be done to reach the final needed result, this adds price upon price and after awhile it becomes real money.

You need to modify your web into package blocks that clearly shows a direct path to the end and the final price.  That way people dont feel they are being fooled.

For instance I need to trace a link back past a John from England (1648)to find his English family, but I also need to know from that point back if our ancestry is German (Saxon) blood or if it is Scandinavian (Viking).  There is also the question if the Angles in Anglo/Saxon (449 AD) is main line Germanic or Scandinavian.

There is also the rumor that our Betsy Waninto was Amerindian, so I want to know if American Indian is present.

You see my delima and my need for a better start-to-finish path to be listed.


Edward G. Ogle Sr.
2706 Hollyridge Dr.
Orange Park, FL  32073
Phone  904-264-4334
 

----- First Answer -----
From: Catherine/FTDNA [mailto:cmcd@familytreedna.com]
Sent: Monday, July 26, 2004 4:18 PM
To:
Subject: Re: DNA test price web page is confusing


Dear Edward,

If you're interested in finding the deepest ancestry on your father's father's father's line than the simplest test, the Y-DNA 12 test, would suffice.  It will tell you which haplogroup the first male ancestor came from.

The mtDNA test follows female lines.  So if the person in question has Native American mother's line was descended from was female and passed her mtDNA to a female and then that was passed on etc it would show up.

If you have any other questions please let me know, Catherine

Catherine McDonald
Family Tree DNA http://www.familytreedna.com
"History Unearthed Daily"
713-868-1438


2/17/2005:  Received the DNA materials from Family Tree DNA. 

The First and Second pages that came in the DNA collection package are shown below. 

My first contacts with FTDNA folks, First & Second e-mail, the Second e-mail convenced me to purchase the package.  This may also help you decide if you want to join in.

   Dear Fellow Genealogist:

Welcome to the exciting world of Genealogy by Genetics!

Family Tree DNA has pioneered the use of DNA testing in the field of genealogy, providing a new way to break through barriers in your family history. The genetic tests that we offer can determine relationships with a 99.9% degree of accuracy!

Having tested several thousands of people since our inception, Family Tree DNA currently has the largest database that enables people who match each other to be in touch, helping to uncover common ancestors. While a family tree can be built out of a paper trail, the actual way of verifying relationships can only be done by DNA testing. Many times similar family names do not imply the existence of a true relationship and the sharing of a common ancestor. On the other hand, many people with different surnames have found to be related through DNA testing. This is why more and more people are testing with Family Tree DNA. The testing includes having your results added to our database. While the surnames databases that are available to us on the Internet and Public Libraries will continue being a basic tool for genealogical research, the DNA Database Library will grow exponentially to become the ultimate resource for the confirmation of relationships.

Another advantage of testing with Family Tree-DNA is that we keep your DNA stored for 25 years - at no charge -whether to check on additional markers that are discovered, in order to more precisely determine the time frame to a common ancestor, or to make it available for any other tests that you, and only you, may want to request.

Family Tree DNA follows the most stringent guidelines for privacy: we control the DNA Database Library and test scores, while the Arizona Research Labs located on campus at the University of Arizona controls and maintains your genetic assets on our behalf, safely storing it in a locked refrigerator. Therefore, there is a dou ble safety net.

Please return the kit back at your earliest convenience. As you begin your journey into the exciting world of Genetic Genealogy, you will join many others who have utilized this new technology to make discoveries about their ancestors, and you may find others to whom you are related. As soon as your results are placed in our matching system, you will be able to see if there is anyone who matches your result.

Thank you for being part of the genealogical revolution!

Bennett Greenspan, President and Founder Family Tree DNA

Family Tree DNA -Genealogy by Genetics, Ltd. 1919 North Loop West, Suite 110 Houston, Texas 77008, USA Phone: (713) 868-1438 I Fax: (713) 868-4584 I E-mail: info(ii)FamilvTreeDNA.com http :1 Iwww .familytreedna.com


  DNA Collection Method                 Instructions

Please Note--Read this entire sheet before you begin your specimen collection. Scraping should be before eating or drinking, or at least an hour after eating and drinking. ** Scraping sounds bad but there are no actual cuts or abrasions, Ed **

Avoid warm or hot fluids before scraping.

1. We have supplied two swab kits and collection tubes to insure accuracy

2. The number on your tube should correspond to the number on your Release Form and the plastic bag.

3. With clean hands carefully open the plastic wrapper without damaging the scraper.

Keep the plastic bag that has your kit number to put the tubes back after the collection.

4. Using one cheek scraper, scrape forcefully inside the cheek many times (about 60 seconds). A great scrape gives us a great sample! A weak scrape will yield less DNA and may cause several weeks delay.

5. Remove the small specimen tube marked with your kit number and the letter A.  Unscrew the top and gently push on the plunger at the top of the applicator stick, ejecting the scraper into the tube, just under the soapy solution. (Please do not jam the scraper to the bottom of the tube … it is difficult to retrieve)!

6. Remove the plastic aplicator handle leaving the scraper tip in the tube.  Twist the cap onto the tube securely.   The tube must be shut tightly to insure the quality of your sample. The tube with the scraper tip inside should be left at room temperature. However, it will not be harmed by winter or summer temperatures when sent by regular mail.

7. Wait 8 hours and repeat steps 4 to 6 using the second scraper and the tube marked with your kit number and the letter B.

8. Put the tubes inside the plastic bag that has your kit number. Insert the plastic bag and the release form in the self-addressed envelope provided, and send the DNA samples back via US Mail (postage within the US is 49 cents).  If payment has not yet been made, please make sure to write the Kit AND Invoice numbers on the check.  This will ensure that payment is correctly assigned to your order.

Family Tree DNA -Genealogy by Genetics, Ltd.
1919 North Loop West, Suite 110 Houston, Texas 77008, USA
Phone: (713) 868-1438 -- Fax: (832) 201-7147
info@FamiIyTreeDNA. com


  ----- First Answer -----
From: Catherine/FTDNA [mailto:cmcd@familytreedna.com]
Sent: Monday, July 26, 2004 4:18 PM #First e-mail
To:
Subject: Re: DNA test price web page is confusing


Dear Edward,

If you're interested in finding the deepest ancestry on your father's father's father's line than the simplest test, the Y-DNA 12 test, would suffice.  It will tell you which haplogroup the first male ancestor came from.

The mtDNA test follows female lines.  So if the person in question has Native American mother's line was descended from was female and passed her mtDNA to a female and then that was passed on etc it would show up.

If you have any other questions please let me know, Catherine

Catherine McDonald
Family Tree DNA http://www.familytreedna.com
"History Unearthed Daily"
713-868-1438

First Message to familytree DNA: At 10:53 AM 7/26/2004 -0400, I wrote:

 
The DNA test prices seems to be geared to nothing more than making money for your company, and yes I know all the Cliches about being in business.

I believe this to be an excellent idea, the problem is, if more people see the priceing as I see them it may prove a failure of your company, I would not like this idea to die on the vine, so to speak.

A close reading shows that a number of test must be done to reach the final needed result, this adds price upon price and after awhile it becomes real money.

You need to modify your web into package blocks that clearly shows a direct path to the end and the final price.  That way people dont feel they are being fooled.

For instance I need to trace a link back past a John from England (1648)to find his English family, but I also need to know from that point back if our ancestry is German (Saxon) blood or if it is Scandinavian (Viking).  There is also the question if the Angles in Anglo/Saxon (449 AD) is main line Germanic or Scandinavian.

There is also the rumor that our Betsy Waninto was indian, so I want to know if American Indian is present.

You see my delima and my need for a better start-to-finish path to be listed.


Edward G. Ogle Sr.
2706 Hollyridge Dr.
Orange Park, FL  32073
Phone  904-264-4334
 


 ----- Second Answer -----
From: Catherine/FTDNA [mailto:cmcd@familytreedna.com]
Sent: Tuesday, July 27, 2004 9:31 AM
To:
Subject: RE: DNA test price web page is confusing


Dear Edward,

Our tests cannot give you a definitive path to trace back beyond surnames.  The technology is relatively new and are not to the specific levels that you are seeking. 

In regards to the German or Viking blood that could be determined through the haplogroup tests but could not be pinned pointed exactly in history at a specific date.

I believe I explained the limits with the mtDNA testing in reference to Betsy Wahnito.

Thank you for your questions and have a nice day, Catherine

Second Question to Familytree DNA:  At 06:14 PM 7/26/2004 - 0400, I wrote:

 
Thanks for your reply, I need a specific start-to-finish path which includes the following:

I need to trace a link back past a John from England (1648) to find his English family,

I also need to know from that point back if our ancestry is German (Saxon) blood or if it is Scandinavian (Viking).  There is also the question if the Angles in Anglo/Saxon (449 AD) is main line Germanic or Scandinavian.

There is also the rumor that our Betsy Wahninto was indian, so I want to know if American Indian is present.

Thanks

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