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Y-DNA Research Material 

Revised 8/27/2010

Please observe copyright notices. Even without notices, material may not be posted or published without identifying the author.  

(The International Society of Genetic Genealogy)  For Newbies NEW 7/2010

 

FTDNA Provided web pages and articles:

ISOGG   (The International Society of Genetic Genealogy)  For Newbies   ISOGG WIKI Welcome page  NEW 7/2010

 

Wikipedia..."The Genealogical DNA Test"   an excellent overview of the testing available

Genetics & Genealogy - An Introduction  With Some DNA Case Study Examples  By Charles F. Kerchner, Jr.

Time to Most Recent Common Ancestor - how calculated-

 

When your Y-DNA does not match as you expected

Inherited Genes

Haplogroup articles:

 

 

When Your Haplogroup is not what you expected - a non-technical explanation 

Draft 3/31/2006; changes 4/1/2006, 4/26/2006,5/22/06

Much of the below has been reviewed by FTDNA

  

I know many of you continue to be perplexed with your haplogroup as projected or tested by FTDNA.  After considerable thought and review with their office, I would like to offer some thoughts – all in a very non-technical and imprecise way.  I have discussed this with FTDNA.  Corrections by them may follow.

 

How does FTDNA predict or estimate your haplogroup? 

If you do not pay for a haplogroup test, FTDNA will  predict your haplogroup based on a comparison of your Family Tree Y-DNA results with the world-wide database of Dr. Hammer and customers who have had their SNP actually tested by FTDNA. My experience is that they will predict your haplogroup if your Y-DNA values match well with someone else who has been haplogroup tested.  If you receive a "prediction" FTDNA states "for any predicted results we see no reason for ordering a SNP test to confirm the Haplogroup." In other cases they state if you want to know your haplogroup "with 100% confidence" you will have to order a SNP confirmation test.   In all cases, if one of your closely matching family pays for that SNP test, you can be assured his haplogroup will be yours.  Of course, you may still choose to take the SNP test.   

 

What tests can I order to confirm FTDNA's prediction?

FTDNA has begun offering  "Deep Clade tests" which goes deeper into different haplogroups. You can read more about this when you log on and view your haplogroup.   

 

A more standard haplogroup test is also availlable.  You will know which test you can order by looking at your Haplogroup tab on your personal page at FTDNA

You may see the option of a "Backbone SNP" or a "deep clade test".  If there is any confusion I would definitely talk to FTDNA.   It appears that FTDNA's current haplogroup testing may be more detailed than in 2005.    

 

Comments on haplogroups E, F, G and R1b1  [Possibly outdated considering the new haplogroup classifications]

As people moved out of Africa over tens of thousands of years, their haplogroup definitions (as now defined) changed due to DNA mutations.  As some migrated, for example, theirs mutated and became what is now described as G, becoming "something of a pan-Indo-European haplogroup. G arose in Pakistan, but lineages of it migrated into Europe and spread from there....  G, in fact, is the third most common haplogroup in our database among individuals reporting origins in England... F* is so old that it can be found throughout Europe as well; it is just so uncommon to find it, that there are no places that can be said to contain the most F* lineages..  We only have a few F*s, but they are coming from Germany, the Netherlands, Scotland, and the UK. "  As others moved toward England heir's is now seen as R1b1 or I (the second most common haplogroup).  Some stayed in Africa and mutated to what is now seen as E3, E3a, (reclassified now as E1a or E1b1a), A or B,  or even C - although E3 (reclassified now as E1a) is “virtually unseen outside of Africa.   

It is entirely possible that an African E3 (reclassified now as E1a) moved singly into England in the 1700s, took up an English surname and moved to America.  But that would be very unusual.    The same applies to all the other “non-European” haplogroups.   As we discus this, we have to use the words  like “usual”, “typical”, “expected”, “probable” and other imprecise words to describe where one would expect to find these haplogroups today – or in our genealogy work, where our ancestors came from.

 As you match against others at your FTDNA personal page, remember that when you see someone you match well with and see his “country of origin” it may well have been a guess when he filled in the paperwork.  You may have guessed yourself, knowing full well you had no proof.  So don’t take that country of origin as solid information until it can be confirmed.

 

Clearly all of us Phelps have always assumed our country of origin was England. Some of us have not been designated the R1b1 (or a variation of that) which we expected. Some of us are F, G, and E3 (reclassified now as E1a) or a variation of those.  So what are we to make of that?   Clearly R1b1 is what one would expect if in fact one’s ancestors came from England.   If you were not R1b1, that is not to say your ancestors did NOT come from there, but it is to say they probably did not.  If you received a R1b1 you have a fuzzy warm feeling that your ancestors did in fact come from there.  "R1b1 is the most common haplogroup found in Western European populations and is found throughout the continent.  As a result, being in haplogroup R1b1 does not prove that a person comes from England; matching at a high level with people who can trace their ancestry definitively back to England would on the other hand indicate English origins."  But if you did not have a haplogroup as described above, then your ancestors probably did not come from there at all.  Oh, yes, perhaps an E3 (reclassified as E1a) haplogroup in the year 1050 moved from with the Moors to Spain and then to England or America, but that is certainly unusual.  For practical purposes of genealogy we must first look at the most likely country of origin and that is the area described by your haplogroup.  It is simply very hard to get around this, it seems to me.  I agree that these mutations took tens of 1000s of years, but as I understand it, the people in those areas described by the haplogroups typically today have that haplogroup value.  

 

 

 

E1a1 and E1b1a Haplogroup information

Revised Edited 5/2010, 9/2008, 4/2009

 

In human genetics, Haplogroup E1a (M33) is a human Y-chromosome DNA haplogroup.    Haplogroup E1a, along with haplogroup E1b, is one of the two main branches of the older E1. The E1a clade is divided into two subclades: E1a1 and E1a2.

 

E1a1 is now the presumed haplogroup of one major line of about 16  Phelps (James Phelps of Caswell,  Thomas Phelps of Albemarle Co, and Thomas Felps of Baltimore Co, MD.)  Their YDNA markers also match extremely well.  In other words enough members were SNP tested and were found positive for M96 and M33, the indicator for E1a.   There were enough tested members to allow FTDNA to predict the E1a or E for other members of these three lines (They do not take paper trails into consideration).

 

 

E1a:   E1a (M33) is found most often in West Africa, and today it is especially common in the region of Mali. One study has found haplogroup E1a-M33 Y-chromosomes in as much as 34% (15/44) of a sample of Malian men, including 2/44 E1a1-M44 and 13/44 E1a-M33/M132(xE1a1-M44).[5] In particular, the Dogon people of Mali have been found to carry haplogroup E1a-M33 with a frequency as high as 45.5% (25/55), making it the most common Y-DNA haplogroup in this population.[2] Another study has found haplogroup E1a-M33 in 15.6% (44/282) of a pool of seven samples of various ethnic groups in Guinea-Bissau.[3] Haplogroup E1a also has been found in samples obtained from Moroccan Berbers, Sahrawis, Burkina Faso (including E1a-M33/M132(xE1a1-M44) in 2/20 = 10% Fulbe and 2/37 = 5.4% Rimaibe[1]), northern Cameroon (including E1a1-M44 in 9/17 = 53% Fulbe and E1a-M33/M132(xE1a1-M44) in 3/15 = 20% Tali[1]), Senegal (7/139 = 5.0%[6]), Ghana (1/29 = 3% Ga, 1/32 = 3% Fante[2]), Sudan (including 5/32 = 15.6% Hausa and 3/26 = 11.5% Fulani[4]), Egypt,[7][2] Calabria (including both Italian and Albanian inhabitants of the region), Italians from the province of Trento in northeastern Italy,[8] and Romanians from Constanţa.[9]

The small presence (<4%) of Haplogroup E1a in North Africa and Europe is considered to be due to influence from West Africa, perhaps via the slave trade, because this haplogroup has been found most frequently in samples of West African populations.

 

New research on E1a1 is being done at a related FTDNA project and at DNAforums - with tested men indicating origins in other areas in the Mediterranean area. This is a very rare haplogroup breakout, due to the underlying likely numbers and the test costs.

 

 

E1b1a is the" presumed" haplogroup (according to FTDNA) of a line back to John of Goochland, VA.  While no member has had SNP testing to prove the haplogroup, FTDNA has enough experience with the YDNA markers to comfortably predict the haplogroup of E1b1a.

 

E1b1a (Y-DNA)  Haplogroup E1b1a is a subclade of Haplogroup E in Africa, where it reaches frequencies of over 80% in West Africa.[6] It has been hypothesized that E1b1a originated in Northern Africa, spread to West Africa and then to Middle Africa with the Bantu expansion.[7] However, Rosa et al. (2007) and others suggest that it likely originated in and expanded from West Africa (i.e., the Sudanese Belt) within the last 20,000 to 30,000 years based on the fact that the frequency and diversity of E1b1a in this region are among the highest found.[1][8][9] E-M2 is considered to be the signature Y-DNA for the Bantu expansion, however, it should be considered the signature y-DNA for the Niger-Congo phylum or language, which means that E1b1a was probably the most common chromosome in West Africa when the Niger-Congo language emerged at least 15,000 YBP (years before present).[8][10]
[edit] Distribution

There exists a west-to-east as well as a south-to-north clinal distribution with respect to E1b1a-M2; in other words, the frequency of this haplogroup increases as one moves from East and North Africa toward West and Southern Africa.[3] Consequently, there are lower frequencies in the Horn of Africa, North Africa, and West Asia, where haplogroup E1b1b has higher frequencies. Some E1b1a lineages in these regions may possibly be related to the Arab slave trade.[3][11] In Egypt, E1b1a appears in approximately 3% of the male population,[3][4] but it has been found in samples of Egyptians with frequency as low as 0% (0/73)[12] and as high as 8% (3/36).[13] Saudi Arabia has a 7.64% frequency,[14] and Oman has about 7.4%.[3] The Somalian population is about 1.5% descendant of M2.[15] One study has found haplogroup E1b1a-M2(xM116.1, M155, M10/M66/M156, M149, M58, M154) Y-DNA in 3.4% (3/88) of a sample of males from Ethiopia,[16] but another study has not found any instance of E1b1a-M2 in a sample of 78 Oromo and 48 Amhara males from Ethiopia.[5] Haplogroup E1b1a-M2 has been found in 1.7% (2/117) of a sample of males from southern Iran,[17] 1.4% (2/139) of a sample of males from Iraq,[18] 1.4% (9/638) of a sample of males from Pakistan,[19] and 1.2% (1/81) of a sample of males from Istanbul, Turkey.[20]

The Trans-Atlantic Slave trade brought a significant number of men from West and Middle Africa to the Americas who had the M2 SNP. It has been observed at a frequency of 82% in United States men of paternal African descent.[6] In the northeast state of Bahia, Brazil, E1b1a was found at 18% of the state's sample tested male population

 

 

 

A comment from David Wilson, formerly of the ISOGG on 5/21/2007:  "Haplogroup E and its subclades continue to represent the most complicated branch of the Y-chromosome tree in my opinion, though some would offer J and O as equally challenging branches"

 

 

 

Africans in England and early America

 

For a discussion of this see Africans in Great Britain, Unit Three: Studying Africa through the Humanities  " In 1544, five Africans sailed from Africa to Great Britain with Captain John Lok. They were brought to England to train as interpreters and to help develop trade relationships between Africa and Britain. As Great Britain's involvement in the slave trade grew, more blacks came to the country and the interactions between Africans and Britains became motivated by prejudice and racism. By 1596, a number of African slaves and free blacks were living in Britain...  By the eighteenth century, approximately 15,000 people of African descent were living in Britain, and many lived near the ports of London, Liverpool and Bristol."   Also read about  Shakespear's Othello : "Othello is called a "Moor," yet his physical description seems to suggest a black man from central Africa, rather than an Arab. (Rodrigo describes Othello as "the thick lips," for example [1.1.63].) Since the mid-sixteenth century, black people had been known in London, and by the time Shakespeare was writing the slave trade had begun. Ships carrying black slaves passed through London, and many stayed..."

 

 

 

Rare African DNA Discovered in White British Males   by James Owen for National Geographic News (1/2007)

Rare DNA previously found only in people from West Africa has turned up in white males from northern England, a new study reports. The surprising discovery was made during a survey of genetic diversity in the United Kingdom based on the male Y chromosome. This sex-determining chromosome is copied from father to son, providing a record of male ancestry. The uncommon DNA, a chromosome called hgA1, had previously been detected only in a region of West Africa that includes Mali, Senegal, and Guinea-Bissau, the team says (Africa map). "It's a really special chromosome, one that's only been reported before in a handful of men in Africa," said Mark Jobling, a genetics professor from the University of Leicester who led the research team.

The hgA1 chromosome lies near the root of the family tree of Y chromosomes in Africa, Jobling added. "It's an ancient type that's African specific."
But the team found hgA1 in one white British male who took part in the survey, despite the man having no known African family connection. According to the research, published online this week in the European Journal of Human Genetics, the unusual DNA has been present in Britain for at least 250 years.

Distinctive Surname

After making the surprising find, Jobling's team tested other British men who shared the same east Yorkshire surname as the original man found with the African chromosome. (The researchers haven't revealed the surname, which is derived from a Yorkshire place name, to preserve the anonymity of the study participants.) Seven out of 18 of those tested also had the rare chromosome, even though the men weren't known to be related.  Genealogical research and further genetic testing were used to date the arrival of the African DNA in northern England. Records such as birth and marriage certificates traced the men's surname to two individuals who were born in Yorkshire in the 1780s. This closely matched the date reached from analyzing mutations in the studied Y chromosome (get an overview of human genetics.) Such mutations build up through generations at a predictable rate, allowing the study team to work back to the time when the men likely shared a common ancestor.

"Both those lines of evidence say that this chromosome has been around since at least the mid-18th century," Jobling said. The finding suggests that black people have contributed to the "indigenous" British gene pool despite previous evidence to the contrary. Africans were first recorded in northern England some 1,800 years ago, part of a Roman garrison brought in to defend Hadrian's Wall against raids by tribes in what is now Scotland, the study team said.
But slaves from West Africa, Jobling said, were the most likely source of the African DNA revealed in the study. "The first boatful of slaves showed up in 1555 in England, and so from that time on their numbers increased," Jobling said. In 1601 Queen Elizabeth I issued an edict "that black people should be expelled from Britain because there were too many of them around, which everybody ignored," he added.

Historian Ron Ramdin, author of Reimaging Britain: 500 Years of Black and Asian History, said that by the end of the 18th century an estimated 10,000 black people were living in Britain, mostly concentrated in cities. Despite this long history of contact, previous studies of the genetic makeup of Britons haven't detected evidence of African Y-chromosome lineages, the study team noted.

In a book released in 2005, David Miles, research fellow at the Institute of Archaeology in Oxford, England, said that evidence suggests that about 80 percent of the genes of most white Britons have been passed down from a few thousand Ice Age hunters. The University of Leicester's Jobling concedes that African DNA probably exists "at a very low level" in the native British gene pool. But, he said, the latest findings show that "what it means to be British is complicated and always has been."

Mark Thomas, from the Centre for Genetic Anthropology, University College London, said other Y-chromosome lineages in Britain from the last 1,000 to 2,000 years probably also have an African origin. "For example, there's a lineage that's very common in North Wales that's usually found in places like North Africa and Ethiopia," he said. The new study, Thomas added, "makes the point that we do all have very mixed ancestry."
 
 
© 1996-2007 National Geographic Society. All rights reserved.

 

When you match another surname; Y-DNA The Role of Surnames

Excerpted from the July 2007 FTDNA newsletter

Added by D Phelps:  Perhaps the most obvious reason for not matching as expected is due to errors in the paper trail paternal linage.  Make sure to confirm each ancestor with primary source records. 

The surname is an important component of analyzing Y DNA results, and sets the outer boundary for the time frame of a match. Surnames were adopted in different countries at different times. For a long time, people were just known by their first name. As society became more complex, a system was needed to distinguish one person reliably and unambiguously from the next person.

A surname is typically a hereditary name borne by members of a single family and handed down from father to son. Thus, surnames contrast with given names, which identify individuals within the same family. It is characteristic of surnames that all members of a particular family normally have the same surname. A surname therefore follows with the Y DNA result, which makes the testing of Y DNA a very powerful tool. On the whole, the richer and more powerful classes tended to acquire surnames earlier than the working classes and the poor, while surnames were quicker to catch on in urban areas than in more sparsely populated rural areas.

Surnames were adopted in different areas at different times. In many parts of central and western Europe, hereditary surnames began to become fixed from the 12th century forward. The bulk of European surnames in countries such as England or France were formed in the 13th and 14th centuries. In some places, the process started earlier, and in some places the process continued into the 19th century. Overall, the norm is that in the 11th century people did not have surnames, and by the 15th century they did.

The process of adopting a surname was spread over time, and these surnames continued to evolve until the 1900's when spelling was standardized . Surname variants occurred during the evolution of the surname. There was no guide to the spellings of names, and those who recorded events, such as the clergy and registrars, attempted to reproduce phonetically the sounds they heard. The great majority of the population were illiterate and had no notion that any one spelling of their name was more 'correct' than any other.

Prior to the time surnames were adopted, men with the same Y DNA result were spread out over a geographic area due to migrations. In addition, invasions and wars often dispersed a Y DNA result significantly. Many men had the same Y DNA result when surnames were adopted. It is currently impossible to predict how many men had the same Y chromosome DNA result at this time. Some Y DNA results were dying out, and others were abundant. Therefore, men with the same Y chromosome DNA result adopted different surnames. If there was a large population of the Y DNA result, such as with the haplogroup R1b, many different surnames would have been adopted for this Y DNA result.

As the database of Y DNA results at Family Tree DNA grows, almost everyone will eventually have Y DNA matches with other surnames. The primary reason for these matches is that multiple men with the same Y DNA result adopted different surnames during the time period when surnames were adopted. These men could have been in the same village, or in the same county, or perhaps migration had taken them to different countries.

In addition, two men with different surnames may have a matching Y DNA result due to convergence. Convergence is where you start with two different Y DNA results, in the past, and the results mutate over time, to where they match or are a close match today. The higher the population of a Y DNA result, the more opportunity there is for convergence to occur. Since Haplogroup R1b is the largest population group in Europe, matches with other surnames are very common. These matches are due to the large population of this Haplogroup that existed when surnames were adopted. Many different surnames were adopted, and convergence has occurred over time.

If we go back far enough in time, we are all related. The surname is used to establish a boundary for determining whether two people are related. If you match some one with a different surname, you are most likely related prior to the adoption of surnames.  In some cases, you could be related after the adoption of surnames, due to one of the following events occurring:

1. informal adoption, such as a widow remarries, and the children take the new surname
2. infidelity
3. illegitimate male child who takes the mother's surname
4. adoption of a new surname, such as by preference or for inheritance
5. a pregnant woman marries a man with a different surname than the child she is carrying

Even though these events have occurred in the past, they were not the norm.  Pursuing a match with another surname should not be considered until both participants upgrade to 67 Markers to determine if the match still holds.  At this point, if the match still holds at 67 markers, a decision can be made as to whether to pursue the match with another surname. To avoid wasting time, there should be some evidence that one of the events above occurred. In making this decision, the place to start is to evaluate the evidence. Were the ancestors in the same location, at the same time? Was there a marriage by a widow who had children? Is there a use of alias in any records? Is there any evidence to support a match with another surname?

In most cases, there isn't any evidence to support pursuing the match.

A Surname Project is a very valuable tool for family history research. The surname establishes the time period for determining if two people are related. Surname Projects can provide tremendous be nefit for those who are researching their family history. DNA testing has a wide range of applications, from additional information to use in conjunction with the paper records for interpretation, to clues to find the ancestral homeland.

In addition, as a long term goal, a Surname Project can determine the number of points of origin of the surname. The Surname Project would combine DNA results with the techniques used to research surnames, and identify the ancestral location(s) or area(s) where the surname was adopted.

As you research your family tree, eventually you have to stop, because the written records end, or are sporadic. This could be the result of the destruction of records, such as due to a court house fire. Or, this could be the result of reaching the time period prior to consistent written records. For example, the time period before the adoption of Parish registers. Often your family tree will stop before you reach the start of Parish regis ters, because there is insufficient documentation to make a connection.

When your family tree ends, often there is still a long period of time between then and the adoption of surnames. For example, if your tree ends in the late 1700's due to insufficient documentation, there is still 400 to 500 years between then and the adoption of surnames, depending on your ancestral country.

DNA testing can fill this 500 year gap. Imagine a situation years from now, where every family tree with your surname has tested. The data would then be available to determine whether your surname had a single or multiple points of origin. Combining this information with surname mapping, frequency distribution studies, and research in Medieval records would most likely enable the Surname Project to identify a geographic area as the ancestral homeland.

Our surname is a very important part of us, and DNA testing tells us about this surname. For example, did one man take on th e surname, and all the descendents today are related, except for a few trees which are descendents of an informal adoption, and descendents of an illegitimate birth?

With DNA testing, we might also discover previously unknown variants. This could be very helpful for research, especially when records can't be found, and later it is discovered that the records are actually there, but recorded with a previously unknown variant.

Surname dictionaries have been published and identify the origin for many surnames. The authors of these books used the tools available at the time. Never before have these experts or authors had the powerful tool of DNA testing available. There are many discoveries to be made with DNA testing. Most likely, DNA testing will prove that some long held beliefs about the origins of various surnames are incorrect.

By participating in a Y DNA Project, or sponsoring a participant if you are female, you are making a significant contri bution to the knowledge about your surname. Even when your tree ends, you can still discover information about your origin.

 

Unexpected Y-DNA results and the “Non-Paternity Event”

By Douglas Phelps, with assistance from Colleen Fitzpatrict

  4/26/2006, 5/4/2006, 5/22/2006 are changes in blue

 
As we compare our Y-DNA results to others we may find very unexpected results.   We need to remember that only male Y-DNA is of consequence here - the mother's DNA will not contribute to the Y-chromosome, independent of the surnames of the parents.  There is no point is searching your genealogy for a female with that surname.   So we have to consider the "non-paternity event", a general term often used to describe unexpected Y-DNA results.    Make sure to confirm each ancestor with primary source records. 

Otherwise, the primary causes of the non-paternity event are:

Regarding an affair, you will be in one of two situations depending on your expectations:
    
Situation one: We test men of the same surname and expect to see a Y-DNA match based on the paper trails of descendants, but there was no match or a poor match.  The explanation could be an “affair”.   The Y-DNA of a son is always that of his paternal father.  For example, a son of a Bond father and a Phelps wife, raised as a Phelps, will have descendants named Phelps but will have the Y-DNA of a Bond. Tests of the descendants of the Phelps sons will not match the descendants of the “Phelps boy who is really a Bond”.     Conversely, a son of a Phelps father and a Bond wife, raised as a Bond, will have descendants named Bond but will have the Y-DNA of a Phelps. Tests of the descendants of the Bond sons will not match the descendants of the “Bond boy who is really a Phelps”.    
 
In addition to the non-paternity event, mutations of alleles over very long periods of time can also account for poor matches than expected of the same surname.  
  
Situation two: We test men of different surnames and do not expect to see a Y-DNA match , but there was a close match.   The valid explanation could be an “affair”.  The Y-DNA of a son is always that of his paternal father.  For example, a son of a Bond father and a Phelps wife, raised as a Phelps, will have descendants named Phelps but will match the Y-DNA of other similar Bonds. Tests of the descendants of the "Phelps boy who is really a Bond" will match descendants of the other Bonds.   Conversely, a son of a Phelps father and a Bond wife, raised as a Bond, will have descendants named Bond but will have the Y-DNA of a Phelps. Tests of the descendants of the "Bond son who is really a Phelps"  WILL match the descendants of  other Phelps.    

  

 Mutations of alleles over very long periods of time won't account for matches of different surnames.

 

 
 
 
Frequency rates of  non-paternity events
 
The frequency will vary widely depending on the time period and cultural factors. One study arrived at a rate of 1.3% per generation. Over 12 generations that would mean a 15% chance that a descendant would have a different Y-DNA from the original.  (Source: Abstracted from Trace Your Roots with DNA , page 41, by  Megan Smolenyak and Ann Turner)
 
“Illegitimacy rates have been found to vary in time for Great Britain and Western Europe from a 4.4% in 1540 to down about 1% in the1600s and in the 20th century alone, from 4% at the beginning of the century to 30% near the end.”  Page 98. From a chapter on the subject in DNA and Genealogy by Colleen Fitzpatrick   

Before the Dawn cites some interesting numbers for nonpaternity events.  A cited expert, Bryan Sykes, says these events range from 1.4% to 30% in contemporary populations, though the usual rate is 2 to 5%.

 
It’s not a number that’s nailed down at this time because there’s not a study out there that we can cite. Academics have variously estimated that it may be between 1-2% per generation.  (Source: Sierra Netz,  Family Tree DNA, 3/2006)
 
“There is a paper from earlier this year by Anderson of University of  Oklahoma on paternity confidence levels and the % of non-paternal events in father-son tests. To summarize briefly, he used data from 66 published studies to establish how frequently non-paternal events happened in
father-son test subjects. He divided his finding into 3 groupings based on the test subjects confidence level of their paternity. The High Paternity Confidence group included those participating in 22 genetic projects which he assumed would have a higher confidence level in their paternity since many were lineage studies . Their average rate of non-paternity was 1.9%.
The second group was of Unknown Paternity Confidence level from 14 studies from which confidence levels could not be determined. The rate of non-paternity for this group was 3.9%. The last group of 30 studies was of Low Paternity Confidence level. It included people who had been tested because of paternity dispute issues they were involved in. The average rate of non-paternity in this last group dramatically jumped to 30.2%”.  Source: http://archiver.rootsweb.com/th/read/GENEALOGY-DNA/2004-12/1102428402

 

 

Inherited Genes

 

“You almost certainly have inherited some of your genes of genetic markers from your great-great parents, but… there is only one chance in eight that you inherited a specific one…The farther back you go, the less chance you have of inheriting any particular trait. By the time you get back to 10 generations it is quite possible that you have inherited noting from him. The average amount would be less than one part in a thousand…  An yet, every single one of your genes has come down to you in an unbroken line for thousands of generations.”  Source: Trace Your Roots with DNA, by Megan Smolenyak and Ann Turner. (Note this does not apply to the male Y-DNA chromosome.)

 
 

A Review of  Y-DNA Haplogroups (by FTDNA 3/5/2006)

When you take a Y DNA test for 12, 25, 37, or 67 markers, your test result is called a haplotype. In addition, you are provided with information on your haplogroup, or major population group. All members of a haplogroup descend from a common distant ancestor.

Family Tree DNA predicts your haplogroup based on the first 12 markers of your test result. Our proprietary prediction algorithm takes advantage of our database of SNP-tested haplotypes, the most extensive in the world of its kind. In addition, our SNP Assurance Program guarantees a prediction with 100% certainty, or we will provide a SNP test at no charge to determine your haplogroup.

Haplogroups represent the branches of the tree of Homo Sapiens. Every male in the world is on one of the branches of the tree. The b! ranch of the tree is identified by a SNP, which is pronounced as "snip ." SNP testing can determine and confirm your placement on the tree.

The branches of the tree of Homo Sapiens are labeled A through R.

If you have taken a Y-DNA test, there is a tab on your Personal Page called "Haplogroup." When you click on this tab, the proprietary system at Family Tree DNA will predict your haplogroup, based on your 12 marker haplotype. This prediction algorithm compares your 12 marker Y-DNA result with our database of Y-DNA 12 marker results and their corresponding haplogroups.

On your haplogroup page, your 12 marker matches found in the haplogroup database are shown, along with your prediction. At the bottom of the page is a description of your haplogroup.

If exact and close matches on the haplogroup page all show the same haplogroup, then your prediction is solid, and testing is not required to confirm your haplogroup. If more than one haplogroup is shown for these matches, then your haplogroup prediction is conflicting, a! nd a SNP test is needed to confirm your haplogroup. This test is provided at no charge under our SNP Assurance Program.

A SNP test looks at a specific location on the Y chromosome to determine if a mutation occurred. A haplogroup is defined by a mutation that occurred some thousands of years ago. These mutations are called Single Nucleotide Polymorphisms, or SNPs.

The major branches of the Y-DNA tree of Homo Sapiens, labeled A through R, have additional branches, where a haplogroup is broken down into sub-haplogroups. For example, perhaps you belong to haplogroup J. Haplogroup J is broken down into J1, J2, and J*.   The system for identifying the branches of the Y-DNA tree alternates letters and numbers. An asterisk is used to denote those who do not fit a defined branch. If you belong to haplogroup J, and are not J1 or J2, then you are J*.  Some haplogroups have more branches and twigs than other haplogroups. This is based on the SNPs that have! been discovered and published.

Anthropologists study SNPs to determine ancient migratory patterns and deep ancestral dating, such as when Europe was settled.  Your haplogroup is defined by a mutation that occurred thousands of years ago, and was passed down to subsequent generations. Additional mutations also define the branches on the tree, the sub-haplogroups. SNPs are tested to identify your sub-branches, too.

Your haplogroup is predicted when you click the haplogroup tab on your Personal Page. If your haplogroup cannot be predicted with 100% confidence, a SNP test will be performed, until your haplogroup is determined. We continue to test your sample until a SNP confirmation is found for your sample.  If you want to determine your sub-haplogroup, you can order a Y-DNA SNP test for Deep Sub-clades! test from your haplogroup page.  For those who take a test to determine their sub-haplogroup, the results of your test also apply to the others in your Surname Project who are a match or close match. Therefore, only one test needs to be taken by a member of a group whose results match or are a close match.
 

 

Markers that mutate faster and how to use them  

An update to the following information, based on a conversation with 'eileenk@familytreedna.com' at FTDNA:  While the fast mutating markers named below can be used to "differentiate lines or branches" one must consider that well researched genealogies may need to be given highest priority, even when if a kit appears to be in the wrong branch due to a mismatched "fast moving marker".   Eileen said the highest mutating markers are Cdy-a and b.  FTDNA also adds that where there are no merging paper trails but fast moving markers of tested men do match, it may be deduced that the matching men may be from the same branch. .  

While reading this, review the red markers at http://www.familytreedna.com/public/Phelps/default.aspx?section=yresults  (As of 8/2009 the fast moving comments for the red markers, seen originally on this FTDNA report,  was missing and was to be inserted again.)

 

It is obvious from our observation of 10's of 1000's of samples that some markers change or mutate at a faster rate than others. Therfore not all markers should be treated the same for evaluation purposes.  The markers in red have shown a faster mutation rate then the average, and therefore these markers are very helpful at splitting lineages into sub sets, or branches, within your family tree.

Explained another way, if you match exactly on all of the markers except for one or a few of the markers we have determined mutate more quickly, then despite the mutation this mismatch only slightly decreases the probability of two people in your surname group who match 11/12 or even 23/25 of not sharing a recent common ancestor.

Source:  FTDNA administrators ydna matching page.

 

Y DNA: Marker Selection  (the following is from "Facts & Genes "by FTDNA)

From a genealogical perspective, useful markers are those which can change, but which do not change too often.

By selecting a mix of markers that change slowly and therefore are relatively stable, as well as more rapidly-changing markers, Family Tree DNA is providing the best selection of markers for genealogical purposes. Multi-copy markers are a very important component of the marker mix.

On the Group Administrators' Y-DNA Results Page, fast moving markers are shown in red in the heading. These markers are:

DYS 385a, b
DYS 439
DYS 458
DYS 449
DYS 464a, b, c, d
DYS 456
DYS 576
DYS 570
CDYa, b


You will notice on the above list, that several of the fast moving markers are multi-copy markers, which are very valuable, since they change more rapidly.

A multi-copy marker is one where several copies of the marker exist on the Y chromosome. The name of a multi-copy marker includes small letters, such as a or b, following the marker DYS name.

When selecting the markers for our various tests, Family Tree DNA included 1 or 2 multi-copy markers in each panel, corresponding to the four Y-DNA tests available. The 12 marker Y DNA test has 1 multi-copy marker. The upgrade to 25 markers adds 2 multi-copy markers, and the upgrades to 37 markers and then to 67 markers each include 2 more multi-copy markers. Inclusion of these multi-copy markers is important based on both scientific attributes of the marker as well as the genealogical implications.

Test                 Multi-Copy Markers
====                 ================== 

12 Marker            385a, 385b
25 Marker Upgrade    459a, 459b and 464a, 464b, 464c, 464d
37 Marker Upgrade    YCA II a, YCA II b and CDY a, CDY b
67 Marker Upgrade    395S1a, 395S1b and 413a, 413b


For markers to have value to genealogical research, they must be stable, but not so stable that they can't differentiate lineage, and also change, but not change so quickly that closely related persons don't match. A well-formed panel includes a range of markers which change more rapidly and markers which change less rapidly.

Multi-copy markers tend to change more rapidly. Markers which change more rapidly are valuable to genealogical applications of DNA testing, to differentiate lines or branches, or identify persons who are not related. Rapidly changing markers are valuable in differentiating unrelated individuals using a small number of markers.

Marker DYS464 is a rapidly changing Y chromosome marker and a multi-copy marker. It most often has four copies, which are labeled: DYS464a, DYS464b, DYS464c, DYS464d. Marker DYS464 is also known to occur more than four times. Additional copies of DYS464 are called: DYS464e, DYS464f, and so forth. When more than four copies of DYS464 are found in a DNA sample, the results for all the copies are provided by Family Tree DNA.

When testing a random sample of 679 males for DYS464, scientists have found that the result 15,15,17,17 occurred in 10.6% of those tested, 15,15,16,17 occurred in 7.5% of the samples, and all the other results occurred less than 5% of the time, with over half these results only occurring once. This illustrates that marker DYS464 is valuable in differentiating unrelated persons.

The results for a multi-copy marker are reported in ascending order. For example, here are some results for DYS464:
11 11 14 16
12 14 15 16

Since the results are reported in ascending order for multi-copy markers, this must be taken into account when comparing the results of the markers between individuals. For example, consider the following results:

Example 1: 15 15 17 17
Example 2: 13 13 15 17

At a glance, you may see 3 differences, but there are really only 2. To correctly interpret the results for this multi-copy marker, the results that match are not counted as differences. The 15 in the first example above matches a 15 in the second example, so the 15 is not counted as a difference, even though the two 15's do not line up in the display of the results. A 17 from the first example matches the 17 in the second example. The two 13's in the second example do not have a match in the first example, so in comparing these two results, we find 2 differences.

Since multi-copy markers change more rapidly, these markers are an excellent tool to identify branches or lines, or to identify persons who are not related in a genealogical time frame.
 

Source:http://www.familytreedna.com/news-letter.aspx?v=6&i=2

Understanding Matches   Written by FTDNA

Just as there are surnames which are very common, (such as Smith and Jones), and surnames which are uncommon, there are Haplotypes (a set of results that characterize you on the Y-Chromosome) with a high frequency of occurrence (aka common), and Haplotypes with a low frequency of occurrence (aka uncommon). The 12 Marker result from the Y-chromosome test is called a Haplotype, and can help determine if your DNA sample is common or uncommon.

When you compare a 12 Marker result to another 12 marker result of someone with the SAME surname, and the results match 12/12, there is a 99% probability that you two are related within the time frame included in the MRCA tables. If the match is 11/12, there's still a high probability that you are related IF the 11/12 match is within the same surname. If you compare a 25 Marker result to another 25 marker result for the SAME surname, and the results match 25/25, then there is also a 99% confidence that the two individuals are related…and at a much closer time interval than with the 12 marker test.

If you compare the 12 marker result to someone else who does not have the same surname, but the scores match, you are most likely NOT recently related. When we use the term recently related, we are talking about a time frame within the last 1000 years or 40 generations, a time depth that accommodates the earliest known use of surnames.

According to current theories, we are all related. The degree of relatedness depends on the time frame, or the number generations between the participants and the common ancestor.

We all descend from one single person, but of course the DNA test that we do is not to tell us this obvious fact.

Since we all descent from one person, and then from a few families, and as times goes by those families keep branching out up to the point where we get to our own family nest, it would be natural that when we check our DNA, the less markers we check, the less unique they are, and the more markers we test, the more unique the whole string of markers is. In other words, to go to extremes, if we tested only one marker, we would most certainly match with millions of individuals that shared that marker for thousands of years. But if on the other hand when we test many markers, we will match very very few people that share those same markers. Those would be the ones that are closely related to us.

This is valid when checking our matches on 12, 25 or 37 markers. The likelihood that we will match other individuals with 12 markers is far greater than matching on 25 or 37. Especially if our family descends from a populational group that came from one or a few prolific families thousands of years ago (which is the case for Western Europe). Dr. Luigi Lucca Cavalli-Sforza, Professor Emeritus, Stanford University, in his fascinating book: The Great Human Diasporas: The History of Diversity and Evolutions says that the total population of Europe was 60,000 people at the end of the last Ice Age, about 10,000 years ago. Now Europe has a population of 300 million people. This increase is almost entirely due to a natural increase in population rather then immigration from other continents. Keeping this in mind it is reasonable that many people alive today in Europe will match with other Europeans from BEFORE the time that our ancestors began the adoption of surnames, and when you match someone who has a different surname your first thought should be that the ‘connection’ is distant rather then recent.

Our bodies work as copy machines when it comes to the Y-DNA. You can have a copy machine doing 1,000 copies without a problem, and then, the 1,001 copy may have an "o" that looks more like an "e". And when we use this copy to make additional ones, all the new ones will now have an "e" instead of an "o". This is a simple way to explain how mutations occur in our Y-DNA when it's transferred (copied) from father to son. Mutations don't happen frequently, on the contrary, very seldom, but they can happen randomly in time, which means that I could be one mutation off of my father. That is why all those matches or close matches on 12 markers will in most of the cases go away when they happen between different surnames, and we increased the numbered of markers that are compared: more mutations showing up, which means way back in time when the common ancestor lived.

The only exceptions to this are if an unannounced adoption or false paternity has taken place, but that is difficult to prove, although certainly not impossible.

If two 12 marker results match for two participants with the same surname, and the genealogy research shows a common ancestor in 1835, the DNA test has validated the research and proven that the two descendents are related. In this example, you have two items of evidence to support that the individuals tested are related…a documented paper trail and the DNA results. In addition, the research provided a precise time frame for the common ancestor.

Without the genealogy research, and where 2 participants with the same surname match on the 12 marker test, then the scientific answer to the degree of relatedness is that 50% of the time the common ancestor would have occurred within 7 generations, or within approximately 150 years. The range of generations for the common ancestor extends to 76.9 generations, or almost 2000 years for those cases where there is not a surname in common. Therefore the importance of a surname link is paramount to provide a comfortable conclusion of relatedness. Most of the time random matches with people with different surnames do not stand the test for extended DNA testing.

While the MRCA tables will give you the general probabilities for relationships on different levels of matching, the FTDNATiP found in your personal matches page will give you probabilities that are specific to others that you may be related.


 

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