I Have the Results of My Genetic GenealogyTest, Now What?
This e-book is reprinted here by permission from FTDNA and Blaine Bettinger. ph.d.


Chapter 1: What Is (And Isn?t) Genetic Genealogy?

Chapter 2: How Do I Interpret My Y-DNA Results?

Chapter 3: How Do I Interpret My mtDNA Results?

Chapter 4: How Do I Interpret My Family Finder Results?

Chapter 5: Monitoring the Field of Genetic Genealogy


We at Family Tree DNA would like to express our appreciation to Blaine Bettingerfor writing Chapters 1, 2, 3, and 5 and to Matt Dexter for his contributions to Chapter 4 of this eBook.

Blaine Bettinger is the author of a popular blog called The Genetic Genealogist <www.thegeneticgenealogist.com>. He has engaged in traditional genealogical research for almost 20 years and is interested in the intersection of genealogy and DNA Testing.

? 2008 Blaine T. Bettinger, Ph.D. Please feel free to post, email, or print this eBook for any non-commercial purpose. Not for resale.
 


Chapter 1

What is Genetic Genealogy?

If you?re reading this eBook, then you?re probably already fully aware ofgenetic genealogy, the use of DNA to explore ancestral origins andrelationships between individuals. It is, as I call it, ?another tool for thegenealogist?s toolbox.?

DNA stock

Although there are four types of genetic genealogy tests ? autosomalDNA tests, X-DNA tests, Y-DNA tests, and mtDNA tests ? we will onlybe exploring the results of Y-DNA and mtDNA testing in this eBook.

Y-DNA tests, available only to males, examine either STRs (shorttandem repeats) or SNPs (single nucleotide polymorphisms) on the Ychromosome. For an STR test, short segments of DNA are measured. The number of repeats in that shortsequence changes over time, and these changes are passed on from father to son. STR analysis provides aperson?s haplotype, which is used to predict an individual?s haplogroup. SNP tests examine single nucleotidechanges in the DNA sequence and are typically used to determine a person?s exact haplogroup.


mtDNA tests, available to both males and females, sequence a short region of the mitochondrial genome(although it is possible to sequence the entire mitochondrial genome). When mtDNA is tested forgenealogical purposes, a region of the DNA is sequenced for mutations. The mtDNA sequence is thencompared to a single mtDNA sequence, the Cambridge Reference Sequence. The differences are listed asmutations that can be compared to the thousands of other mtDNA mutation listings that are stored in theFamily Tree DNA database and in publicly-available databases. The results can also be used to roughlyestimate the amount of time to which individuals share a most recent common ancestor (MRCA). The resultsof an mtDNA test provides a person?s haplotype. Family Tree DNA performs additional testing with everymtDNA test to determine an individual?s haplogroup.

According to a 2006 report (Genetic Genealogy Goes Global, 7 EMBO Reports 1072-4), at least 460,000genetic genealogy kits have been sold throughout the world. By my recent estimate, that number might be ashigh as 600,000 to 700,000 and increasing by as much as 80,000 to 100,000 a year. Regardless of the exactnumber, genetic genealogy is a quickly growing field.

What ISN?T Genetic Genealogy?

Although genetic genealogy is an informative addition to anyone?s family tree, it is not without limitations.These limitations have been the focus of a great deal of media attention in recent months. Anyone who is


thinking about buying a genetic genealogy test should be aware of the following:

1. The results of a genetic genealogy test do not include a family tree. DNA alone cannot tell a personwho their great-grandmother was, or what Italian village their great-great grandfather came from.Genetic genealogy is an addition to traditional genealogical research, not a replacement.2. Although Y-DNA and mtDNA can be used to determine the relatedness of individuals, it cannotdirectly determine the degree of relationship. For example, an mtDNA test might be used tofinally determine whether two women are maternally descended from one individual, as yourtraditional research has suggested. However, the results will not be able to determine whether thewomen are first cousins, third cousins, or fifth cousins once removed.3. Genetic genealogy testing CAN potentially reveal information about your health. Research hasidentified a correlation between missing DYS464 on the Y-chromosome and infertility. Out of over85,000 testees, Family Tree DNA has identified only 11 people without a DYS464. Some metabolicand other diseases can be revealed by full mtDNA sequencing (also called FGS).

4. Finally, a genetic genealogy test will only reveal information about a small percentage of yourgenome. As every genealogist knows, at 10 generations there are as many as 1024 ancestors in thefamily tree. Thus, a Y-DNA test or mtDNA test only represents one individual out of 1024.However, almost every genealogist has spent money and a great deal of time and effort attempting


to learn even the smallest bit of information about an individual in their family tree. DNA isanother way to add to that information.

Even with these limitations, genetic genealogy can be an informative and exciting addition to traditionalresearch, and can sometimes be used to answer specific genealogical mysteries. There are many ? perhapseven hundreds ? of genealogical success stories thanks to the proper use of genetic genealogy. To read aboutsome of these inspiring success stories, see the International Society of Genetic Genealogy?s (ISOGG) SuccessStories <www.isogg.org/successstories.htm>.


Chapter 2

How Do I Interpret My Y-DNA Results?

DNAaThe following is provided to anyone who might be unfamiliar withgenetic genealogy. Note that it is composed of my suggestions and arenot necessarily the same suggestions that someone else would make.Additionally, if you are undergoing genetic genealogy testing toanswer a specific question (such as, is my surname really XYZ), youranalysis will differ from the one I have provided (see question #3under ?STR Testing,? below).

A. STR Testing

For the purposes of this section, let?s assume that you have ordered a 12-marker STR test without SNPtesting, since this is the most common type of Y-DNA testing. The results arrive as a series of markers andthe results, or alleles, as in the following example:

 

Table 1. Sample Y-DNA STR Results

DYS# 393 390 19 391 385a 385b 426 388 439 389-1 392 389-2
Alleles 13 24 14 10 11 14 12 12 12 13 13 29

What does this string of numbers mean? At each of these locations on the Y-chromosome there is the potential for some variation (repeats of the same DNA sequence). For example, at DYS426, the variationconsists of 7 to 18 repeats of the DNA sequence ?GTT?, with 12 being the most common (>60% of Y-DNA samples, according to FTDNA). The sequence would look like this, with the 12 repeats in bold:

?TGTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGAC?

Someone with a result of 7 at DYS426 would have the following sequence:

?TGTGTTGTTGTTGTTGTTGTTGTTGAC?

Together, the particular alleles revealed by testing represent your personal Haplotype. Using our samplehaplotype, we will attempt to (1) identify the Haplogroup of this Y-DNA sample; (2) research the identifiedHaplogroup; (3) find matches in Y-DNA databases; (4) attempt to find and join a surname or geographicalDNA project, and; (5) start our own DNA project.

1. Which Haplogroup Does This Y-DNA Most Closely Match?

Family Tree DNA predicts your haplogroup based on your STR results and will inform you of theirprediction. Family Tree DNA customers can find their haplogroup prediction or confirmation in theHaplotree section of their myFTDNA page. If the haplogroup cannot be confidently predicted, Family TreeDNA will also provide additional testing to identify and confirm your basic haplogroup assignment.

You may also be interested in experimenting with other haplogroup predictors and analyzing yourhaplogroup prediction yourself. The first step in the analysis is to visit Whit Athey?s Haplogroup Predictor<www.hprg.com/hapest5>, a free web-based program that allows the user to easily estimate theirHaplogroup (but be sure to read the Conventions page ? some testing companies report different numbersfor the same alleles and it is important to enter the correct number into the program). Choose either the basic15-Haplogroup Program, or the Beta 21-Haplogroup Program. You might want to start with the 15 to get arough idea, and then use the 21 to potentially obtain more information. Enter your allele values into thepredictor and the probability of your Haplogroup will be calculated in the right-hand field as you type.

Let?s use our alleles as an example. When we input these alleles, there is a 100.0% probability that the Y-DNAbelongs to Haplogroup R1b. Don?t worry if your results aren?t as clear as this example; Haplogroupdesignation using STR results rather than SNP results is a matter of statistical probability rather thanabsolute certainty. Fortunately, the results in our example match the Haplogroup predicted by the testingcompany. If your results don?t match the predicted Haplogroup, you might have to conduct more research toattempt to elucidate to which Haplogroup your DNA belongs.

If you are unable to predict a Haplogroup based upon STR testing, one possible avenue is to proceed withSNP testing, which will almost certainly be able to identify your Haplogroup. We will example SNP testing ina later section.


2. How Do I Learn More About My Y-DNA Haplogroup?

Now that we know that we (most likely) belong to Haplogroup R1b, we should attempt to learn as much as wecan about the Haplogroup. Here are some links that will contain information about most, if not all, of themajor human Y-DNA Haplogroups:

? Family Tree DNA provides several informative tools for learning about your haplogroup in theHaplotree section of customers? myFTDNA pages. The central Haplotree page shows thehaplogroup chart and where your branch fits within the Y-DNA tree. The frequency map showsmeasured frequencies of major haplogroups within researched populations and displays a shortdescription of your haplogroup. The migration map demonstrates the general path your paternalancestors took to reach the part of the world in which they can be found today.? Charles Kerchner?s YDNA Haplogroup Descriptions & Information Links<www.kerchner.com/haplogroups-ydna.htm> ? this great resource contains a very briefdescription of each Haplogroup along with a list of links (if available).? Although Wikipedia should always be used with caution, the Human Y-chromosome DNAHaplogroups <en.wikipedia.org/wiki/Human_Y-chromosome_DNA_haplogroup> page containslinks to individual pages for many of the Haplogroups and a number of subgroups.? If all else fails, use a search engine to find pages that might contain more information.Most Haplogroups have multiple sources of information available. Don?t worry if these sources of


information conflict with each other ? the science is still developing and estimates change with every newdiscovery.

3. Does Anyone Match My Y-DNA Haplotype?

To learn more about our haplotype, and to potentially find other people who match our haplotype, we willuse two resources: the Family Tree DNA database and the free public Y-DNA databases that are available,specifically Ysearch <www.ysearch.org>.

Family Tree DNA automatically checks customers? results for matches within the company database as longas the customer has signed the release form allowing their name and email to be shared with their matches.Customers can view their list of matches in the Y-DNA Matches section of their myFTDNA page. Family TreeDNA lists the names and email addresses of any other participants whose DNA results are similar enough tobe potential genealogical matches. This list of matches can be filtered to show only matches at certain testinglevels or only matches who belong to the same project as you.

You can also search for matches in public databases. Since these databases function in similar ways, we willuse Ysearch as an example. Note that there are at least two ways to search each of these databases:

a. Search by Haplotype

At Ysearch.com, the user encounters a Welcome page. At the bottom of that page, click on ?Search forgenetic matches.? Then click on ?Click here to enter any sequence and search by Haplotype.? This brings


us to a screen where we can enter our example haplotype. Enter your haplotype and leave the otheroptions at their defaults with the exception of ?Show users that tested at least X of the markers that Idid? (set this to ?12?), and the ?maximum genetic distance? (set this to ?0? at this early stage of yourresearch).

The next screen is a list of the profiles that match our haplotype exactly with at least 12 of our markers.For our sample haplotype, we get over 900 exact matches (as of April 2009). R1b is very common, andas a result there are many R1b haplotypes in these databases. Note that some of these profiles mayoverlap with your Family Tree DNA matches.

If you didn?t get any matches using a genetic distance of ?0?, change it to ?1?, or ?2?, or more. Note thatyour closest matches will match by a genetic distance of ?0?; the more differences between haplotypes,the greater the amount of time to the most recent common (tMRCA) Y-DNA ancestor.

Interestingly, many of the matches in the Ysearch and Ybase databases have undergone SNP testing toshow that they belong to the R1b1b2 Y-DNA Haplogroup. This might suggest that our Y-DNA samplebelongs to R1b1b2, a sub-clade of Haplogroup R1b (see the SNP section, below).

Another way to use the database to search is to click on ?Create a new user.? This will allow you to createa profile that you can use to easily search for matches. This profile will be searchable by other users ofYsearch and will allow them to contact you for more information if necessary. Family Tree DNA


customers can use an automatic upload feature which will fill their results into the ?Create a new user?Ysearch page for them. This upload link is located just above the list of matches in the Y-DNA Matchessection of your myFTDNA page.

b. Search by Surname

Searching by surname is yet another way to find potential matches in public DNA databases. Thismethod of searching can even be used before a DNA test has been purchased. For instance, let?s assumethat we haven?t yet ordered a DNA test, and that our last name is ?Bettinger?. Has anyone else with thelast name ?Bettinger? ever been tested? What were their results?

To begin, go to the Ysearch database <www.ysearch.org>. At the top of the page is a button labeled?Search By Last Name? (there is also an alphabetical list of surnames, if you want to skip the searchfunction). Click on that, and enter ?Bettinger? in the first data field; press enter. As you?ll see, there iscurrently (as of January 2008) one person with the last name Bettinger in the database. Clicking on thatrecord reveals that this Bettinger belongs to Haplogroup R1b1.

If we already have our results, we can now compare our haplotype with the Bettinger who is already inthe database. There a number of ways to limit the search on the first page; I?ll let you explore theseoptions as you become more familiar with the database.


If you are interested in maintaining a permanent presence on Ysearch with your haplotype available forsearching, create a new user record. When new people go online to search for matches to their results, theywill be able to compare their haplotype to yours.

4. Should I Join a Surname, Geographic, or Haplogroup DNA Project?

A DNA project is a collaborative effort to answer genealogical questions using the results of DNA testing. Asurname project brings together individuals with the same (or very similar) surname, while a geographicproject gathers individuals by location rather than by family or surname. Other projects bring individuals together based upon their Haplogroup designation. DNA projects are run by volunteer Administrators whoare responsible for organizing results, sharing information, and recruiting new members to the group.

DNA projects can potentially provide a number of benefits to participants, including the following:

1. Confirm or reject suggested relationships between individuals in the project;2. Identify previously unknown relationships between individuals in the project;3. Confirm or reject the relationship of particular surname lines or surname variants (for example,do the Hoisington and Hossington surnames have a common source?);4. Identify or learn more about the surname?s country of origin;5. Learn more about the ancient ancestry of a surname and its variants;6. Learn more about the migration of the surname over time;7. Learn about the genetic origins of and contributions to a geographic region;


8. Assist in genetic genealogy research projects for publication (scientists have used the results ofDNA projects to learn more about human history ? see the JoGG <www.jogg.info> forexamples), and;9. Join a community of exciting genetic genealogists.

There are undoubtedly many more benefits to joining surname or geographical DNA projects. One benefitthat I left off the list is a financial one. Family Tree DNA offers testing discounts to project members. This isoften a great motivation to join a project, and also serves as a terrific recruitment tool. By the way, don?tworry if you?ve already taken a genetic genealogy test and later decided that you would like to join a DNAproject once you are in the Family Tree DNA system. It?s never too late to join!

A. How do I FIND a DNA Project?

Finding a DNA Project that you might be interested in joining is usually very simple. Here are three places tobegin your search:

1. Family Tree DNA <www.familytreedna.com/projects.aspx> ? The search box in the sidebarlets you search by surname or by location or country. For example, typing in ?Belize? leadsyou to two geographic DNA projects. You can also browse through the list of projectsorganized by name.
2. Family Tree DNA <www.familytreedna.com/login.aspx> - Family Tree DNA customers canbrowse and join projects using the ?Join Projects? link located in the left-hand menu bar ontheir myFTDNA page.3. World Families <www.worldfamilies.net/search/contentsearch> ? You can use the searchbox to search entire site.Using traditional search engines is yet a fourth way to search for projects, with search strings such as ?SmithDNA Project.? For this method, as well as the methods listed above, be sure to search for variants of yoursurname if you are unable to find an exact match.

B. How do I JOIN a DNA Project?

Now that you?ve discovered an interesting DNA project, you?re probably wondering how to become amember. Here?s how to join:

After finding a Project, you will see a contact form at the bottom of the Project?s introduction page. Usethat form to join the project and order a test. If you?ve already been tested, you?ll find the ?Join Project?link on your myFTDNA page. This link will take you to a search page to find an appropriate Surname,Geographic, or Haplogroup Project. For more information on joining projects, see the FTDNA FAQpage <www.familytreedna.com/faq/> or the World Families ?Join a Project?


I Have the Results of My Genetic Genealogy Test, Now What? Version 2.1 16<www.worldfamilies.net/join>.5.What if There is no DNA Project to Join?The answer to this one is simple ? start a new project! There is information at Family Tree DNA<www.familytreedna.com/surname.aspx?> and World Families <www.worldfamilies.net/request> aboutstarting a new DNA Project.B. SNP Testing ? Haplogroup DeterminationSingle Nucleotide Polymorphism (SNP) testing examines single nucleotides at specific locations on the Ychromosome (compared to STR marker testing, which measures short regions of DNA). Advanced SNPtesting is available after STR testing. Since a mutation at a single base is very rare compared to changes inSTRs, males who share a SNP usually share an ancestor who lived many generations or many hundreds ofgenerations ago. For this reason, SNPs have been used to identify the branches in the Y-chromosome familytree and define Haplogroups, as well as very, very distantly related people. For example, males who testpositive for the SNP M207 belong to Haplogroup R. You can see a chart of some of the most commonly testedSNPs at Family Tree DNA <www.familytreedna.com/deepclade.html> and <www.familytreedna.com/snpsr-us.aspx> or a full list of SNPs at ISOGG <www.isogg.org/tree/ISOGG_YDNA_SNP_Index.html>. So whywould an individual order a SNP test? Here are a few of the major reasons:1. To determine deep ancestry ? some individuals might be more interested in learning about the?deep ancestry? of their Y-DNA, rather than finding close genetic relatives. For them, the results of
SNP tests will typically tell them about their ancient ancestry.2. To confirm an estimated Haplogroup ? as we saw in previous sections, the results of an STR testcan be used to predict or estimate an individual?s Haplogroup. Since SNPs define Haplogroups, SNPtesting can confirm the estimate or re-define the Haplogroup based upon the results. Family offersboth a backbone haplogroup test to confirm predictions (or to identify the haplogroup where it cannotbe confidently predicted) and deep clade haplogroup testing.3. To determine a subhaplogroup designation ? some Haplogroups have multiple branches, calledsubhaplogroups or sub-clades. For example, Haplogroup R has branches such as R1b, which itselfbranches into groups like R1b1a and R1b1b (see the Y-DNA Haplogroup Tree ? please note it may takeseveral minutes to download). Deep Clade tests cover the SNPs defining these branches, or sub-clades.The results can often (but not always, depending on how well current research has covered yourhaplogroup thus far) place an individual into one of these downstream branches.1. How Do I Interpret My SNP Test Results?

To interpret results of a SNP test (other than the Haplogroup designation, which is always part of the resultsreturned to the customer), it is helpful to have the following references: (1) the Y-DNA Haplogroup Tree; and(2) the Y-DNA SNP index <www.isogg.org/tree/ISOGG_YDNA_SNP_Index.html>, which will help usinterpret the numbers and letters that make up the results.

Let?s use the following sample results as an example, which tell us that we belong to Haplogroup sub-clade


E1b1b1b1. What exactly does that mean?
 

Table 2. Sample Y-DNA SNP Results

 Your Y-DNA Belongs to Haplogroup E
Your SNP results are: M96+ P2+ M2-M35+ M78-M183+ M81+ M107- M165-M123-

Since the results report that our sample Y-DNA belongs to Haplogroup E, we can go directly to the Haplogroup E Tree. Let?s use our results, starting with the first SNP, M96. We tested positive for M96,meaning that we have that mutation. Looking at the chart, we see that M96 is characteristic of Haplogroup E.Thousands of years ago, members of Haplogroup E developed characteristic SNP mutations over time toform different branches or sub-clades such as E1 and E2. Our next SNP, P2+, is characteristic of sub-cladeE1b1. Comparing our sample SNP results to the tree, we get something like this (and it definitely helps todiagram the tree), keeping in mind that the ?-? after the test indicates that we are not part of this sub-clade:

M96+ E

P2+ E1b1

M2- E1b1a

M35+ E1b1b1

M78- E1b1b1a (not part of this sub-clade)

M81+ E1b1b1b

M107+ E1b1b1b1 (not part of this sub-clade)

M183+ E1b1b1b2


M165- E1b1b1b2a

M123- E1b1b1c (not part of this sub-clade)

Thus, our sample Y-DNA belongs to Haplogroup E, sub-clade E3b1b1 because we tested positive for the M183SNP. The negative results also help refine our placement by showing that we do not belong to E1b1a (M2-) orE1b1b1a (M78-), for example.

The Haplotree section of Family Tree DNA customers? myFTDNA pages draws a line designating yourposition on the tree and notes which SNPs you have tested positive and negative for, if you have had a SNPtest.

Don?t be discouraged if your results are presented as clearly or in the perfect order ? you can always put themin order to help make the results more clear. Also, sometimes SNPs will have different names or companieswill use different SNPs to test the same thing ? with a little research at the sites listed above, you?ll be able tofigure out what each SNP means. And lastly, now that you know your Y-DNA Haplogroup and sub-clade, youcan use the steps outlined above to gather more information.


Chapter 3

How Do I Interpret My mtDNA Results?

iStock_000002049980SmallmtDNA tests, which sequences regions of the mitochondrial genome, are availableto both males and females. The customer?s sequence is compared to a standardmtDNA genome called the Cambridge Reference Sequence (CRS), which isavailable at <www.mitomap.org/mitoseq.html>. All the differences between thecustomer?s mtDNA and the CRS ? ranging from none (i.e. a perfect match to theCRS) to many ? are returned as the customer?s results. These results can be usedto estimate the customer?s mtDNA Haplogroup and roughly estimate the amountof time to which individuals share a most recent common ancestor (MRCA).

Family Tree DNA performs Haplogroup testing for all mtDNA tests so only the subclade is predicted, when itcan be. Here is a chart of the mtDNA Haplogroups and their defining SNPs tested by Family Tree DNA:



Please note that the following is provided to anyone who might be unfamiliar with genetic genealogy. It iscomposed of my suggestions and is not necessarily the same suggestions that someone else would make.

1. What Is My mtDNA Haplogroup?

Family Tree DNA provides a Haplogroup along with the customer?s results. Thus I will only briefly mention onemethod for roughly confirming Haplogroup in a separate section (see #3, below). Remember that an mtDNAHaplogroup designation based on sequencing results is just an estimate! Family Tree DNA performs SNPconfirmation of basic mtDNA Haplogroups with all mtDNA tests.

To perform an example analysis of mtDNA results, we will use the sample haplotype given in the following table.As part of these results, we will assume that the testing company also informed us that the sample belongs tomtDNA Haplogroup U, and we can trace our mtDNA back to France.

 

Table 3. Sample mtDNA STR Results

 Region HVR1 HVR2
Differences From CRS 183C, 189C, 270T 73G, 150T, 263G, 309.1C, 315.1C

What does this string of numbers and letters mean? These letters represent mutations and are all thedifferences between your mtDNA and the universal mtDNA sequence known as the Cambridge Reference

Sequence (CRS). The CRS belongs to mtDNA Haplogroup H, and as a result individuals who have mtDNA inHaplogroup H often have fewer differences from the CRS than people who have mtDNA in other Haplogroups.

The results in HVR1 (Hyper-Variable Region 1) are often given as three numbers followed by a letter. Note thatthis is just a convention ? the three numbers should be preceded by ?16?. In our example, the HVR1 has threemutations, 183C, 189C, and 270T. This means that our mtDNA sequence differs from the CRS at positions 16183,16189, and 16270, with the letters given replacing the letters normally found in the CRS (this ?non-mutated?letter from the CRS often precedes the numbers, such as T16189C). Remember, of course, that the ?letters?represent the nucleotide bases Adenine, Thymine, Cytosine, and Guanine.

The results in HVR2 (Hyper-Variable Region 2) are also often given without the preceding ?non-mutated? letter.In our example, we have five mutations in this region of the mtDNA genome. The last two mutations, 309.1C and315.1C are both fairly common and represent an insertion of a new nucleotide base at that position. Thus,between position 309 and 310, we have an insertion of the nucleotide cytosine which is not found in the CRS.Another type of common mutation is the deletion of a nucleotide at a particular position in the mtDNA genome.This might be written as ?522-523delCA?, or ?522- 523-?, indicating that the individual?s genome has lost thecytosine and adenine which are normally found at position 522 and 523, respectively. That genome would godirectly from the nucleotide at position 521 to the nucleotide at position 524.

2. How Do I Learn More About My mtDNA Haplogroup?

Since we have a rough idea of our Haplogroup (U), we will want to learn as much as we can about thatparticular Haplogroup. Here are some links that provide information about many of the major mtDNA


Haplogroups (but there are many, many more):

? Family Tree DNA <www.familytreedna.com/login.aspx> - Family Tree DNA displays haplogroupdescriptions in the mtDNA Results section of customers? myFTDNA page.? Charles Kerchner?s MtDNA Haplogroup Descriptions & Information Links

<www.kerchner.com/haplogroups-mtdna.htm> site contains a very brief description of eachHaplogroup along with a list of links (if available).

? Although Wikipedia should always be used with caution, the Human mitochondrial DNAhaplogroup <en.wikipedia.org/wiki/Human_mitochondrial_DNA_haplogroups> page containslinks to individual pages for many of the Haplogroups and a number of subgroups.? If all else fails, use a search engine to find pages that might contain more information. There aremany websites devoted to sharing information about particular Haplogroups.As I mentioned in the discussion of Y chromosome Haplogroups, the science of genetic genealogy willcontinue to grow and develop for many years. As a result, the information will continue to change and berefined, so don?t worry if the sources of information you find conflict with each other. Scientists andgenealogists are still learning about DNA, which is just one of the reasons so many people enjoy geneticgenealogy!

3. Does Anyone Match My mtDNA Haplotype?

To learn more about our haplotype, and to potentially find other people who match our haplotype, we will


I Have the Results of My Genetic Genealogy Test, Now What? Version 2.1 25use two resources: the Family Tree DNA database and the free public Y-DNA databases that are available,specifically Mitosearch <www.mitosearch.org>. As we find matches, we will also be gathering informationabout our Haplogroup designation. If we see that a person who closely matches our sequence, we cancompare their Haplogroup designation to ours. This isn?t an exact method when using public databasesbecause it relies on second-hand information input, but it is an interesting exercise.Family Tree DNA automatically checks customers? results for matches within the company database as longas the customer has signed the release form allowing their name and email to be shared with their matches.Customers can view their list of matches in the mtDNA Matches section of their myFTDNA page. Family TreeDNA lists the names and email addresses of any other participants whose DNA results are similar enough tobe potential genealogical matches. This list of matches can be filtered to show only matches at certain testinglevels or only matches who belong to the same project as you. You can also view the Haplogroup designationsof your matches in the mtDNA Ancestral Origins section.Let?s use Mitosearch as a model for searching public mtDNA databases. Similar to Y-DNA databases, thereare multiple ways to search Mitosearch. Note, however, that searching by surname is not an option forMitosearch since mtDNA does not usually follow the surname line in a family tree.a. Search by HaplogroupAt Mitosearch, the user first encounters a Welcome page. At the top of the page, click on ?Search By
Haplogroup.? From the drop-down menu, pick the Haplogroup and, if known, select the country oforigin. For this example we will pick ?U? and ?Western Europe?. We get a little over 30 users, some ofwhich appear to originate in France. To compare these results to ours, click the box marked ?compare?to the left of the result and then click the word ?compare? at the top of that column. Hit ?show? on thenext page, and the results are lined up in a convenient table for us to look at. By comparing our resultsto the table, we see that as of March 2008, none of these results match ours exactly. It might beworthwhile to go back and compare sequences from other countries or regions, but perhaps the bestapproach might be the next section, search by haplotype.

b. Search by Haplotype

At the Welcome screen, click on ?Search for Genetic Matches.? Then proceed to the bottom of the nextpage where we will ?Search by Mutations.? Since we tested both the HVR1 and HVR2 regions in oursample results, we will search by both (but I recommend that you click the box that searches for HVR2matches, but doesn?t rule out matches based on HVR2). Enter in your results. Remember that thereshould be three numbers in each box, so our ?73? mutation will be entered as ?073?. Additionally,insertions (309.1C) and deletions (522-) must be entered carefully. Click on search.

The results show that as of March 2008, our sample mtDNA has 4 individuals who match our HVR1sequence but did not test their own HVR2 region, and two people that match both HVR1 and HVR2exactly. For more information about our matches ? such as surname & location ? click on the User ID.

So, the results of our search show that we have a number of exact matches and some other potential matches.


We could then contact those individuals if we believe there might be some genealogical connection. If you areinterested in maintaining a permanent presence on one of the DNA databases with your haplotype availablefor searching, create a new user record. When new people go online to search for matches to their results,they will be able to compare their haplotype to yours.

4. Do I Belong to a Particular ?Subclade? or ?Branch? of My Haplogroup?

Sometimes mtDNA results will list a Haplogroup designation (such as H) without listing a particularsubclade or branch of that Haplogroup (such as H1, H2, H2a1, H2a2, etc?). This might be because (1) thesample matched the haplogroup but none of the subclades, or (2) the sample was not tested or analyzed forsubclade designation. When in doubt, it might be helpful to email your testing company to determine whichmight be the case. Additionally, you can test your mtDNA full genomic sequence (FGS) to identify yourHaplogroup subclade within the currently known tree, and you can continue to identify your placement inthe tree as additional research is completed. And lastly, you can attempt to deduce a potential subclade usingthe mtDNA databases we?ve already discussed. Looking back at the last section, when we entered in oursample test results we obtained six potential matches, 4 who matched our HVR1 results and 2 who matchedboth our HVR1 and HVR2 results. Five out of those six individuals are reported to belong to HaplogroupU5b. This suggests, but does not prove, that our sample mtDNA might belong to U5b. What is even moresuggestive is that the matches have been tested by more than one company, meaning that at least twodifferent companies interpret our mtDNA sequence to belong in U5b.


5. Should I Join an mtDNA Project?

Just like for Y-DNA, mtDNA projects bring together individuals with a similar Haplogroup designation orgeographic location. DNA projects are run by Administrators who are responsible for organizing results,sharing information, and recruiting new members to the group. Joining a project may result in a number ofbenefits to the individual, the project, or the Haplogroup. Additionally, joining a project before being testedresults in a testing discount, but it?s never too late to join a project. Since finding, joining, and starting anmtDNA Project is very similar to the steps I described above for Y-DNA, I won?t repeat them here.


Chapter 4

How Do I Interpret My Family Finder Results?

In this new chapter added by Family Tree DNA, we explore new autosomal testingthat has become available since the eBook?s initial publication: the Family Findertest.

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This autosomal test, available for both men and women, examines SNPs (singlenucleotide polymorphisms) across the 22 autosomal chromosome pairs. These chromosomes contain DNA fromall sides of your family. The Family Finder test examines hundreds of thousands of SNP positions and uses theresults to find recent relatives and geographic origins.

A. Family Finder Testing

For the purpose of understanding how the results are used, we will look briefly at the raw data generated by theFamily Finder test. Please keep in mind that you will probably never need to view your own raw data.

Autosomal chromosomes, or autosomal DNA, are inherited from both parents and mixed from one generation tothe next. Every person has 46 chromosomes in total, 23 from each parent. 2 of these 46 chromosomes are the sexchromosomes. The other 44 are autosomal chromosomes.


The autosomal chromosomes come in pairs, with one chromosome from each parent in every pair. The 22 pairsare numbered 1 through 22. Testing autosomal SNPs yields two results for each SNP because the same positionin the DNA sequence exists in both chromosomes in a pair. The two results may not be the same, though,depending on what DNA you received from your parent.

Here is a brief example of what these results look like:


 

SNP1 AA
SNP2 CT
SNP3 AG
SNP4 TT

What do the letters mean? Each letter refers to a base in the DNA sequence (similar to a letter in a sentence).The four bases are represented by the letters A, C, G, and T. Two A?s mean that the SNP result on bothchromosomes is an A. One C and one T mean that one of the chromosomes has a C for this SNP and the otherhas a T.

A homozygous (homo = same) result is when both letters are the same, like AA. A heterozygous (hetero= different) result is when the two letters are different, like CT.

We cannot tell which result is from which chromosome; in other words, we cannot tell whether it was yourmother or your father who gave you the C in SNP 2.

When used by the thousands, SNP results from two different people can be compared to find if they are related ina recent time frame and, if so, how closely related they are. We can also compare the results with populationsthat have been tested around the world to find out the regions of the world where your ancestors most likelyoriginated.




B. Relationship Testing (Family Finding)

How does it work? Just as you have two of each chromosome, your parents do, too. The chromosome 1 youreceived from your mother is a mix of the DNA from both of her chromosome 1s, and the chromosome 1 youreceived from your father is a mix of the DNA from both of his chromosome 1s.

Let us call your father?s chromosome 1 pair Chromosome 1A and Chromosome 1B. Chromosome 1A came fromyour father?s father, and Chromosome 1B came from your father?s mother. During sperm creation, Chromosomes1A and 1B trade large sections of their sequence to build a unique new Chromosome 1 that is ultimately passeddown to you. Your chromosome 1 from your father contains a chunk from Chromosome 1A, then a chunk fromChromosome 1B, etc. This process is called recombination.

For example, in the picture of a chromosome below, imagine this is a chromosome you inherited from yourfather. The sections in blue are from your father?s father, and the sections in orange are from your father?smother.

Recombination takes place in all the autosomal chromosomes you inherit from both of your parents.

Because DNA is exchanged in sections, SNPs that are found close together on a chromosome are likely to belongto the same section and to be inherited together. When we search for matches, we?re not just looking for what %


of SNPs match between two people. After all, we humans share well over 99% of our genome with all otherhumans. Instead, we are looking for sections of many SNPs in a row that match. The segments? size is a keyfactor in determining whether and how closely two people are related.

Family Finder is a ? identity by descent (IBD) test

When two people share the same segment of DNA, they are identical by state (IBS). In other words, the stateor sequence of their DNA is identical. This could either be because they share a common ancestor and inheritedthis same DNA from that common ancestor, or it could be by coincidence. If they did inherit the matching DNAfrom a common ancestor, then they are identical by descent (IBD) meaning the reason they are identical inthis segment is that they descend from a common ancestor.

? IBD means that only half of the result needs to match between two people in order for them to be related. Forexample, if your result for a particular SNP is AG, the A from one of your chromosome pair and the G from theother, then at that SNP you match anyone else who has at least one A or at least one G. You are also a match toanyone else who has both (AG matches AG), but it is not necessary to share both letters in order to match at theSNP. This is because you get one of these from each side of the family; someone related to you on your father?sside would not be expected to match the DNA you received from your mother?s side, too.



Generally when two people share a large segment in common, that segment is IBD. On the other hand, it is verycommon for people to have small segments of DNA that are IBS but not IBD, especially among members of thesame population group, because the same DNA has been circulating in the population for many generations. Iftwo people inherit a segment of DNA from their common ancestor but the segment of DNA is too small, wecannot tell whether it is IBD. In those cases, a connection between the two people is either speculative or notsuggested at all.

Don?t worry if your distant relatives test and do not show up as a match to you. The more generations there havebeen since two people share a common ancestor, the smaller and fewer the segments of DNA they share. Afterenough generations have passed, even though both could have inherited some DNA from a common ancestor,they may not have inherited the same segments of DNA as one another and the relationship cannot be detected.

Relationships can be detected up to 3rd cousin. Sometimes more distant relationships can be detected if the twopeople inherited enough of the same DNA from their shared ancestor.




1. Does Anyone Match My Family Finder Results?

To find other people who match your Family Finder results, we will take a look at the Family Finder?s Matchesand Chromosome Browser sections.

Family Tree DNA automatically checks customers? results for matches within the company database as long asthe customer has signed the release form allowing their name and email address to be shared with their matches.Customers can view their list of matches in the Family Finder Matches section of their myFTDNA page.Customers can visually compare their matches to see what portions of their chromosomes they share in commonusing the Family Finder Chromosome Browser tool.

What does the Family Finder Matches section tell me about my potential relatives? Here you canfind the names and likely relationships of the people you match. Under each person?s name is an envelope icon( ) you can click to email your match. You can also click the paper and pencil () to write notes to yourselfabout this match, such as whether you have contacted him, what actual relationship you think you share, orsomething similar about your ancestry that you think might lead you to find your family connection. Finally, ifyour match has uploaded a GEDCOM file into the system, you will see a third icon () you can click to viewyour match?s family tree.


The suggested relationship tells you the likeliest relationship you have with your match, while the relationshiprange tells you the possible relationships you have with your match. Occasionally, especially for speculativematches, a person will be related to you more recently or more distantly than the relationship range shows,depending on the amount of DNA you have in common.

Next come two columns showing cM (centiMorgan) values: Shared cM and Longest Block. A centiMorgan (cM) isa measurement of how likely a segment of DNA is to recombine from one generation to the next. A single cM hasa 1% chance of being broken apart and recombined in one generation. The shared cM number is the total size ofall of your shared blocks of DNA. The longest block number tells you how big the largest segment of DNA youshare is. People who are more closely related tend to have higher values for both, but the actual values vary frommatch to match depending on the size of the segments you happened to inherit in common.




The last two columns are pieces of information you and your matches can enter to share with one another. Theknown relationship column is a place where you can enter the actual relationship when you know exactly howyou are related to your match. Your match will have to confirm the relationship is correct before it is listed in thiscolumn. The last column shows the ancestral surnames entered by your match. You can enter your ancestralsurnames in the User Preferences section of your myFTDNA page or by uploading a GEDCOM, or family tree file,and then importing the surnames. See the Family Finder FAQ for more details about this chart and instructions


I Have the Results of My Genetic Genealogy Test, Now What? Version 2.1 38on how to enter known relationships and ancestral surnames:http://www.familytreedna.com/faq/answers.aspx?id=33You can filter your Family Finder matches based on how closely related they are to you, whether they share asurname in their list of ancestral surnames, whether you have entered a known relationship, and whether theyare new matches since the last time you logged in. Here is a legend to how the filter divides matches byrelationship:ImmediateRelativeParent/Child, Sibling, Half Sibling,Grandparent/Grandchild, Aunt/Uncle, Niece/NephewClose Relative 1st Cousin to 2nd CousinDistant Relative 3rd Cousin to 4th CousinSpeculativeRelativeMay or may not be related, probably more distant than 4th Cousin



If you have also tested Y-DNA or mtDNA, you may be interested in comparing your list of Family Finder matcheswith your closest Y-DNA and mtDNA matches to see if any are on both lists. An exact match at the highest levelof Y-DNA or mtDNA testing may or may not be close enough to be detected as a Family Finder match, but youcan certainly compare your matches sections to find out. For example, if someone matches you in Family Finder and is a close match on Y-DNA, then the relationship found by the Family Finder test is almost certainly thesame common ancestor you share on the Y-DNA line.

How can I see what portions of my DNA I inherited in common with my matches? The ChromosomeBrowser tool is an excellent way to visualize how much of your DNA and what sections of your chromosomes youshare with your matches.

In the Family Finder Chromosome Browser section of your myFTDNA page, you can choose up to 5 of yourFamily Finder matches to compare at once. If you compare matches and find that you share one or more of thesame segments with multiple people, that segment may have been inherited from a single ancestor that all of youshare. It can be helpful to compare a known cousin with other unknown relatives to see if some of them share thesame segments. If so, they may be related on the same side of the family as your known cousin. When you arecomparing matches, you can click on their name to view more details about the match, including a space to enternotes.

Here is a sample comparison in the Chromosome Browser:



The blocks in orange and light blue represent segments of DNA shared with this person?s two selected matches.All 22 chromosomes are represented in descending order. Some sections overlap, but many segments do not.This person is probably related to these two individuals through different family lines.


Don?t worry if you find that two of your matches share the same significant segment of DNA with you but, whenyou communicate with these matches, you discover they do not match one another. At first, it can seem thatthere must be an error and that they should match one another. However, this is not necessarily the case. Almostalways in this situation, one of your matches is related to you on your father?s side and one on your mother?s side,and they are not related to one another. They can match on the same segment of the chromosome and not berelated to one another because you have two of each chromosome. Here is a simplistic example:

At a SNP, your result is AG, meaning one of your chromosomes has an A for this marker and the other has a G.Remember one of these came from your mother and one from your father.

At the same SNP, your first match?s result is AA. Both of his chromosomes have the A. His result is not exactlythe same as yours, but since most of your relatives are related on only one side of the family and not both, it onlytakes one matching letter for the SNP to match. You match him at this SNP because you both have an A.

Also at this SNP, your second match?s result is GG. Both of her chromosomes have the G, and you match her atthis SNP because you both have at least one G.



However, your first match and your second match do not match one another: AA and GG do not share anythingin common. Further, since you inherited your A from one parent and G from the other, the one who matchesyour A is related through the first parent and the one who matches your G is related through your other parent.



Two people are a match when a very large number of SNPs in a row match. If there are many places where youhave a result like AG and your two matches are AA and GG, then your two matches differ from one another at toomany places for this to be a segment of DNA they share in common. Because of this, they do not show up as amatch to one another even though they are both related to you and coincidentally match you in the same orsimilar segment of DNA.


2. Should I Join a Project?

A DNA project is a collaborative effort to answer genealogical questions using the results of DNA testing.Surname Projects bring together individuals with the same or very similar surname; Geographic Projects gatherindividuals by location. Some projects are focused exclusively on one type of testing, such as Y-DNA testing.Other projects focus on one type of test but include others as additional information. If you are unsure whether aproject accepts or uses Family Finder test results, contact the project?s volunteer administrator to find out.

There is a type of project that is specifically for Family Finder results: Family Finder Projects. These are veryspecialized projects and tend to focus on known descendents of a particular ancestor in an effort to learn moreabout that ancestor?s DNA. Because of their specialized nature, these projects operate by invitation only.

C. Population Testing (Searching for Origins)

Autosomal results can also be compared with populations from around the world to see which ones your DNAresembles the most. Only some populations in the world have been tested, but we can still use those populationsto represent the regions of the world. With this comparison, it is possible to estimate what % of your DNA isinherited from ancestors of indigenous European, American, African, Middle Eastern, and Asian origin.Sometimes it is even possible to point to subcontinents, depending on how closely your DNA fits the referencepopulations.


You can find the results from this analysis by checking the Population Finder section of your myFTDNA page.

1. How Do I Read My Population Finder Results?

In your Population Finder section, you can find the breakdown of your origins based on how well your DNAmatches the populations in the database. Over time more world populations may be tested to compare you with,which would have a minor effect on the breakdown of your origins shown in this section.

You can use the chart in either the default bar graph or in the pie chart option to see how much of your DNA fitswith what region of the world. The world regions are broken down into continents and major subcontinent areas,such as Europe (Western Europe). If your DNA does not clearly fit into a subcontinent, you will just see thecontinent listed. Here is a sample from a person with European and African origins:



The map gives you a general idea of where your ancestors came from based on the populations you did and didnot match. Your ancestry is not absolutely restricted to these colored areas, but is most likely from these places.



Also provided are the world populations you matched from each region, such as:



Remember that not all populations in the world have been tested, so these populations are similar to but notnecessarily the same as your own ancestral populations. For example, if your matching populations include


Finnish, French, and Tuscan, but you know at least some of your ancestry is from Germany, these results do notconflict with what you know about your ancestry; all of these populations are from Europe.

D. What Can Family Finder NOT Do?

1. The results of this testing still does not include a family tree. DNA alone cannot tell a person who their great-grandmother was, or what Italian village their great-great grandfather came from. Genetic genealogy is anaddition to traditional genealogical research, not a replacement.

2. Autosomal testing cannot detect a relationship if the two individuals did not inherit any of the same segmentsof DNA from their common ancestor. Family Finder does not control what you inherited from your parents, orwhat your parents inherited from your grandparents. In other words, if the relationship is too distant or you justdid not happen to inherit the same segments of DNA from your common ancestor, the DNA test cannot detectthe relationship. This only tends to happen when the relationship is more distant than 3rd cousin.

3. Autosomal testing also cannot confidently detect a relationship if two individuals inherited only very smallsegments of DNA in common from their shared ancestor. That is because humans already have extremely similarresults to one another, so two random people can also match on very small segments of DNA without havingshared a recent common ancestor.


4. This test still only surveys a small portion of your genome. We select positions in the DNA that are known tosometimes differ between unrelated people, which gives us the best opportunity to find variety and distinguishbetween related and unrelated people. However this is not the same thing as a full genomic sequence.

5. The Family Finder test also avoids DNA positions that have known medical implications as this test isdesigned to be for genealogical and anthropological purposes only.

E. Additional Resources

1. Chromosome Browser Tutorial. You can find this tutorial in the top right corner of the ChromosomeBrowser section of your myFTDNA page

2. Frequently Asked Questions ? Family Finder: http://www.familytreedna.com/faq/answers.aspx?id=33

3. Frequently Asked Questions ? Population Finder:http://www.familytreedna.com/faq/answers.aspx?id=22


Chapter 5

Monitoring The Field Of Genetic Genealogy

Now that we?ve learned a little about genetic genealogy and how to begin tointerpret our testing results, how do we continue to learn more and stay up-to-dateon the latest news and developments in the field? Luckily, there are many ways tofollow developments in genetic genealogy. The following is a list of just some of themany valuable resources that are available:

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1. Family Tree DNA Forums are a great place to share and find information about almost anygenetic genealogy topic. Both newbies and experts participate in the Family Tree DNA Forums<forums.familytreedna.com/>.2. Yahoo Groups is another method of following the field and is free to join. The DNA-NEWBIEgroup <groups.yahoo.com/group/DNA-NEWBIE> (created in July 2005) has over 1,900members who post an average of 350+ messages a month. The DNA-ANTHROGENEALOGYgroup <groups.yahoo.com/group/DNA-ANTHROGENEALOGY> (created in October 2005) hasover 1,000 members who post an average of 175/month. The DNA-Testing group<tech.groups.yahoo.com/group/DNA-Testing> (created in July 2008) has 180 members. Onegreat feature of Yahoo Groups is that you can set your email preferences to receive every


message separately, or receive groups of messages, or receive no messages (and then you canindependently monitor the site at your leisure).3. The International Society of Genetic Genealogy (ISOGG <www.isogg.org>) was foundedin 2005 by DNA Project administrators ?to advocate for and educate about the use of genetics asa tool for genealogical research, and to promote a supportive network for genetic genealogists.?Membership in the society is free.4. The Journal of Genetic Genealogy (JoGG <www.jogg.info>) is an online science journaldevoted entirely to genetic genealogy. The Journal is open-access, meaning that it is freelyavailable to everyone. The JoGG welcomes article submissions about a range of topics andpublishes two issues a year.5. Family Tree DNA Newsletter is a free newsletter which announces current events at FamilyTree DNA and upcoming educational opportunities, and also includes educational material on avariety of topics and questions. You can view past issues <www.familytreedna.com/news-letter.aspx> of the Facts and Genes newsletter and subscribe <www.familytreedna.com/facts-and-genes-register.aspx> from the Family Tree DNA website.6. Genetic Genealogy-Related Websites offer a wide variety content and links for moreinformation. Roots Television <www.rootstelevision.com>, created by Megan SmolenyakSmolenyak and Marcy Brown, has free online videos about many aspects of genealogy. One of


I Have the Results of My Genetic Genealogy Test, Now What? Version 2.1 50Roots Television?s channels, the DNA Channel, has interviews, success stories, and recordings ofprofessional presentations. Another great website is that of Charles F. Kerchner, Jr. Kerchner's DNA Testing & Genetic Genealogy Info and Resources Page <www.kerchner.com/dnainfo.htm> contains information about genetic genealogy for both the beginner and the expert.7. Blogs are yet another way to stay up-to-date. I can think of one great blog in particular<www.thegeneticgenealogist.com>, if I do say so myself! Another blog devoted to genetic genealogyis Genealem?s Genetic Genealogy <genealem-geneticgenealogy.blogspot.com>.

For More Information:



If you?ve read through this eBook and you are still looking for more information (good foryou!), then I recommend ?Trace Your Roots With DNA: Use Your DNA to Complete YourFamily Tree? (affiliate link) by Megan Smolenyak Smolenyak and Ann Turner, M.D. This bookdiscusses and clearly explains topics ranging from the basics of genetic genealogy to tips aboutcreating and running your own DNA Project. I highly recommend the book for anyone who isinterested in genetic genealogy, and especially for anyone thinking about starting a DNA Project.





 

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