30 May 2013

AncestryDNA- Should You Test and What Do You Get?

Note the phone number and warning that this is currently
available in the U.S. ONLY.
We've now covered basic genetic knowledge, the kinds of tests available to genealogists, and setting expectations before testing. Today we're going to explore one of the companies that provide genetic testing: Ancestry.com

Ancestry.com has provided Y Chromosome and mtDNA testing in the past, but has jumped into the autosomal testing in the last year. You can order a Y Chromsome, mtDNA or combination of both here.  Currently, their focus is on the autosomal test, so if you select DNA from their dropdown menu, the page to the left is where you'll land. And because of it's popularity and my own genetic genealogy desires, their autosomal test is the one I took and will be reviewing for the most part (as well as providing a fabulous "how-to"!). But I wanted to be clear for those interested that the other options are still there, just tucked away.

Why Choose Ancestry.com?
Of all your options, why should you consider Ancestry.com for your genetic testing? The best argument is the same one I'd give you for regular genealogy: It's the largest online repository for genealogical research. It has over 2.5 million subscribers (last time I checked) and that doesn't include all those folks taking the DNA test without subscribing to the research service. If you choose to include regular research along with genetic testing (which I whole-heartedly recommend), they will give you a jump start like you won't believe! And on top of all that, they have affiliate sites that include specialty records, photo sharing, and community forums at discounted rates (or free) that can help you take your research even further.

It's basically a "one stop shop". You take a DNA test, build a tree, compare matches and reinforce with documents all in one place. The famous hint leaf system will help give you clues along the way. And if you test your Y Chromosome or mtDNA with another company, you can transfer your results to Ancestry.com by following the instructions here. So even when you don't test with Ancestry, you can still use the system of members and hints to build your family history in ways many other genetic genealogy sites can't do simply because they don't provide family tree options!

AncestryDNA Home Page
Getting Started
So on Ancestry.com's home page, there is a row of dropdown menus along the top (grey bar). One is marked "DNA". Click on that one and you'll be taken to the aforementioned autosomal offer page. If you have a test already, or set up a purchase of one, the page to the right is what you'll see. I have one test completed, one test in progress. When the test is activated, you'll see a progress bar that will show you the status of your test from purchase to completion. Like most companies, they batch the tests (I believe updates are Thursdays), so you don't need to check daily. But you will. I did. For a month. Every. Day. Anyway, back to this DNA home page. If you order one test and want another, the right hand side has a box for buying another test. Above that you'll notice a green box with "BETA Send Feedback". A BETA anything is a test. I want to be very clear about this. Ancestry.com's autosomal DNA test is so new that we're getting it while they are still refining how they want it all to go. If you don't like something, don't think it's as accurate as it should be, or want a feature added, click the feedback button and tell them about it. Changes won't happen overnight, but if you don't provide the feedback with that button, they may not happen at all!

So you order your test, get it in the mail and activate it. Your next step is the settings for the test. You'll need to decide if you want email notifications of new matches weekly, monthly or not at all. Why would you choose to not get emails? Many people, including myself, didn't take this test for anything more than learning their ethnicity mix. Now, I'm also a thorough blogger, so I've used the other options of connecting to cousins and such, but it wasn't my focus. And it's not going to be the focus for everyone. After that is your privacy settings. You can show your real name or a user ID or something else. If the test is for someone else with you just administering the test, then their initials will show with a note that you're the administrator and that's it. The other privacy option is to show only matched ethnicities to other people. You'll see all your ethnic percentages, but your matches will only see the ones they have in common with you. Anything else will be marked as "other" to them. I'm not sure how this helps protect your privacy more than just making you feel like it does.

The grey box to the right is very important. When you first activate a test, you see the terms and conditions of a research project using AncestryDNA's results and have to accept or deny them before continuing. If you wish to review them, there is a link here. I like the idea of printing this out to show relatives I want to get samples from. The project is much like National Geographic in that they are trying to map humanity for language, culture, and migratory patterns. They also provide medical information to the study, so for those of you worried about handing that information out willy-nilly, you can opt out of participation when activating the test. If you do participate, your personal information will be stripped away. If at any time you change your mind, just email consent@ancestry.com to remove part or all of your information from the project.

 The next portion of the box is where you get your raw results. What are "raw results"? Simply put, it's your DNA codes. It's the information that Ancestry has found and uses in their program. Why would you want to download your raw results? There are many other websites that will accept the results to connect to their pool of participants. Also, you can use the results to try other ethnicity calculators and compare that to what you found on Ancestry.com. There are other third-party tools that will tell you about medical issues you have inherited. I'll cover third-party websites in their own posts. Many people clamored for raw results, because this is our information and we deserve to know what it says. Plus, there are tools that Ancestry hasn't implemented yet that are useful and other sites provide us access until Ancestry catches up.
Below the raw results download is a delete button. DO NOT DELETE YOUR TEST . If you want to lose the ability to connect to other people, access your ethnicity or your raw results, go ahead and delete. It removes your test from Ancestry's system. They don't store your sample, so this is all they know about you. You delete it, and that's it. Game over, man. I think the only reason I would use this is if a relative wanted the test, but didn't want it attached to my tree. I'd still download the results before deleting, but I would respect my family's wishes too.
Attaching Your DNA to Your Tree
In the settings, you can option to add your results (or the results of a relative) to your Ancestry.com tree. You don't have to have a tree on Ancestry.com. You don't even have to be a member of Ancestry.com to get a DNA test. Like I said, some folks are just curious about their ethnicity and have no desire to compare their results with others. But for the rest of the community, a tree is helpful. More valuable still is a well-sourced public tree. I'm not here to chastise private tree owners. You have your reasons and I respect that. I simply think a public tree will do you good. A public tree means you don't have to be the only one finding the connection. Your cousins can help! So you don't want to open your whole tree up to scrutiny (or you don't have any interest in research and currently don't have a tree on Ancestry), make a direct line family tree public to attach your DNA to so others can see it. It may be all they need to find how you are related. And I mean more than four people here! Your matches are confidently placed within 10 generations (but can be farther back), so put as many ancestors as you know for sure to give them a hand.
Another reason you'll want a tree is that you'll get hints on the DNA page for any common surnames or ancestors. So if you make a tree or already have one, while you wait for your DNA to process, go ahead and check your tree for errors. The test can take 6-8 weeks to process AFTER they receive your kit back at the lab, so you have time to do some house cleaning. Make sure surnames are spelled correctly. Remove any special characters (* _ # $ % &) that can screw up a search. Remove married names from a woman's profile. Either have her maiden name, or leave it blank. UNK or Unknown show up as their own surnames and will not lead to a hint unless I also claim her surname is UNK. Add locations if you have them! The system will show if you have surnames in common, but we all know that not everyone with the same last name is related. If I click on "Brown" in your surnames and you have Michigan listed as a location, I've got a head start on finding our connection. (And if the location says California, I can safely assume that's probably not our connection).
If you find a person who doesn't have a tree or has a private tree (and trust me, you will), give them a message to say hi and ask to connect. If they don't respond, what have you lost but a few seconds of time? If they do, imagine all that you'll gain! So what if you're like some of my friends and don't know what to say? Well here's the form letter I use, you are welcome to fit it to your purposes. (A note, I am now on a third-party site called Gedmatch.com which I will cover in a later post and have added that info to my message)


My name is (name here ). AncestryDNA has matched me to you as a genetic cousin. I have a public tree (link here) on Ancestry.com that you can peruse to see if you notice any common names or locations. If you prefer, I would be happy to do the legwork for you if you invite me to your tree. I have recently added my results to Gedmatch.com (Kit #) if you have uploaded there as well and would care to compare. In any case, I appreciate the time you took to read this message and hope to hear from you soon.

Thank you,

And this seriously works. I've messaged 50 private tree owners and been invited to 10 trees, had 4 tell me of my connection rather than invite, 3 tell me that the test was for a relative and they weren't researching that line, and one tell me straight out that they weren't interested in connecting. Others haven't responded, but I don't take that as a bad thing. Maybe they haven't been on the system lately. I can wait. There's so much to do right now!
My Experience
So now I'll wrap up with what I'd consider the review portion. I ordered the test in early April. It arrived at the house in a week and was back in the mail next day (I had the sample given within minutes I was so excited!). About a week later I received confirmation of receipt at the lab. Early May I had my results. Shown here is my ethnicity mixture. I wasn't surprised by the Central European. And the British Isles was to be expected I guess. I do have an Irish Great Great Grandfather on one side and a British Great Grandfather on another. But the Scandinavian was weird. I can assume that it was an invading Viking force.......... or I can assume that Ancestry's test is a bit skewed, which they have admitted. Either way, I didn't know what I was expecting, but wasn't terribly shocked. I will note that the proven line of Native American and the semi-proven line of Lithuanian (Eastern European) didn't show up. When I remind myself that ethnicities can drop off, it's easier to swallow. This is why family trees and documentation are still so very necessary. DNA won't prove or disprove anything on it's own. It's just one piece of our puzzle.
Since ethnicity was my main focus, I was pretty satisfied with the $99 I slapped down for this test. But I decided to check out the results for matches. Now, I will admit I played fast and loose the first couple of days and when I started to seriously want to connect to these folks, I suddenly felt very overwhelmed. So while your test is processing, make a spreadsheet, get a notebook, do whatever to start your research in an organised way. I took some time and made a spreadsheet with my surnames in it (with locations!) in a column. Then I add each person in a new column and list their surnames. I add those surnames to the first column if new, highlight with grey if matched. If I prove the match, I highlight in blue for dad's side, pink for mom's and green for shared by both parents (they are 3rd cousins afterall). I had one good 3rd cousin match, about 80 4th-6th cousins and hundreds of 7th+ cousins. The 3rd cousin is a private tree and hasn't been on since January, so I hold out hope for her. I've connected to 3 of the 4th cousins and proven them to my family lines (including one private tree owner who had the sister of my 6th great grandmother as his 6th great grandmother, but not her family which I had). I also connected 2 8th cousins via tree hints. The rest are spreadsheeted and I'm working on the remaining 4th-6th cousins at the moment. It'll be work, but it's worth it.
There's so much more to cover, more than I could answer in one post without confusing some and boring others. Thankfully, Ancestry.com has a Learning Center and help section. Here is the link to the Frequent Questions. There is a video there and on their YouTube channel. Read all that you can on the website. Know what you are paying for. Join discussions in the forums and on Facebook pages before and after you test. I have many friends who are interested in the test, but haven't taken one yet. They still belong to many groups including my new one Gedmatch Discussion Group where newbies and intermediaries help each other learn about this and other genetic genealogy sites. Even if you don't join my group, join someone's. Ask questions, everyone has them. There's just so much to know.
I will end by saying that my experience was so positive that I've ordered another test for a maternal cousin. I have made a list with the help of my mother for another of our cousins (to confirm maternal connections), her sisters (one half, one full), and herself. My father has some serious concerns about DNA testing, however, and will not participate. I respect that and am withholding from asking cousins on that side for the moment. Still, the results I've gotten from this test have really helped my research and confirmed a bit of my paper trail. It's also given me a rather scary prospect as some cousins have a surname in their lists that is very familiar to me........... as the possible surname for my grandfather's real father. It's not something I'm ready to pursue at this moment, and I have a Y Chromosome test out on my brother with another company, so I'll back burner that development in favor of other connections right now.
Do yourself one favor, don't backburner a DNA test. The price is right at $99. It's cheaper than it's ever been before. More accessible than it's ever been before. If you are ready for the ride, all you need is to buy a ticket.

27 May 2013

It's a Mad World

My tree

I love graphics. It's easier to explain complicated issues to others with a graphic or two. It's easier to understand them yourself! Sometimes, a good graphic can show you what you're missing. And what we're missing can hurt our research... To the right is my pedigree chart from Ancestry.com. The pink line is my direct maternal line. I am a female, so I can take the mtDNA test and learn about those women back through time immemorial. Unfortunately, I don't have the ability to take the Y Chromosome test (not having a Y chromosome and all), so I've "nulled" my direct paternal line. To find out about those people specifically, I'd need my brother or father to test. But what about everyone in the green section? Every generation back is just going to add more people that the DNA test doesn't find. Suddenly, my maternal line is a small and lonely fraction of what I am.......

Jim's tree
My brother's pedigree chart is a bit more encouraging. He gets the pink line for the mtDNA test. He also gets a blue line for the Y Chromosome test. But that blasted green section! He's still only going to give us a small view of the information now available. What to do? Have no fear, Autosomal DNA is here! Remember, there are 23 chromosome pairs. You inherit one chromosome from each parent for each pair. There is one pair known as the sex chromosomes, and that's where we get the Y Chromosome test. The other 22 pairs are known as the autosomal chromosomes. These are the building blocks of all that we are. And in them is the information of a million lifetimes.

An Autosomal test is sometimes referred to as an Ethnicity test. Now, I've covered the complications of race and ethnicity before, but we're going to cover it again in a different way to help those who need it. Nationality is not ethnicity. Your nationality is where you were born or where you took the oath of citizenship. I'm an American, born and raised in the United States. As you can see in the graphic on the right, so is most of my family. The black boxes are for the unknowns. My grandfather Gibson is illegitimate, so I have no idea about his father. My great grandmother Goff/Gaulf is a bit of a mystery to me. I am not certain of her parentage, although several trees on Ancestry.com are. So I am going to play it safe and say I don't know her parents' nationality either. My great grandmother Lavinski was born in Scotland, and her parents were Lithuanian. When I take the Autosomal DNA test, if I were to mistake nationality with ethnicity, I would expect my pie to be mostly American, with a small portion set out for British and Lithuanian. Now, there's already one problem: American, British and Lithuanian aren't ethnicity options!

Some people confuse heritage with ethnicity. I changed up my graph. I know my grandpa Gibson is half English based on my research of his maternal line going back about 8 generations. I know my grandma was part German, part Irish and part Native American based on research and rumor (I used grey for the rumor). I know my grandpa Householder was part German and part Native American all based on provable research (I used the U.S. flag for the provable Native American heritage). My grandma Brown was part English and part Lithuanian. Note that my great grandma Lavinski has half the British flag and half the Lithuanian flag. She identified herself as Scottish for as long as I knew her. She was born and raised there. For a long time, all I knew about her was that she was Scottish. Lithuania was in her blood, but Scotland was her heart. So my square becomes a jumble of flags, cultural identities, and general confusion. If I took the autosomal test and confused heritage with ethnicity, I would expect to find Native American, German, British, and Lithuanian. But those still aren't ethnicity categories I'm going to find!
So what is ethnicity? When it comes to an autosomal DNA test, it's something deeper than a flag. Something richer than a culture. And something untold by written history. Since ethnicity is so enormous and far reaching, let's warm up our brains with an exercise on a smaller scale. Think of your house. More precisely, the land your house is on. Is there a fence to clearly define the border between your yard and the neighbor? Who placed the fence? Is it your fence or theirs? How long has that fence been there? Imagine your surprise if you were to get the land deed from the county office and find out that fence was on the wrong line. How were you to know? The "real" border is an imaginary line based on land markers and a general agreement between who sold the property and the buyer. That seller had a larger parcel of property that encompassed your house and your neighbor 50 years ago. He bought half your property from someone else. So straight down the middle of your house is another imaginary line from that older property marker. 100 years before that, your property was part of the U.S. government's purchase from France or Spain. 1,000 years before that, it was in the hands of this Native tribe or that. 1,000 years before that, it was used by a different tribe or another. 10,0000 years before that...........
That imaginary boundary has been jumping around quite a bit and for longer than you'll be able to find a paper trail to account for. And that is exactly what the problem is with defining ethnicity for the purposes of genetic genealogy. So how do the researchers define it so they can make tests for us? Well, they make reference populations and complicated math. What is a reference population? They find a living person with proven heritage of one area, say, Lithuania. They test the person's DNA and compare it to others who claim to be 100% Lithuanian and then compare those against folks who are 100% Nigerian, Chinese, French, Russian, Australian Aborigine, etc. The markers that are shared by the Lithuanians but not the other groups are chosen to mean "Lithuanian". But the borders of Lithuania have been fluid and Lithuanians have a shared cultural history with eastern Russia, Poland and the Caucasus. So instead of calling the ethnicity "Lithuanian", the scientists call it "Eastern European" or "Caucasian" or "North East European" or whatever. The names are an arbitrary label placed by the scientist based on the number of different reference populations they sample and what imaginary borders they place on the world to mark one from the other. Genetically, humans are not far enough apart to be so delineated.
When I first heard of autosomal testing, there was something about German heritage being impossible to define. Germany is in the center of Europe. It has conquered and been conquered over and over again since the earliest Germanic tribes. The Celtic culture that many will associate with Ireland, Wales or Scotland is based on the Celtic tribe that conquered the original peoples. The Celts came from the area we now call Germany. There were several tribes from Germany that pushed into different areas surrounding them, leaving a genetic signature along the way. In the early days, the reference populations weren't large enough (or clearly defined enough) to say "this is German, this is British, this is French and this is Scandinavian". They really still aren't. But the companies you can test with do their best and are getting better. So when you take a test now, your ethnicity percentages may change later. You don't change, but the science improves. So you expect British and get a lot of Scandinavian. A year from now, those populations could be better defined and the Scandinavian will reduce. So what to do? Patience, my friend, patience.
And you'll need a lot of patience, because to best utilize the DNA test, you'll need to read and research. DNA tests are of no use without real genealogical research. And not just the "add it because everyone's tree has it". No "I'm just having fun" research. Real "here's the hundreds of hours spent squinting at pieces of paper to prove this person is my relative vs. that other person with the same name" research. Documented, cited, and oft times not found online research. Also, DNA tests are useless without knowledge about the tests themselves and the companies behind them. These posts I'm writing are just a starting point. How deep you dive into your genetic past is dependent upon how much time you research this technology. Join DNA discussion boards and groups. Watch videos. Read, read, read.
What Companies Test Ethnicity?
National Geographic and Family Tree DNA are again a part of the list. We also add 23andMe.com and Ancestry.com. Again, there are several others, but these are the known, trusted, most used ones. I will be reviewing the companies and the third-party tools that make testing useful in upcoming posts. There is so much to read today (and so much when I write about the companies themselves), that I don't want to go too deep into the company part right now.
1. Ethnicity is region specific, not country or town specific. It will not tell you what tribe of Native American or African you come from. Even if the reference population is from Italy, your relatives may not have been Italian. The regions you know are little imaginary lines, not real facts.
2. Ethnicity is not parent specific. You will not be able to tell what part of your ethnicity is your father and what part is your mother based on your test. Research and comparison with other tests will help, but again, this test will not tell you who your real father is. And thanks to pedigree collapse, your parents will share an ancestor or two. So some matches will be related to both sides of your family. Researching the differences between the cousins you know are exclusive to one side and cousins you aren't so sure of will help you complete the picture.
3. Reference populations have grown, but they are still small and based on what people "know" about themselves. As people take this test, their results will help to refine the ethnicity definitions. It's not an overnight thing, however. (Ancestry.com has an alarmingly high Scandinavian error right now that people seem to expect to be "fixed" within weeks. The test is only a year old and it can take a year or more before they can clearly define the margin of error and filter out the incorrect Scandinavian results. I'll discuss this more in the upcoming AncestryDNA post). National Geographic has been doing this for quite a while as a research study. They travel to test isolated portions of the world to better refine the results. Their goal is to test as many people as possible to fully map the migration of man...........talk about a Herculean task!
4. A well-researched tree is necessary. Documented lines for every grandparent, great grandparent, 2nd great grandparent, etc. for 10 generations is best. Very few people have every single person for 10 generations proven and documented, so you will have holes. Your matches may fit in those holes, so don't give up just because you don't see a matching relative easily. They may hold the clues to your greatest mysteries, but you'll have to work together to solve them. And researching your collateral lines (the siblings of your grandparents, great grandparents, etc. down to the last known generation) will help match your distant cousins. Remember, a 1st cousin is related to you by 1 of your 2 parents; 2nd cousins by 1 of your 4 grandparents; 3rd cousins by 1 of your 8 great grandparents; 4th cousins by 1 of your 16 great great grandparents...... do you know all the great grandchildren of all 16 great great grandparents? Do you know all 16 great great grandparents?
5. DNA is more than 10 generations. You could show an ethnicity that doesn't make sense based on your detailed research. It could be an error, but it's just as likely that it's from an ancestor that lived before written history. You could be seeing the last remnants of your 45th grandfather Oook. How do you know? That's right, detailed and thorough research.
6. DNA can disappear. Statistically, you'll share 50% of your DNA with each of your parents. 25% will be shared with your grandparents, and 12.5% with each great grandparent. Thanks to insertion, translocation, deletion and other genetic shuffling, what you share in reality can be a little different than the statistics. Naturally, you'll share 50% with your dad, but during meiosis (the creation of sperm) he may only give you his mother's chromosomes. You could have 0% of your grandfather's ethnicity markers! And that's only your grandfather; what if you're hoping this test will carry the ethnicity of your great great grandparents? You could easily have missed out on their 6.25% contribution! Unfortunately, this means that you may not show that Native American you were desperate to prove. It may mean you missed the markers. A well-researched tree will help. You can compare your results to that of the cousins you'll find and maybe their well-researched tree will have the documentation proving your heritage (or just as likely disproving it).
7. DNA doesn't lie. The companies that test you don't choose your matches based on your tree or your surname. They may match you differently based on what they consider a margin of error or a minimum percent to be considered a true match, but the people they say are your cousins are your cousin. Pedigree collapse could effect the generations calculator, so don't trust that the prediction of 4th cousin is accurate. They could be a little closer or farther depending on how often the family intermarried. Proper genealogy research will help. Since DNA doesn't lie, it could tell you something surprising about yourself. Even though this isn't a test specific to your father's line, you could prove a non-paternity event or adoption simply by what cousins you match. If learning your family isn't blood related will change how you feel about them, DO NOT TAKE THIS TEST. If finding a large percentage of an ethnicity other than you expect will change your personal identity, DO NOT TAKE THIS TEST.
8. There's still a lot of confusion about how genetic genealogy can help/hurt us. You'll need to read, watch, listen............ research. It can be overwhelming. I seriously thought my brain would explode. Take it slow. Don't take everything literally until you've played with it for a while. Know that everyone knows just enough to hurt themselves. Few people are expert enough to give you clear answers. Most groups you can join to discuss DNA for genealogy purposes are started and maintained by enthusiasts just like you, not scientists who run the labs.
Now, I think I need to shut off my brain and take a nap. Get your own pillow.

23 May 2013

All Mama's Children

So last post talked about the Y Chromosome test that can tell you more about your father's direct paternal line. What about mom? Is there something that mom gives her child that dad doesn't? One would assume that if the Y Chromosome worked for dad's line, that the X Chromosome would be mom's, right? I mean, a man has a Y and an X, and the X has to come from his mother.... so .... ya know... solution. Not really. Okay, so there are 23 chromosome pairs. And one pair is known as the sex chromosomes. That's an X and a Y for a boy and two X's for a girl. For those of you noodling this out as we go along, you may have spotted the problem. To get a girl, dad has to give an X too. And because of translocation, during meiosis (the creation of an egg) the girl's X chromosomes can swap genes. So while your mother only passes down one X, she may not get one that is 100% one parent or the other. So how do we find out more about our matrilineal line like we do our paternal?

There is one thing that mothers pass down that fathers do not. Mitochondria. What is it? Inside every cell are these energy producers known as mitochondria. They have their own DNA, which suggests that this organelle may have been a bacteria that evolved to live in our cells. The great thing about the mitochondria having it's own DNA is that it has specific mutations. And because a mother passes down her mitochondria (the father's sperm cells have them, but they are dissolved during fertilization of the egg), this is our best bet for knowing about our mother's direct maternal line. Now, there are exceptions to this rule. Very rarely a man will pass his mitochondria down rather than the woman. Because it does happen, there is some pushback on how accurate we can consider this test. However it's so rare that most people don't worry about it.

Just like "Y Chromosome Adam", there is a "Mitochondrial Eve". Eve lived approximately 200,000 years ago and is the MRCA (Most Common Recent Ancestor) of every living human (on their mother's side). As Eve had daughters, the mitochondria changed and mutated. The mutations are now used to know what branch of the family tree is yours and how you connect to humanity as a whole. MtDNA uses SNPs (Single Nucleotide Polymorphisms), so the results are considered more "ancient". The fact that mtDNA isn't as accurate for recent generations is used by detractors more than the whole "men can sometimes pass down their mtDNA instead of women" thing. But this one's a little harder to refute. I would like to point out that currently it's considered the most accurate matrilineal test we have AND that no test is really useful without real genealogical research to back it up. So don't neglect your documentation just because you take a DNA test!
A mother passes down her mtDNA to all children.
Because mothers pass down this DNA to all their children, sons and daughters can both take the mitochondrial DNA test (mtDNA). You can test to find out about your mother and her matrilineal line, but what if you want to know about her father's mother? Just like the Y Chromosome test, choosing a subject for testing is easiest when using a pedigree chart to help visualise. Above is the same chart we used for the YDNA test. This time, we're hoping to solve the identity of Mystery Mother. Again, the S/P indicates "sans progeny" and those children have died without producing a child to test. You could choose any of her sons or any of her daughters. You can choose any of the daughters' sons or daughters. But notice all of the sons' children are crossed out. The children of the sons will get the mtDNA of the spouse and therefore will not help us find Mystery Mother. So while a male can take this test, testing your brother to find out about your father's mother won't help you. I personally would love it if my father would test his mtDNA so we could know more about his mother's maternal line (another of my little brick walls). My brother is taking the National Geographic test and will have his mtDNA tested for our mother's maternal line, which will help us learn more about our great grandmother's mother (my current maternal brick wall).

So what companies will you be able to get the test from? Just like the Y Chromosome test, the big two are Family Tree DNA (Ftdna.com) and National Geographic. Family Tree DNA is having a sale right now for either introductory Y Chromosome or mtDNA testing for only $49. These are introductory, so they aren't really "useful" to your genealogical research. However, if you have an elderly relative you are worried will pass away before you can afford to get the more detailed tests, this is the perfect way to "save" their DNA for later. FTDNA stores their sample for retesting for years. And you don't have to buy both tests for your male relatives. You will be able to upgrade the Y Chromosome test to a combo test later without having to purchase the separate mtDNA test now. National Geographic is $200 whether you are male or female. Men will get the added bonus of Y Chromosome testing, but both men and women get mtDNA and autosomal testing. There are of course other sites and companies, but these are the most recognised.

An mtDNA test is just like the Y-Chromosome inasmuch as it only traces one direct line (in this case, your mother's mother's mother etc.)

The Caveats
1. This test is considered more accurate for your deep maternal ancestry rather than the recent stuff. It can help you find your mother, but only in conjunction with real research. Even the "Full Maternal DNA" test provided by Family Tree DNA can only get within 9 generations (while a Y Chromosome test at 111 markers can get as close as 4).

2. Because you may need to test another person, be ready to answer questions by doing a lot of research. Be able to tell that other person what company you are using. What the results may show. How they will participate (most tests require the subject not eat or drink before giving a sample). What the realistic turnaround time is. How you will use their results: Do you want to make them public so you can connect to living relatives or will you keep them private and are only satisfying your own curiosity. The more you know before you ask for their help, the more likely they will help.

3. The number of markers matters. An introductory mtDNA test from Family Tree DNA will only get you within the last 28 generations.

4. And more markers means more money. Even at the "high" prices, however, I'd like to point out how affordable DNA research has become in less than 20 years. We couldn't even dream of something like this a mere two decades ago. Be thankful that it costs as little as it does.

5. DNA test are non-refundable. Notice I used red, underlined and italicised bold-faced large font "non-refundable". If you don't like the results, tough tits. The labs aren't out to get you, that's your DNA.

So there you have it. An mtDNA test will get you your direct maternal line just like a Y Chromosome test will get you your direct paternal line. There's still the possibility of a surprise "hiccup" in your ancestry. We're all pretty sure of who our mother is. What if you were adopted and don't know it? What if you are one of those "switched at birth" babies? What if your "mother" is your aunt or grandmother who took you as their own because your mother was a teenager unable to care for you? Just like a non-paternity event (NPE), you have to be ready. And just like before, I can't tell you how to do that. If "family" means "biologically connected", then DO NOT TAKE A DNA TEST. Something this deeply personal requires self-possession, demands the ability to take yourself out of the situation, and insists on a rational mind over an emotional heart. If you aren't strong enough, the current of unbridled truth will take you under and drown you.
Only the brave need jump into this gene pool.

22 May 2013

Papa Was a Rolling Stone

So you want to know more about your paternal ancestry. Maybe you don't know your dad, or paternal grandfather. Maybe you know your paternal line for the last 10 generations, but want to connect to living cousins or get an idea about your genealogy from beyond written history. And maybe you don't know what the difference is in genetic tests and expect this to do something it won't. I'm here to help.

My Story
So I've talked about it before: my father's father (my paternal grandfather) was illegitimate. We knew it, but didn't talk about it. We had a surname possibility, but no leads and the man in question definitely denied paternity. Before genetic genealogy, this branch was essentially a dead end. Now that there are relatively affordable direct-to-consumer DNA tests, I can find out more about this line.... if I can get a male in the family to agree to do some testing. I can't test myself, because I'm female.

This is my family tree (my brother the home person). As you can see, I don't have information on my paternal grandfather's father. A Y-Chromosome test could potentially lead to some answers.

Why Men?
If you don't know Bryan Sykes, you need to get on the ball! He's pretty much "The Man" in genetic genealogy. He's also written several books that can go deeper than any one blogger could even imagine on the subject of genetics. There are many in the field, but he's going to be a name you need to know (like Anjou when talking royalty). At the very beginnings of genetic genealogy, Sykes researched men with his surname and looked at four markers on the Y Chromosome to see if they matched in any significant way. They did. Another study used the Y Chromosome information for men with clear Jewish lineages from the Cohen surname. Again, it was believed that these men would be more closely related to each other than to the average man off the street. They were and this lead to more refining of the methods of mapping and grouping the mutations of the Y Chromosome. The methodology was expanded and improved until it was finally offered to regular people by a company named GeneTree in 1997. In the early days, the market (and technology) was all about paternity testing. It's grown from those four simple markers to up to 111.

So why is this a male only test? Why did research focus on men only? First, the basics: the Y Chromosome is male-only. A father passes it to his son. The son passes it down to his son. The "markers" we talk about are STRs (Short Tandem Repeats). The longer the segment, the closer the match. Because the Y Chromosome is specifically from father to son, it was a perfect way to test theories on genetic inheritance. The 22 autosomal chromosomes can swap information between pairs and pass information from both parents down to the child, leading to confusing results. The first research used good old fashioned family history and new fangled DNA testing to prove men with the same surname were related. This was then expanded to prove how small groups of men were related farther in time to other groups of men (connecting people together to a time before surnames existed).

All men are considered to be related to "Y Chromosome Adam". This is the MRCA (Most Recent Common Ancestor) for all men in the entire world. Depending on the study and the theory in action, a DNA company's report will have "Adam" as living anywhere from 200,000 to 500,000 years ago. As "Adam" had sons, those men separated and populated the world. Occasionally a mutation would occur. These became haplogroups. These groups further broke down into smaller communities with their own mutations. When a man is tested, he finds out his haplotype. Basically, he learns what subset of what community of what group of what branch of "Adam" he belongs to.

Let's put this another way any genealogist will understand. Consider "Adam" to be Adam Smith. Mr. Smith has two sons, John Smith and James Smith. John travels to West Africa and starts a family there. James prefers Asia. John has two sons, Caden and Casey. Caden  heads to Europe; Casey sticks around in Africa. James also has two sons, Michael and Mordecai. Michael heads so far east, he ends up in North America. Mordecai heads from Asia to Australia. So you're doing your family research into the Smith line and you find out that your grandfather Moses is the son of Mordecai. You will be more closely related to the great grandsons of Michael than you will be the great grandsons of Caden. And because of this closer connection, you know more about the migratory pattern of your family. You can focus your efforts on other Smiths who have history in Australia even if they don't know how they connect to the tree of Adam. And any adoptee who uses DNA testing and finds out they are the descendant of Mordecai can compare their results to yours (if you choose to make them public). The closer you are related to the adoptee, the closer they get to knowing where their paternal line started.

 Choosing What Family to Test

S/P means the child died without producing a biological child. Assuming the rest of the tree represents living relatives, to find out about the common male (top), I would need to test a connected male relative. A daughter (or a child of a daughter) will do me no good.
So who should you test? Because this is a male-only test, women are excluded. If you are a woman, you'll need a male relative. Also, because this is father to son, having your brother tested to find your mother's father won't help. The pedigree chart can be helpful to visualise who is "eligible" for testing. Take the photo above as an example. The man at the top is our Mystery Father. He has 5 sons who live long enough to have children. (Note the S/P for "sans progeny". Those children didn't live long enough to produce children.) The daughters and their children are of no use as they won't have the Y Chromosome needed, so I crossed them out. The sons have their own children and I cross out the granddaughters. Grandsons, great grandsons, great great grandsons...... the better your research into the tree, the more possible tests. You only need one.... unless you worry about nonpaternity events (which I will discuss in "Caveats"). If you want mom's dad, you'll need mom's brother or uncle to test.

What Company to Choose
Family Tree DNA (ftdna.com) has a sale for their 12 marker test right now. That's only 12 markers, so it will give you cousin matches from 29 generations ago. Genealogically useless, but it's a start. And they store your tests so you can upgrade later or order a different test, so the intro price is a great way to store the DNA of older relatives who may not be around when you're actually ready to test. There are three other levels (36, 64, 111) that are progressively more expensive. The more markers tested, the closer your matches will be. The 111 marker test can match you within 4 generations.

National Geographic also has a Y Chromosome test. The bonus of their test is that for $200, they test your father's line, your mother's line and your autosomal chromosomes. The drawback is the wait. I'm on 2 months of waiting to hear if they've even received my sample. And from what friends have told me, it'll be a long time before I get my results. If you're impatient to know the truth, this isn't the test for you. Still, the value is worth the wait. While Nat. Geo. won't directly connect you to relatives (they are doing it as a scientific "how we all relate" kind of study), you can take your results to several other sites and connect to people who've taken tests on many platforms.

There are more, but these are the big two and should be the first you consider. With ANY large and important purchase like this, read as much as you can. Read their blogs, watch their videos. Find out how they test, how long results typically take, and what support they offer. Stick to sites that people know and trust. Watch out for sites with similar sounding names to popular companies. Make sure you are on the site you want to be on! Also note that some companies are strictly paternity tests. They will require two people to test to prove one is the father of the other (or that two men share a father). They aren't for genealogy research.

The Caveats
1. This is a male only test. If you are a woman, you can't take it. I'm sorry, I wish you could, but you can't. If you are an only child, this test will not be able to tell you about your father.

2. Because you may need to test another person, be ready to answer questions by doing a lot of research. Be able to tell that other person what company you are using. What the results may show. How they will participate (most tests require the subject not eat or drink before giving a sample). What the realistic turnaround time is. How you will use their results: Do you want to make them public so you can connect to living relatives or will you keep them private and are only satisfying your own curiosity. The more you know before you ask for their help, the more likely they will help.

3. The number of markers matters. Like I said, you can buy the introductory $49 test with 12 markers just to get your foot in the door, but you won't find much to help your research.

4. And more markers means more money. Even at the "high" prices, however, I'd like to point out how affordable DNA research has become in less than 20 years. We couldn't even dream of something like this a mere two decades ago. Be thankful that it costs as little as it does.

5. DNA test are non-refundable. Notice I used red, underlined and italicised bold-faced large font "non-refundable". If you don't like the results, tough tits. The labs aren't out to get you, that's your DNA.

Which brings me to my last caveat. The real big one.
6. Be as prepared as you can for a Non-Paternity Event (NPE). This means that someone's father isn't who you think it is. You could take the test and find out your father isn't your father. Or that your grandfather isn't your father's father. Or that a thousand years ago...... well, someone wasn't who they thought they were. And you can say all day you are ready and not be ready for it. I wish I could tell you how to prepare for such an event, but I can't. I can only tell you that it can happen and it does happen. If you can't see the man you called "father" as your father if your DNA says he isn't, then don't take this test! If you test someone else and find out they aren't related to the man they thought was their father........... God help you.

In the End
Now, I know about at least one NPE in my father's line. I've taken an autosomal test and my brother has taken the National Geographic "full service" test. When all the results are in, I'll be able to compare autosomal segments and confirm we are full siblings (really, we look like twins, and we both look like our father, so I'm not really worried). IF we are, I can then use his Y Chromosome results to connect to people who are related to our grandfather's real father. My father has no interest in knowing anything about this. In fact, he worries for everyone taking these tests, not myself specifically. He worries about those folks finding the NPE and having an identity crisis. And I tell him, "it happens". Some people can't handle it. But it's like taking a trip to a foreign country or learning to ski. You can either handle the challenge or you can't. And you don't really know until you try. Still, he doesn't want me to try. And I respect his opinions, but I'm still curious. He may not want to know about his "real" grandfather, but to be honest, neither do I. I am curious about the possibility of finding living relatives, but I asked my brother to take this particular test just to know without connecting to others. I had my brother tested via National Geographic and Family Tree DNA. Like I said, I'm still waiting on National Geographic. FTDNA, however, is a little quicker. I only did the 12 marker test, so again, not going to tell me about my great grandfather. BUT I did notice that the majority of matches had the same surname as the rumored father of my grandfather. Not conclusive proof, but encouraging. I could pay for the upgrade and know more, but I am willing to wait for the full results from National Geographic.

And what about telling dad? Well, I've decided not to. I've approached him about a test for his mother's maternal line (to be covered in the mtDNA test post to come), but even that is getting pushback. So he's not interested, fine. And if I find out my brother is not my brother? I've already made the decision to keep that to myself. My brother has no real interest, but supports my genealogy obsession. His reward will be to only hear the good stuff. I want to test some cousins on the Ancestry.com autosomal test. That isn't male specific and won't tell me about their paternal lines definitively, but could indicate they aren't related to me and/or my brother when I compare the results. Will I tell them of an NPE? NO. I may think my father is over worrying the situation, but I agree with him on one thing: it's not my place to break that news. I've asked my mother to choose some cousins on her side to test. I told her about NPEs. At first she said, "oh, well I have a half-brother, but we'll test my sisters' kids instead." I know what she was assuming. That being her sisters, we could all be sure that their mother was their mother and we weren't really worried about their father's side (at this point). I had to remind my mother that if her sisters have a different father, my cousins won't come up as a match to me. She agreed that if that happens, no one knows that but me. Even she doesn't want to know that one. But she still wants two cousins tested. If all goes well, she wants herself and two sisters (one half, one full) to be tested. And to know more about her father, we're trying to contact her father's very elderly brother. Again, with the understanding that I could find out that they aren't related and that no one but me will know that. You'll have to make that decision for your family too. Talk to your close relatives and be open to their concerns. You'll know best if they can handle the whole truth.

But first you need to know if you can handle it.

15 May 2013

DNA Basics

After much back and forth on how to continue my DNA series, I have come to one conclusion: if this series doesn't kill me, I am immortal. There is so much info, so many companies, so many misconceptions...... if I so chose, I could write about it for the rest of my natural life. My brain would explode from overwork, but as long as you understand what we're doing, right? As previously mentioned, I am in the waiting process on a few DNA tests and I will share those results when available. I also plan to discuss the different companies available in it's own post (along with how to avoid disreputable websites). I am writing three posts, one for each of the common DNA tests used by genealogists as well. On top of that, I also want to discuss privacy laws concerning DNA results and may have to make a separate post so as to not overwhelm you. And yet.... and yet today I find myself writing about what DNA is. I have been reading forums, blogs, Facebook pages, FAQs for a dozen companies, etc. and I have learned one thing: there are people who don't know enough of the basics of genetics to have any use for these tests. Today, I plan to give you something of a glossary or reference post that you can use to help you navigate words and concepts you may have not seen since high school (if at all).

Starting with the Base Pairs

Nucleotide pair
A Nucleotide pair (or Base Pair) is the starting point of DNA. There are four nucleotide molecules: Adenine, Thymine, Cytosine, and Guanine. Adenine pairs with Thymine, Cytosine with Guanine. This is important, because the order that the nucleotides are put in is the blueprint of everything. If a nucleotide is paired with the wrong partner during copying, the error becomes known as a Single Nucleotide Polymorphism (SNP). It's these SNP's that are reviewed during a DNA test to determine your ancestors' possible origins and connect you with potential cousins. A gene is what we call a series of nucleotides. An allele is what we call versions of a gene. For example, there is a gene for the color of your eyes (a few actually, but let's keep this simple). While brown eyes are dominant, there is a mutation that allows for light colors like grey, blue and green. The color of your eyes indicates which allele you have (what version of the gene). Another way to put it: if computer operating systems were a gene, Windows 8, Vista, and Windows ME would be alleles. They all do the same thing. They all started off in the same place. But every new generation changed the basic code a little. (And just like a gene, if it doesn't make life easier, the organism dies.)

Deoxyribonucleic Acid (DNA)
DNA is a series of base pairs held together by a sugar bond. When DNA is copied (for use in making proteins, or in making new DNA for new cells), the base pairs separate. New nucleotides attach to the "unzipped" DNA to copy the information. The most common shape that people recognise is the "Double Helix". When human DNA is compressed, it twists into the helix shape. However, DNA can come in many shapes. In the mitochondria, DNA is shaped into a circle.

Technically, the picture to the right is a Chromatid. However, many sources will use "chromosome" interchangeably with a single chromatid and a pair of chromatids, so it's important you know what we're really talking about. DNA is compressed into the chromosome shape when it's preparing to make a new cell (mitosis) or a gamete (meiosis). A gamete is the science-y term for a sperm or an egg. When a sperm or an egg is made, they get 23 chromosomes (chromatids). A human requires 46 total chromosomes in 23 pairs. You receive one set from your dad, and it's twin set from your mom. The first 22 chromosome pairs are what we call "autosomal". When we discuss ethnicity tests, we're going to be talking about the information found on these 22 pairs. The last pair is your sex chromosomes. Females only have X chromosomes. Men have one X and one Y. So, if you are a male, you received your father's Y chromosome. If you are a female, his X.

So if we want to know more about your father's specific line, a Y chromosome test would be helpful. But only if you are a male (since women don't have a Y chromosome to test). This test usually looks for Short Tandem Repeats (STR). DNA can carry a lot of "junk" and repeats. When a base pair is repeated in a connected sequence, it's known as an STR. Y chromosome testing that looks at the length and frequency of particular STRs helps to determine a man's haplotype. A haplotype is considered the more recent ancestry markers. There's also a haplogroup. Haplogroups are usually determined by looking at SNPs. A haplotype is usually grouped with similar haplotypes into a haplogroup. A haplogroup, therefore, is considered more ancient DNA. Now, because X chromosomes are passed down from both parents, it's not considered helpful for finding out about a mother's ancestry specifically. Mitochondria, however, is passed down only by women. So an mtDNA test will test the DNA inside of mitochondria (that circular DNA) to determine a person's maternal ancestry.

How DNA Can Change
During the copy process, portions of DNA can accidentally be skipped. This is deletion. As long as what is deleted isn't necessary for proper functions of the organism, it's not lethal.

Insertion is when new sequences of DNA is added to the strand. This is how STRs are born. For whatever reason, nucleotides are repeatedly copied in the same order, leading to an insertion of genes that are superfluous. Again, unless it's going to affect the proper functions of the organism, it's not lethal. Insertions are usually considered "junk" DNA because it's also not going to improve the functions of the organism.

This is the really important one and I left it for last so you could let it sink in tonight after reading this post. When a gamete is being made, the chromosome pairs are copied. So there are 92 chromosomes. These 92 chromosomes are separated into four gametes. The crazy thing is, that the "autosomal" chromosomes have this stupid habit of swapping genes. So it becomes a genetic dice roll as to what chromosome will be in what gamete and which gamete will make one half of you. You can end up with 0% of any particular ancestor. And the farther back that ancestor is, the more likely you'll not receive any of their ethnicity markers. Also, because of this swapping, autosomal tests don't differentiate between your mother's side of your DNA and your father's. It's just not possible.

So you take an autosomal test hoping to prove you're Native American and it doesn't show up, or your test reveals more West African than your tree would suggest. Does that mean your family is wrong about your tribal heritage? Not really. It just doesn't help prove it. And really, if you have Native American DNA, it doesn't necessarily prove your great grandmother was actually a Cherokee. It can be an error (I'll talk about accuracy in testing ethnicities later) or ancient DNA that you were lucky enough to receive. While DNA can be fun, it's useless to a genealogist without documentation.

But that is a tale for another day,