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d Team Liddell et al    c

“No Longer Separated by Oceans and Centuries”

 Interpreting Your Test Results

 By James W. Liddell (October 2004)

            Gosh, but aren’t all those numbers in your test results from FamilyTreeDNA intimidating!

And aren’t you grateful for the interpretations the company’s experts provide and the comparisons they made with their all-test-results database to see if you can be matched to anyone else.

            That’s reassuring, isn’t it. And, here, at our Team’s study website we’ll going to provide a little more information and tools for you to use because we are not bound exclusively to the FTDNA world and can, instead, use the entire resources of the Web.

            You see, there are three major companies in this rapidly emerging new genealogy world of genetics testing and, of course, who ever chooses one doesn’t test-compare at the others. There are ways around this, and FTDNA is one who provides a way to try matches with the others—but more on that later, after you have a better understanding what this genetics stuff is all about. The following will not make you an expert but it will cut through a lot of the fog. We ask you here and now to later go study some of the tutorials on the Web. FamilyTreeDNA has several and we list one or two more in the DNA/mtDNA folder at our Group Liddesdale site (Only Team-members are allowed access to our Group sites, though.)

 

The Genealogy-Testing Industry

            First, let’s take a moment to briefly examine the Y-DNA and mtDNA genealogy-genetics testing industry.

            The tests we are taking as a new tool to reunite our families both within a surname and, hopefully, across related surnames, are very limited tests even though they are perfectly designed for our family-genealogist purposes. Our type of tests cannot be taken into a court of law and used to prove paternity, for example, but they can be used to prove or disprove kinship over generations for males and even eras for females.

            And that’s about all they can do. But, happily, it is enough to allow us to spring free of old records which are damaged, fragmented and even destroyed by time, fires, floods, wars and rebellions.

            Please understand that “prove” and “disprove” are relative terms, for with these tests we are actually dealing with statistical probabilities of kinship—but the tests are so very accurate and the science behind them so good that we can safely use the words prove and disprove in our everyday conversations, and be correct for our purposes.

            There are three main commercial companies doing genealogy-oriented testing today. These are FamilyTreeDNA (the one we selected for our tests) which is based in Houston Texas, Oxford Ancestors, based in Oxfordshire, England, and Relative Genetics/Genetree (which are properties of the Mormon Church) and based in Utah. All three are professional in every way, although Oxford Ancestors is pretty limited in its testing ability compared to the other two simply because it tests only for what is termed the Minimal Haplotype.

Oh, boy! What is the Minimal.Haplotype? Think of it as the first twelve markers of the 37 in the male Y chromosome. This is what produces the readings to identify your most ancient ancestors—the Vikings, “regionalities” from the Roman Army (for the tests can’t reveal specific ancient “nationalities”) and so forth. There is a very good discussion of Ancient Ancestry at FamilyTreeDNA and at other Web sites. What the Oxfordshire folks assembled as their testing markers includes the European Extended Haplotype, YCAII. This YCAII “marker” is found only in the DNA material of Europeans just as other haplotypes are used to identify Asians and Africans, and even some sub-groups of these.

This concept of haplotype (Think “handbasket of genetic stuff” for haplotype, and “haywagon of genetic stuff” for haplogroup)  is nothing particularly strange. Haplotype is the individual, and haplogroup is—yeah, you guessed it—the group the individual belongs to. Well, that’s not exactly right but it’s close enough for what we are trying to explain. We don’t want to get lost in the thicket while just going fishing.

            There are some testing differences between those three industrial leaders mentioned above for they have chosen different markers to test for. It’s not important for us to understand why there are these differences—just as in politics, horseracing and choosing a marriage partner, there are differences of opinion. But all three companies are working with the genetic material for males (Y-chromosome) and for females (X-chromosome). So, let’s start with the males and their “Y” because this is the far-better use for genetic testing. If you are female, this initial male-focus will give you a better idea of how to use your male relatives and potential relatives to help you fill in and extend your genealogy charts, and then to understand how the X-chromosome material can lay an even-stronger foundation for that!

This also will help you sort through all these strange new letters and numbers and be able to use them yourself in test-result interpretations when you leave the FamilyTreeDNA site and go bravely out onto the web in search of male and female test-result matches. (Click on the Relevant Websites Button in our Menu Options list for a partial list of these along with some other exciting stuff.)
            We’ll get to the ladies in a bit because their genetic situation is a lot more complicated, test-wise, and more difficult to use, genealogy-chart-wise, as well.

 

The Three Leading Companies and Y-Markers They Test For

 

Relative Genetics                                Oxford Ancestors                             FamilyTreeDNA

and Genetree (Mormons)                (Oxfordshire England)                       (Houston Texas)

 

DYS19 (DYS394)                                     DYS19                                                     DYS19 

DYS388                                                   DYS388                                                   DYS388

DYS389 I/II                                           DYS389 I                                                 DYS389 I/II

                                                                DYS389 II

DYS390                                                   DYS390                                                   DYS390

DYS391                                                   DYS391                                                   DYS391

DYS392                                                   DYS392                                                   DYS392

DYS393                                                   DYS393                                                   DYS393

DYS395 a/b                                                                                                            DYS385 a/b

YCAII a/b

                                                                DYS425

DYS426                                                   DYS426                                                   DYS426

DYS437                                                                                                                   DYS437

DYS438                                                                                                                  

DYS439                                                                                                                   DYS439

                                                                                                                                DYS447

                                                                                                                                DYS448

                                                                                                                                DYS449

                                                                                                                                DYS454

                                                                                                                                DYS455

                                                                                                                                DYS458

                                                                                                                                DYS459 a/b

DYS460

DYS461

                                                                                                                                DYS464 a/b/c/d

GGAAT1307

Y-GATA-A4 (DYS439)

A10

C4

H4

 

What in the world does all that mean???????

Well, DYS stands for DNA, Y-chromosome and Segment. Y-GGAAT, for example, is one of the older, pre-common-nomenclature-agreement-among-geneticists, names for one of the markers on the Y-chromosome. Very much ancient history, now because the earliest eye-blink of this genealogy-genetics stuff was in 1997—some seven years ago. Gosh, most of us were alive back then!

And GGAAT1307 is a pretty stupid-looking name, anyhow. So, about three years ago, everybody got together and came up with the DYS name system, and that’s why there’s a “DYS439” in parenthesis after Y-GGAAT.

“Markers?” What the dickens is a marker? We were talking about Y-chromosome! And how, you’ve gone and changed the subject.

Well, actually, no—we haven’t.

Think of the male’s Y-chromosome as a winding staircase leading up from the lobby of a very tall apartment complex with each staircase going to one and only one apartment, and there are 37 landings built randomly from time to time into each staircase where each apartment dweller can stop and take a breather. These 37 landings are not spaced out regularly but occur randomly, just whenever the carpenter got tired and wanted to take a rest, himself. What is odd about each of these staircases is that the carpenter always got tired at the same moment and so, the landings are always in the same exact place on each of the stairs.

And let’s say that the residents who began using the staircase decided to name each one of the landings so when they called each other on their cellphones each would know exactly where the other resident was. Very early, when the apartment complex was still very new, the residents got into an argument what name to use for each landing and even, today, some of them are still arguing. But most of the names for the landings are now established and some have even been renamed.

You can see them in the chart above. For example—again—the Mormons’ Y-GATA-A4 is now also known as DYS439.

But “different strokes for different folks” applies to scientists as well as swimmers and the folks who set up the tests in each of the three companies decided that this Y-GATA-A4 (DYS439) landing was a better one to measure while the scientists at FamilyTreeDNA didn’t agree at all and went in a different direction when choosing their markers. “Big deal!” as far as we are concerned. All we want are useful test results and we get these regardless of the company being used. It’s just as if the folks in the labs are holding their mouths differently while they run our cheek-scrapings through their test-tubes.

Let’s move on.

What is odd about the apartment complex we’ve described above is that the folks who installed the air-conditioning system screwed up their ducting leading into the stairwells. Some of the landings heat up or cool off faster than others and some have a higher maximum temperature and lower maximum temperature than others, while still other landings receive a stronger draft from their A/C grills than other landings do. It’s admittedly a pretty messy way to build spiral staircases, but the building inspector approved their work before everyone moved in, and the residents now just have to live with the results.

Well, let’s get something straight right now before we leave you with a false impression. We want you to understand that in genetics, a temperature change and the force of the draft really isn’t what is happening at the various landings (markers) on the Y-chromosome because this is just an analogy and analogies always are like fairy-tales. They take a bit of imagination and tongue-planted-firmly-in cheek to work properly.

But what we want you to understand is that there is a potential for variation at each landing on the spiral staircase and that variation always falls within an expected range, although the ranges can be different for each landing.

Soooooooooo, for, say, DYS390—which all three companies use as you probably noticed during your breathlessly fascinated scan of the table—the change potential falls between 14 and 20, (Think degrees of temperature if it makes it easier for you but just keep in mind that we are really taking about a shift in the test results based on something we really don’t want to get into here.) And let’s say that the actual number for DYS390 for Jim Liddell is 17 and this means that if Jim has some neighbors who have identical numbers for each of their landings and this includes 17 for DYS390, then Jim and all those folks are very close kin and have a fairly recent common ancestor.

AHA! That’s just about the “all of it”—dear reader. We just tricked you into understanding the bulk of genetic interpretation.

Honest-to-gosh, you now understand nearly everything you need to know about interpretating Y-DNA test results. (Really!)

Say “thank you!”

Now that we’re nearly through, let’s get the “rest of it” out of the way.

Let’s go back to our analogy and admit that from time to time, the temperature on any of any individual’s 37 landings, or the force of the draft, can change. This happens very rarely—the chance for it to happen becomes one-to-one (or 50-50) each 330 to 360 years! Please understand that it can happen at ANY time, even today, but averaged out over time by some bookie odd-maker in a backroom over at the corner grocery near our complex, a change can be expected to occur once every 330-360 years.

The number will shift from, say, Jim’s 17 to 18 or even drop to 16. Let’s say it changed from 17 to 16, OK?

Wait a minute! Just when did the scientists figure this number-change and 330-360 years business out, “Pray-tell?”—as my Aunt Nini used to say along with her “Ye Gods and Little Fishes!” cry of outrage which always upset my mother to no end to hear because she felt Aunt Nini was getting too close to actually cussin’ in front of me.

Ah, oops—I digressed. Sorry, I digress a lot. It’s a habit of mine and…

In 2000! That when the scientists figured out this rate of change at the Max Planck Institute in Berlin. Say, isn’t that where Al Einstein used to hang out? Ah, yeah! It’s a brain-trust if ever there was one.

But the rate of the random changes—let’s call them “mutations”—were not known prior to four years ago as of this writing (2004). –Do you see now how new all this stuff is, dear reader?

“MUTATION!” --Green-skinned babies with fat little tails!!!! Ye Gods and Little Fishes!!!!!

Ah, no, Aunt Nini—this is not that kind of mutation. The mutations we are discussing here are invisible except under an electron microscope, and, besides, we’re only talking about a tiny one-number-value change at only one of Jim or any male’s for that matter 37 landings (markers).

Now, here is where we are going to have to leave our analogy. It is getting a little stretched now, anyhow!

When Jim and his one-number-value change at DYS390—that 17 to 16 shift—has a son, that son will also have that same 16 for DYS390 and the son will pass it on to his sons for generations to come (The Bible says a generation has 30 years, FamilyTreeDNA says it’s 25 years—and we say, close enough for government work, so take your choice.)

Soooooooo, a couple of centuries from now—say seven generations into the future, some family genealogist will get several Liddell males to take a Y-DNA test and may find that several have a 17 value for DYS390 and some will have a 16 value—and all other markers have the same value.

Bingo, this means that all of them have a common ancestor further back than seven generations ago but a few of them have a more recent common ancestor in or within the past seven generations. (That line started with Jim although his descendants will probably never know it was exactly him that produced the DYS390, 16 mutation!)

Now, let’s say that we find some Liddles who also have a 16 reading for DYS390 and otherwise match with the DYS390 17-reading Liddells on all other markers. Well, come to the next family-reunion, folks. You just changed the spelling of your surname a few generations back. Go look at the records again, please, and rework your genealogy charts.

Want to get it more complex? OK, we will. Let’s say we come across some Lydells with well-documented lines reaching back 700 years and they test and they, too, match on all markers with the Liddells. Will wonders never cease? Now the Liddells are the ones who are questioning their surname spelling because their documentation only goes back 400 years.

Perhaps all the Liddells and the Liddles in their study ought to go to the Lydell family reunion instead of holding their own.

But, cousins all they are—and this is certain because of the Y-DNA chromosome matching and because of their similar surnames.

And this is why Team Liddell et al chose to use the Y-DNA-37 test. It gives clearer and more detailed test results. (For more information, go to http://www.familytreedna.com/faq.html#q1 “Understanding MRCA” and www.familytreedna.com/markerschart.html “Markers Chart”.)

From those two sources just cited, you can see that the Ancient Ancestry 12-marker test and the now somewhat-obsolete 25-marker test are contained within the 37-marker and that markers 38 and above have very little geological value. So forget that 44-45 marker test floating around with some upstart companies. There’s almost nothing there of value.

In fact, the scientists are still refining the mutation rates for markers 26-37 but that’s OK with us. Those of us who have already tested have the values already in hand for that time when the scientists give us the refined mutation rates for them—and that won’t be too far off. Five to ten years, tops!

And that’s it. You can now go talk male genetics with the brainy people working at the Max Planck Institute. Well, not really, but you get the idea.

 

The Mysterious and Ancient World of Woman

            Genetics does not use the same approach with female’s X-chromosome test as they do with the mutating markers of the male Y chromosome. Instead, the science uses the “points” on the female X chromosome.

            (“Points” is a label we just made up. NONE of the literature available to us at the time of this writing provides a label for the series of divisions in the X chromosome which is equivalent to the “marker” for the Y.)

            While the males are galloping along with their fairly “rapid” mutation rate of having a 50-50 odds of experiencing one every 330-360 years, women have the same 50-50 chance every 5,000 to 10,000 years!

            Yes, you read the correct number of zeros! Whereas men mutate on a genealogical basis, women mutate on an archaeological basis. In other words, most living women in any two particular line of mothers matching on all points but one have a Most Recent Common Ancestor who lived at the latest in a time just then experiencing the advent of early writing—some 5,000, but more likely 10,000 years ago.

            As noted in our other texts here at our web-site, the male has both his mother’s mtDNA—which will die with him when he does and which does not pass to his daughters—and his father’s Y-DNA which he will not pass to his daughters but only to his sons. His daughters will get their mtDNA from his wife, their mother. So much for the scientists’ version of the birds and the bees. –Pretty easy to understand, huh?

            The X-chromosome’s values have been established in something called the Cambridge Reference Sequence (CRS). This is a “all-women” array of X-chromosomal values which divided into a HVR1 group and a HVR2 group. Each line of women has its own particular set of values.

            But here is where it becomes difficult for a female genealogists to trace out her own genetic ancestors and kin. In traditional families, the female’s surname changes with each marriage in each generation. Unless this woman has a very wide genealogy chart and a means of contacting a large number of women in collateral lines, she faces a daunting task in assembling her own material line.

            Luckily, FamilyTreeDNA and some other websites are assisting in this search for relationships and while a woman may not know her exact or even approximate relationship to another test-matching female, she is perfectly entitled to call her “sister” once she is found.

            This section is much shorter than the Y-chromosome one because much of the latter’s material is useful to the present discussion and doesn’t need repeating.

            The main matters to remember is that females randomly mutate at the potential rate of one value per point every 5,000-10,000 years and male randomly at the potential rate of one value per marker every 330-360 years, and that males are selfish with their children about their Y-DNA (males only, please!) but women share their mtDNA with their sons but only for one generation and with their daughters completely.

            And that’s all we know about this stuff at this time.

            Happy testing, everyone!

 

(Edited by Jack Dalton Wardlaw, Editor-Team Liddell et al, Nov 2004)