Tuesday, May 31, 2016

DNA Testing - High-Tech Genealogy Research


One of the two genealogy-based TV shows usually wraps up episodes with a segment about DNA testing of their guests. Have you wished the moderator would explain more about the tests? Glad you asked. Let’s look into DNA this month.

We’ve addressed genealogy a couple of times in these articles and family history remains the most common query we get at the Sutton Museum. The story of the families of past Sutton residents often reveals details of the town’s story. And it is often interesting to learn where those Sutton residents came from. Let’s see how you can use DNA to really look at where we came from.

First, the basics. DNA is a molecule of deoxyribonucleic acid. DNA molecules are in the nucleus of every cell in your body and contain four chemicals identified as A, G, C, and T. They pair up into “base pairs” - A with T and C with G as depicted in Figure 1. The outer bands are molecules of phosphate and sugar and that’s what DNA looks like, in all of the trillions of cells in your body. Human DNA has about 3 billion base pairs and more than 99% is the same for all people. The tiny amount of differences account for all the varying characteristics of all people.


Figure 1.The well-known Double-Helix model for the DNA molecule was
first published in Nature Journal in 1953 by Watson and Crick.
Change just a wee bit more of our human DNA and the arrangement of the same components will produce other primates, mammals, insects, trees, grass and a toad. DNA of all living organisms contain just different arrangements of those A, T, C and G things. (there’s always an exception: some viruses, otherwise, yes.)

Now for the X-rated portion – well “R?”. When any reproduction occurs, the Daddy DNA splits randomly into two pieces and one piece joins with a half of a DNA piece from the Mommy, again some random half. If Daddy was an Angus bull and Mommy was a Herford cow, the calf will likely look somewhat different from either of them. If the Daddy was a Poodle and the Mommy was a German Shepherd, well, I don’t want to think about that. Daddy is a tall grass, Mommy is a shorter grass, something in between is “likely”.

Same thing for you and I. You inherited one half of your DNA came from Dad, ½ from Mom, and by “inherited” we really mean that you have ½ of those defining characteristics for each parent imbedded in your genetic make-up. You may get mom’s blond hair, dad’s blue eyes. And your brother may get dad’s tendency to lose hair and mom’s brown eyes. Not all DNA gets used but it gets passed on. Your baby picture may look a lot like grandma’s. It means ¼ of your DNA came from each grandpa and from each grandma. One-eighth from each great-grandparent, etc.

Your DNA has about 3 billion DNA base pairs that came down your family tree to you. You may have some base pairs that came from Charlemagne’s DNA, or Julius Caesar, or Genghis Khan. (Mr. Khan is a special case. He and his sons were prolific. About 1 in every 200 men on the planet are descended from Mr. Khan, lots of women, too.)

What can we learn from DNA tests? We’ll look at three types of tests based on “how far back.”

I’m most familiar with the ancestry.com test. They do two analyses called “matches” and “ethnicity.” Match testing looks for relatives that would appear on a family tree you’d construct by classic means of grandma’s stories, census records, church and government records and the work of other researchers.

Ethnicity testing looks at where your distant ancestors were likely living from 500 to 1000 years ago. Ancestry identifies 26 regions of the world and gives you a rough percentage estimate of how much of your DNA came from folks in each region.



Figure 2. A DNA test will illustrate your relationship with someone else whose DNA test is on file. In this case, granddaughter Emily was a match with a fellow in the blarsonfamily. Both of us had extensive family trees on file and ancestry.com's software located the common ancestors, Emily's 6th great grandparents, two generations earlier than our immigrant Israel Aspegren.
I also use another web site called gedmatch.com. I’ve copied my “raw DNA” data from ancestry.com uploading it on gedmatch where a number of researchers have software that you can compare your DNA with any of many databases created using the DNA of people known to have come from some region. These tests look at a time period a few steps back from ancestry’s ethnicity test. Actually, a long hike back. Groups, and individuals have migrated around the planet for thousands of years. This series of tests looks back 8,000 to about 40,000 years ago.

Let’s back up. We don’t learn much just looking at your DNA string of A, T, C and G pieces in isolation. We have to compare it with something else, some known thing, either someone else’s DNA or a database that “summarizes” a bunch of known people. If your DNA looks more like those people than other groups, you likely have some connection to them. Pretty simple, huh?

Simple, but a lot of work. Comparing 3 billion of anything with a bunch of other 3 billion things takes a while. DNA testing doesn’t even do that. Portions, “snips” of DNA are tested. The main ancestry.com ethnicity test uses 700,000 snips of your DNA to test against 700,000 snips from each of the thousands of others who’ve tested. But still, you better use a computer. And there you have it.

Now, down to business.

What is DNA testing? I’ll defer to the experts. Here are 12 videos of a few minutes each (1 is 15 minutes) Grab some popcorn. I’ll see you on the other side…  https://www.ancestry.com/academy/course/ancestry-dna-101

All right. Did you enjoy the movie?  Okay, let’s take a look at what a few test results look like.

I took the ancestry.com test about two years ago and my granddaughter Emily took the test last December. I’ve probably learned four times as much examining the two tests than with just one.

Ancestry compares the results of your DNA test with the results of all others who’ve taken the test. When they find a DNA match between two tests, they can estimate how close the match is – as distant as eighth cousins. The common ancestors for eighth cousins will be their 7th great-grandparents. Those are likely people who were born about 1650, give or take.

That is what the DNA test tells you – this other tester is related, at about this level of cousinhood.

Remember what the speaker in the movie above emphasized? You need to have your family tree file at ancestry.com to go further.

Figure 2 shows the relationship between our granddaughter Emily and another DNA test identified as “blarsonfamily”. That family member who took the test is Emily’s 4th cousin, 3x removed – that is he is my father’s 4th cousin and my 4th cousin 1x removed. Our common ancestors are Johan Börjesson and Sara Ericksdotter. The ancestry system could only tell us all that because both the blarsonfamily and I had posted our family trees on ancestry.com and both of us have our lines traced to that couple.

Could we have made that connection without DNA? Yes, with a bit of work. But, if you’ve done family research there is a tinge of doubt about some lines. Records may have been ambiguous, you may have copied data from another research that looked “pretty good” and, not to dwell on the topic, but families sometimes have rumors and whispers that cousin Billy looks more like the mailman that Uncle William. Most are likely groundless stories, but…who knows. DNA connections do not have that kind of uncertainty. When we get a DNA match, then the records were good; my research was solid and Aunt Annie deserved better.

A word about this specific family tree. Johan Börjesson was born in 1738 in Åsby, Östergötland, Sweden. You’ll see the Aspegren’s in Figure 2. Israel father, Greta’s husband was Peter Jönsson so Israel was named Israel Petersson under the Swedish patronymic system. For some reason, before he immigrated Israel’s son Adolph changed his name to Aspegren. Israel and his other sons Axel August and Carl Gustaf also took up the name before coming to America.We don’t know why.

We do know that the Aspegren/Petersson family was poor in Sweden. The Swedes included a title with names on official records. It was a title recognizing the person’s economic, and probably social status. On Adolph Aspegren’s birth record his father Israel is idenitied as backstugsittare – literally ”hill cottage sitter” or ”back hut dweller” and fattighjon - ”pauper.”

I recently was in contact with a fellow in Sweden discussing one of our common relatives. I mentioned that this woman had worked in Adolph Aspegren’s bank in Saronville. He fired back an email asking what I meant – did Adolph Aspegren own a bank in America? I had to answer that, “No, he had two banks. He was President of the Farmers State Bank of Saronville and the bank in Verona.” The fellow was excited that the Aspegren’s had come so far from their situation in Sweden.

Israel Aspegren would have been described with a different word if he’d been even the poorest farm laborer or rented his dwelling. He was most likely dependent on the village or a friend or relative for support. The family may have had a small garden, maybe a few chickens but little else. They would have been “dirt poor” if they would have had dirt.

The extended Aspegren family includes many in northeast Clay County who can take pride in what our Aspegren ancestors did. This is what the rewards of genealogy look like.

But I digress.

I have 37 DNA contacts on ancestry.com with the common ancestor identified as described above. Emily has 75.

The next category of DNA matches on ancestry.com is “4th cousins or closer.” This includes matches in which one of both of the online family trees do not contain enough information to pinpoint the common ancestor. But there are hints that enable us to contact that match and discuss what we know. I have 115 such 4th cousins, Emily has 89.

The Big Category is the list of all matches up to the 8th cousin level. The DNA analysis system found some common DNA indicating we are related. These lists continue to grow as more tests are posted. I have over 4,000 such matches, Emily’s list is closing in on 5,000.

Ancestry does an analysis of your ethnicity. This will be the first thing you’ll look at when you get your results back, guaranteed.


Figure 3. My ethnicity profile, pretty much as predicted from my known
family tree though I can not identify most of the trace regions.
My ethnicity information is at Figure 3. These are estimates and the “range” is wide. My Scandinavian ethnicity is 52% with a possible range of 30%-70%. I suspect that the wide range reflects the randomness of the way parents’ DNA splits as much as it does the characteristics of the test. Remember the movie and the wide range of ethnicity variations among the four siblings?

Ancestry provides a lot of additional information about the process. Scandinavian ethnicity is the result of a comparison with a composite of 272 people native to Scandinavia. The Europe West database has 416 individuals; the Irish has 154.

My family tree would lead you to expect my ethnicity to be 50% Swede, 25% Scot and 25% from the colonial period, mostly English and Irish. My Irish component would be almost exactly 6% based on my 4th great, grandparents. But this ethnicity test is looking at regions during the period from 500 to 1000 years ago. The European regions in my test are shown in Figure 4.

Emily’s ethnicity is more Great Britain, less Scandinavian and more mainland Europe. Her numbers make it look like I’m probably the only grandparent passing along the genes of the Emerald Isle.

Figure 4. We have some latitude in defining regions.
Ancestry uses these regions in my profile.
I tried another website and its offerings. I downloaded our raw DNA files from ancestry.com and loaded them at gedmatch.com. This site is free. Ancestry.com charges $100 for a test, occasional sales at $90 or $80.

Gedmatch.com goes way back to the early human migrations, about 8,000 to 40,000 years ago.

There are numerous websites and videos about early human migrations. This topic, like DNA analysis is only a few decades old. And DNA research has had a role in understanding early human migration. You can get a taste of this topic at  http://www.bradshawfoundation.com/jouney/


Gedmatch also has a provision to upload your family tree, this time in the universal GED format so you have both means to connect with relatives, DNA and tree files. However, the gedmatch database has far fewer contributions.

Gedmatch has several different comparison programs, some seem to be the pet projects of individual researchers who use specific, narrowly focused databases. I can’t say I understand much of what I know about them.

Emily’s test results from one test is at Figure 5. It is the “Admixture MDLP project, version K13 Ultimate.” There are many different tests and variations.

The first issue is the vocabulary – it’s variable, not standardized. Her big green pie slice is ENF, European Neolithic Farmers. These guys came into Europe about 10,000 years ago and were among the first farmers. That might be where the Brits came from.



Figure 5. Granddaughter Emily's long-ago genetic profile - from 8,000 to 40,000 years ago. The website gedmatch.com offers several different tests against varying control populations giving different estimates for these tests. These tests are not associated with individuals and not even nationalities (there were no Swedes or Germans 8,000 years ago) but we're looking here at ancestors from prehistoric times, often wandering bands of early humans.
ANE stands for the main Northern Eurasians. Scandinavians? WHG-UHG stands for ancient European Mesolithic hunter-gathers and the initials literally mean “Western Hunter Gatherer – Unknown Hunter Gatherer.” Estonians, Lithuanians and Finns have a high percentage of this DNA so our Scandi’ folk may have come from this bunch.

The Caucas-Gedrosia refers to southeast Asia and much of the Africa – Europe early migrations went through there.

Emily has some teeny DNA bits that I don’t have. There is a wee, wee, wee bit of American Indian. That shows up on almost all of these tests I’ve tried for her file on gedmatch. Her “Siberian” bit has only shown up on this test. And she has more than 1% Subsaharian African DNA. That is one of two major African-American groupings. This one includes Mandinka, Yoruba and Esan among others. Where did that come from? Well, three of her grandparents, myself included, had ancestors in Colonial America where slaves were held even in New England and in the south to 1865. The TV show “Finding Your Roots” has examined a number of celebrities with mixed-race ancestry and learned the details of those distant parents.

Another ancestry DNA kit is on the way to Emily’s cousin in California and I’ll soon start juggling three sets of matches and tests. This granddaughter’s father is African-American with family lines we can trace to the Alabama-Georgia border before the Civil War. More fun ahead. And one of our daughters has tested with yet another DNA system associated with National Geographic. I’ve only peeked at those results.

DNA testing contributes to our understanding of our history on so many levels. Each and every of the trillions of cells in your body contains information about your parents, grandparents and distant ancestors way back to the beginning of mankind…and even beyond, but that’s another story.

If you have questions about DNA testing or would like more information about how to try this yourself, feel free to contact me at jjhnsn@windstream.net.

This article first appeared in the April, 2016 issue of Sutton Life Magazine. Contact Jarod Griess at mustangmediasales@gmail.com for more information about his publication.

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