06 August 2013

DNA Testing for Genealogy 101 - What Can It Do For You?? Part 2

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We at Upfront with NGS are very excited to bring you this four part series on DNA testing and its genealogical uses ...

If you missed part 1, click here!

Article courtesy of Roberta Estes, www.dnaexplain.com,
Graphics courtesy of Roberta, Family Tree DNA, www.familytreedna.com and the ISOGG wiki at http://www.isogg.org/wiki/Wiki_Welcome_Page.

What About Mutations?

Another really good question.

Y-line DNA testing actually tests either 12, 25, 37, 67 or 111 locations on the Y chromosome, depending on which test you select.  What is actually reported at these locations is the number of exact repeats of that segment of DNA.  Occasionally, either a segment is dropped or one is added.  This is a normal process and typically affects nothing.  However, for genealogy, these changes or mutations are wonderful, as the number of segments in a particular location will typically be the same from generation to generation.  These mutations differentiate us and our families over time.  Without mutations, all of our DNA would look exactly alike and there would be no genetic genealogy.

For mitochondrial DNA, you can test at the entry level, the intermediate “plus” level and at the full sequence level.  If you think of the full sequence level, which tests the entire mitochondria, as a clock face, the entry level test tests from 5 till the hour to “noon” so from 11AM to 12 on the clock face.  The second intermediate level tests from “noon” to 5 after, or 1PM.  The full sequence level tests the entire clock face.  Ultimately, if it’s matches you’re looking for, you’ll want the full sequence test to provide you with the best matches and the ones closest to you in time, plus it provides you with your full haplogroup, or clan, designation.

When a change, called a mutation, does occur at a particular location, it is then passed from father to son (or mother to daughter) and on down that line.  That mutation, called a “line marker mutation” is then forever associated with that line of the family.  If you test different males with the same surname, and they match except for only a couple of minor differences, you can be assured that they do in fact share a common ancestor in a genealogically relevant timeframe.

A father can potentially sire several sons, some with no mutations, and others with different mutations, as shown by the red mutation bar in the following illustration.


In the above example, John Patrick Kenney had two sons, one with no mutation and Paul Edward Kenney who had one mutation.  All of the male descendents of Paul Edward Kenney have his mutation and a second mutation is added to this line at a new location in the generation above Stan Kenny.

John Patrick Kenney’s son who had no mutations sired a son Joseph Kenney, who had a mutation in yet a different location than either of the mutations in the Paul Edward Kenney line.

In the span of time between 1478 and 2004, this grouping of Kenney/Kenny families has accumulated 4 distinct lines as you can see across the bottom of the diagram, line 3 with no mutations, line 1 with 2 mutations, and two other lines with only one mutation each, but those mutations are not in the same location so they are easily differentiated in descendants testing today.  These are called “line marker” mutations and allow testers to quickly and easily see which line of the Kenny family they descend from.


What Do the Results Look Like?

Y DNA results are reported in the following format at Family Tree DNA where locus means the location number, the DYS# means the name of that marker location, and the number of alleles means the number of repeats of DNA found in that location.  This is a partial screen shot from the Family Tree DNA results page for a participant.


This is interesting, but the power of DNA testing isn’t in what your numbers alone look like, but in how they compare with others of similar surnames.  So, you’re provided with a list of people that you match, along with access to their Gedcom file if they have uploaded one, most distant ancestor information, and most importantly, their e-mail address by clicking on the little envelope right after their name.


As a DNA Surname Project Administrator of several projects, I combine the groupings of participants into logical groupings based on their DNA patterns and their genealogy. Haplogroup projects are grouped by subgroup and mutations, and surname projects are grouped by matching family group.

The following table is an example from my Estes surname project which has very successfully identified the various sons of the immigrant ancestor, Abraham Estes born in 1647.  Based on his descendent lines’ DNA, we have even successfully reconstructed what Abraham’s DNA looked like, shown in green, through a process called triangulation, so we have a firm basis for comparison, and everyone is compared to Abraham.  Mutations are highlighted in yellow.

I have shown only an example of the full chart below.  Moses through John R’s line does have line marker mutations on markers that are not shown here.  Elisha’s line matches Abraham’s exactly.  We have had 4 descendents test from various sons of Elisha and so far we have found no mutations.

Locus
1
2
3
4
*5
*6
7
8
*9
10
Kit #
393
390
19 (394)
391
385a
385b
426
388
439
389-1
Abraham
13
25
14
12
11
14
12
12
12
13
English Estes Line (Reconstructs Sylvester, Abraham's father)

16532
13
25
14
12
11
14
12
12
11
13











Moses through John R Line







9993
13
25
14
12
11
14
12
12
12
13
11375
13
25
14
12
11
14
12
12
12
13











Poss John thru Elisha and Micajah line descendents


13044
13
25
14
12
11
14
12
12
12
13
14107
13
25
14
11
11
14
12
12
12
13
16355
14
25
14
11
11
14
12
12
11
13










Thomas line









12088
13
24
14
11
11
14
12
12
12
13



Sylvester line









13805
13
25
14
12
11
14
12
12
12
13
17420
13
25
14
11
11
15
12
12
12
13











Robert's line thru son George son Bartlett son John Bacon

14220
13
25
14
12
11
14
12
12
13
13











Elisha's line (matches Abraham exactly)




12563
13
25
14
12
11
14
12
12
12
13
19696
13
25
14
12
11
14
12
12
12
13











Abraham's cousin Richard line - Northern Estes line



12630
13
25
14
10
11
14
12
12
12
13
14167
13
24
15
11
11
15
11
13
10
14
This group helped us reconstruct Abraham’s DNA.  Please notice that participant 14167 either has unsound genealogy or an unrecorded adoption has occurred.









Moses in SC line








20835
13
22
14
10
14
14
11
14
11
13
Note that this line, even though the last name is Estes, does not match the Abraham Estes line. 











Susanna Estes line






21235
13
24
14
11
11
15
12
12
12
13
This and the following group represent illegitimate births where the men took the mother’s last name of Estes, but their DNA does not match the Estes male line.











Nancy Estes and Jesse Mullins






14900
13
24
14
11
11
14
13
12
13
13

To form a baseline within a family, we generally test two individuals from two separate lines of the common ancestor, just in case an undocumented adoption has occurred.  If these two individuals match, except for minor mutations, then we know basically what the DNA of your ancestor looks like and others can then test and compare results against that established line.  

If you’re a female and can’t test for y-line markers, you’re not left out.  You’ll need to use traditional genealogy to find male lineal descendants of your ancestor that carry the family name.  Consider offering a scholarship for a descendent of that line to be tested and then advertise on Rootsweb lists and boards, on Yahoo groups, on Facebook and anyplace else that you think would be effective.

Mitochondrial results look slightly different from Y-line, but the match information is in essence the same.


Check back tomorrow for Part 3!



Roberta Estes


Copyright 2004-2013, DNAeXplain, all rights reserved.




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