Counting Unique Mutation Events (UMEs)

 

Return to YSTR Mutation Rate Study and Log

 

Unique Mutation Events (UMEs) are always determined by comparing the haplotypes of the descendants tested to the Deduced Ancestral Haplotype of the Most Recent Common Ancestor (MRCA). In the below Excel Spreadsheet example the MRCA is Frederick Kerchner the only son of Adam Kerchner. When doing this it is easier to determine the correct number of UMEs if the haplotype table is sorted by Henry Number order of birth using Henry Numbers or some other method which places the closely related people next to each other per the order of birth shown in the descent tree from the MRCA. In the Kerchner Project example there are 8 highlighted Unique Mutation Events (UMEs) for the known descendant branches of ADAM1 (via the MRCA his son FREDK2) shown in this example. Their haplotype rows are sorted by Henry Number which shows the known genealogical relationships of those tested. Note: There are not 7 unique mutations and there are not 14 unique mutation events, but 8 unique mutation events (UMEs) from the ancestral haplotype. In this example the two separate clusters of allele = 31 mutations for DYS449 are unique mutations since they occurred independently in parallel in two different, geographically separated, and independent lines of descent from the MRCA. Such occurrences are called "parallel mutations". Always double and triple check your traditional genealogical research in such situations to be sure you have your lines of descent for each of those tested correctly proven and that the lines of descent are truly independent. In this case the lines have solidly proven genealogical evidence proving their independence. In addition the lines of descent were living in widely separated states. Also, in this project it can be clearly seen that the lines are independent by studying the Henry Numbers and the fact that for the two mutation clusters which have the 31 mutation at marker DYS449, only one cluster has mutations of 25 at marker DYS390. If they were not independent the two clusters with the allele 31 mutation, one or more of the others would likely share the allele value of 25 at marker DYS390 too, whereas only one haplotype cluster has it. Also note, the mutations at DYS576 from the ancestral value of 17 to 18 for kits 784, 577, 21349, and 51661 counts as only one unique mutation since these three males are recently related and thus all inherited the same mutation from a closer common ancestor between them and the Most Recent Common Ancestor (MRCA) of the whole group who was Frederick Kerchner, the only son of Adam Kerchner, i.e., the second digit in the FREDK2 cluster Henry Numbers. These mutations in the more recently related male branch of descendants are called "shared mutations" because all the descendants in a descendant branch inherited it from a more recent common ancestor in their line of descent from the MRCA of the whole FREDK2 cluster. Thus there are eight Unique Mutation Events (UMEs) in the Y-DNA tested descendants of the Most Recent Common Ancestor (MRCA) in this project. Carefully study the Excel spreadsheet below after reading the above and count the unique mutation events. Again, when compiling your own UME counting Excel spreadsheet and counting the UMEs for a known to be related cluster of participants in your project, be careful not to double count a UME shared by close recent relatives such as the allele value of 18 for marker DYS576 in this example for kits 784, 577, 21349, and 51661 and the allele value of 25 for marker DYS390 for kits 2998 and 2953. See the below Excel spreadsheet example which shows by highlighting the mutations found in the various participants in my Kerchner Surname Project. Also read the notes below the Excel table as those notes provide additional information for several of the members in the project.

 

See Kerchner Surname Project ADAM1/FREDK2 Descent Chart Example for a Unique Transmissions Events Counting Diagram

Overview and Discussion of DNA Mutation Rates

 

 

 

 

 

 

 

M

A

R

K

E

R

#

 

a

n

d

 

D

Y

S

#

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

1

2

3

4

5

6

7

8

8

10

11

12

13

14

15

16

17

18

19

20

21

22

23

24

25

26

27

28

29

30

31

31

33

34

35

36

37

 

 

Kit

Name

Henry Numbers

*

3

3

3

3

3

3

4

3

4

3

3

3

4

4

4

4

4

4

4

4

4

4

4

4

4

4

G

Y

Y

4

6

5

5

C

C

4

4

 

H

9

9

9

9

8

8

2

8

3

8

9

8

5

5

5

5

5

4

3

4

4

6

6

6

6

6

A

C

C

5

0

7

7

D

D

4

3

 

a

3

0

4

1

5

5

6

8

9

9

2

9

8

9

9

5

4

7

7

8

9

4

4

4

4

0

T

A

A

6

7

6

0

Y

Y

2

8

 

p

 

 

 

a

b

 

 

 

|

 

|

 

a

b

 

 

 

 

 

 

a

b

c

d

 

A

 

 

 

 

 

 

 

 

 

l

 

 

1

 

 

 

 

 

 

1

 

2

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

I

I

 

 

 

 

 

 

 

 

 

o

 

 

9

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

H

I

I

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

4

 a

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Reference Haplotypes

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

AMH (6)

 

R1b

13

24

14

11

 

 

 

12

 

 

13

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

WAMH (12)

 

R1b

13

24

14

11

11

14

12

12

12

13

13

29

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

SWAMH (37+)

 

R1b

13

24

14

11

11

14

12

12

12

13

13

29

17

9

10

11

11

25

15

19

29

15

15

17

17

11

11

19

23

16

15

18

17

37

38

12

12

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

M

E

M

B

E

R

Cluster MRCA is FREDK2 for kits 4085 thru 8335

Deduced
Kerchner
Ancestral
Haplotype by Triangulation

Immigrant ADAM1 father of FREDK2 cluster. FREDK2 is 2nd digit in Henry Number and is the MRCA for this descendant cluster. See Descent Chart.

R1b1

13

24

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

30

15

15

16

16

11

11

19

22

16

15

17

17

36

37

12

12

 

1

4085

Kershner-OR

1116584 (1)

R1b1

13

24

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

30

15

15

16

16

11

11

19

22

16

15

17

17

36

37

12

12

 

2

2998

Kerchner-MA

11184115

R1b1

13

25

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

31

15

15

16

16

11

11

19

22

16

15

17

17

35

37

12

12

 

3

2953

Kerchner-VA

11184161

R1b1

13

25

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

31

15

15

16

16

11

11

19

22

16

15

17

17

36

38

12

12

 

4

5726

Kerchner-CA

11185312

R1b1

13

24

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

30

15

15

16

16

11

10

19

22

16

15

17

17

36

37

12

12

 

5

784

Kerchner-PA

112216A1

R1b1

13

24

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

30

15

15

16

16

11

11

19

22

16

15

18

17

36

37

12

12

 

6

577

Kerchner-PA

11221782

R1b1

13

24

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

30

15

15

16

16

11

11

19

22

16

15

18

17

36

37

12

12

 

7

21349

Kerchner-PA

11221783

R1b1

13

24

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

30

15

15

16

16

11

11

19

22

16

15

18

17

36

37

12

12

 

8

51661

Kerchner-PA

11227222

R1b1

13

24

14

11

11

16

12

12

11

13

13

29

17

8

10

11

11

26

15

19

30

15

15

16

16

11

11

19

22

16

15

18

17

36

37

12

12

 

9

816

Karchner-OH

11528111 (2)

R1b1

13

24

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

31

15

15

16

16

11

11

19

22

16

15

17

17

36

37

12

12

 

10

8335

Karchner-OH

1152841 (2)

R1b1

13

24

14

11

11

16

12

12

12

13

13

29

17

8

10

11

11

26

15

19

31

15

15

16

16

11

11

19

22

16

15

17

17

36

37

12

12

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

11

3074

Kerchner-OK

See Note (3)

I

14

22

14

10

13

14

11

15

11

12

11

28

14

8

9

8

11

23

16

20

28

12

14

15

16

10

10

19

21

15

14

16

19

35

39

12

10

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

12

8670

Kariger-IN

FREDK1 Cluster 14A23234

See Note (4)

R1b

13

24

14

11

11

15

12

12

12

13

13

28

17

8

10

11

11

26

15

19

30

15

15

16

16

11

11

19

22

16

15

17

17

36

37

12

12

 

13

581

Karriger-MI

FREDK1 Cluster

14A25111

See Note (4)

R1b

13

24

14

11

11

15

12

12

12

13

13

28

17

8

10

11

11

26

15

19

30

15

15

16

16

11

11

19

22

16

15

17

17

36

37

12

12

 

 

Table Notes:

(1) This descendant branch changed the spelling of the surname in their branch from Kerchner to Kershner.

(2) This descendant branch changed the spelling of the surname in their branch from Kerchner to Karchner.

(3) This descendant branch was genealogically known to be related via traditional research but did not match genetically. Thus kit number 2074 is

not included for UME/UTE counting determination purposes.

(4) Traditional genealogical evidence indicates the Karriger line (FREDK1 line) originally spelled their surname as Kerchner in Pennsylvania and were thought by most researchers to be probably related to the Kerchner/Karchner (FREDK2 line) and the Genetic Genealogy information near-match between the two lines reinforces that traditional evidence surmise. But the paper trail cannot connect them yet. The Most Recent Common Ancestor (MRCA) who theoretically would be shared shared common ancestor of the Karriger group and the main FREDK2 Kerchner group of descendants is not known at this time. That unknown earlier shared MRCA for the two groups above, based on the haplotype similarities of the two groups and other traditional evidence has led me to surmise that he lived about 360 years ago, i.e., circa 1647. See the Kerchner Project Success Story page, link below, for more details.

 

What is a Henry Number?

 

See Kerchner Surname Project Success Story Page Discussion of Results

 

Copyright 2005-2006

Charles F. Kerchner, Jr.

All Rights Reserved.

Page Created: 2 Dec 2005

Last Updated: 3 Dec 2006