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.
Overview
and Discussion of DNA Mutation Rates
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