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From: "William Hurst" <>
Subject: New mtDNA Fluxus diagram of seven K's with full-sequence tests
Date: Thu, 03 Aug 2006 09:55:40 -0400


Hi all,

I have uploaded a new Fluxus diagram to my website at
http://freepages.genealogy.rootsweb.com/~wrhurst/mtdna-k/kmega.jpg This one
is for the seven members of the mtDNA Haplogroup K Project who have taken
the mtDNA full-sequence, or Mega, test at FTDNA. The first problem in
creating this diagram is that the coding-region mutations from the Mega test
are usually not published, since they potentially reveal medical
information. They are not even available to project administrators. So what
I have done is to use the members' control-region (HVR1 + HVR2) mutations
from the K Project public website -
http://www.familytreedna.com/public/mtDNA_K/ - and the control-region
mutations for the members' designated subclades from the K chart in Dr.
Doron Behar's paper at http://www.familytreedna.com/pdf/43026_Doron.pdf
Therefore, the data used is partially individual and partially generic. The
resulting diagram does not show coding-region mutations from the CRS to K or
the individuals' "personal" coding-region mutations.

The creation of the diagram began with Tom Glad's "mtDNAtool: An mtDNA
Analysis Utility" version 0.44 at
http://freepages.genealogy.rootsweb.com/~glad/dna/mtdnatool.html Since this
utility only provides for HVR1 and HVR2 entries, I simply added the
coding-region mutations as HVR2 entries. Didn't seem to matter. Behar's
chart does not show the nucleotide letters for the coding-region mutations,
so I looked them all up. But I finally decided not to use the letters, so
that the coding-region mutations are easily identified as those without
ending letters. As usual, I included a "Kroot" node, which contains the six
basic HVR mutations for haplogroup K.

Even after trying to weight the mutations, giving higher weights to the
coding-region ones, then the defining HVR mutations, then the recurrent
mutations, then the personal mutations, the resulting diagram still showed
all possible routes from one point to another. So after some rearranging of
the lines in Fluxus, I moved the diagram to Paint and erased the impossible
or less-likely lines. The result may be a little messy, with the dots from
the previous branching points mostly still there, but the simplified version
should be readable.

To read the diagram, start with the "Kroot" at the bottom center.
Immediately heading off to the the right is the only member of the K2 major
subclade, a K2a. (All the nodes are the same size, since there is only one
kit number per node. Each node is labelled with the kit number and the
subclade designation. The order of the mutations between nodes and branching
points is not significant. With one exception the order of the mutations is
otherwise probably chronological.) Continuing from the root to the left you
reaching branching point mv1. That line includes the two coding-region
mutations which define K1. The lowest line from there is to a K1c2. Next is
a line to a K1b2. Next is a line to mv2 showing mutation 497T, which defines
the very large subclade cluster K1a. Up from there is a line to two
different nodes marked K1a*, one with four extra HVR mutations. From mv2
left to mv9 the line contains coding-region mutation 11914, which defines
K1a1. (The exception mentioned above is the 309.1C mutation on that line; it
would probably move further downsteam if more examples were added.)
Branching from there are lines to individuals in subclades K1a1a and
K1a1b1a.

One advantage of viewing this diagram rather than simply looking up the
subclades on Behar's chart is that I have shown all the HVR mutations
including the 524 insertions. As I have discussed before, the 524 insertions
are "recurrent but not random." On this small diagram they appear on the
K1a* and K1b2 branches, but not on the K1a1b1a and K1c2 branches. I haven't
investigated their occurence on the K2 or K1a1a branches.

Bill Hurst
Administrator, mtDNA Haplogroup K Project


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