Archiver > GENEALOGY-DNA > 2007-07 > 1185662736

Subject: Re: [DNA] Is H2a2 the same thing as H2b?
Date: Sat, 28 Jul 2007 18:45:36 EDT

>Was the CRS really once H2b and now it's H2a2,
>do Roostalu and someone else disagree......
The answers are 1. maybe and 2. yes.

Family Tree DNA still classifies the CRS as H2b when
they do the sub-clade testing as defined by the tree at:

However, when FTDNA does full genomic sequencing, FGS,
then they switch over to Roostalu's November 2006 tree (in the
research article: Origin and Expansion of Haplogroup H, the
Dominant Human Mitochondrial Lineage in West Eurasia..)
which is entirely different. Here 750A polymorphism is
listed as being in the H2a2 sub-clade which is exclusive
of the H2b category. I asked for clarification from FTDNA
once and the response was "I am not sure I understand how
one labels H2a2a without FGS." So maybe I should have asked
a simpler question, such as: Which sub-clade does 4769A
define, H2 alone or H2a? Then which sub-clade does 750A
usually define, H2b or H2a2? Right now we cannot
even post results at Mitosearch under H2a2. I guess the
scientific community still needs to agree on this sub-clade
before we can answer your question.
>do the markers 4769G, 1438G, and 8860G among others
>differentiate H2a from H2b?
It depends.

The old H2 shows 4769A, then H2b adds 750A.
The new H2 shows 1438A, H2a is defined as 4769A, then
H2a2 includes the 750A which is found in the CRS.

Some H2a2 groups have 8860G, others have the 8860A as
was the case with the "old" H2b as well. The CRS shows
8860A but the St. Luke motif shows 8860G although I have
not seen all the coding regions myself to say for sure. The
Scottish variety seems to include the 8860G.
Roostalu's new H2b has nothing to do with the old 4769A and 750A
group that has been used in the past to define H2b. Roostalu's
H2b excludes these two polymorphisms which means just about
everybody who is listed as H2b at Mitosearch is listed incorrectly
if Roostalu's new tree is adopted. Under the new Roostalu tree
the 4769 polymorphism would differentiate the H2a's from the H2b's.
Under the old tree, the 750 defined H2b and 951 defined H2a.
You need to see both trees to visualize what I am saying.

The H2a2 group includes the CRS and some haplotypes that
have as many as 11 differences from the CRS. It is too bad
the people who test at HVR1 and get the results of CRS do
not take their testing further to include the FGS. There must
be some intermediate haplotypes yet to be discovered that
would help to better define the phylogenetic tree. There has got
to be more diversity than the bloody British evolutionary
biologists would lead you believe. The HVR1 CRS people think they
represent a boring sub-clade so they give up looking further.

If you look at GenBank for those H2a2 people who resemble
the CRS, there are hardly any besides the original CRS
mtDNA even though there are probably thousands of people who
have been minimally tested who should fit into a related sub-clade.
So, there is much work to be done to help define and categorize
the H2s.

Kathy Johnston, not Johns (AOL advised most of us Johnsons and
Johnstons to shorten our e-mail names to Johns___ years ago.)

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