GENEALOGY-DNA-L ArchivesArchiver > GENEALOGY-DNA > 2008-06 > 1212787773
From: DARRELL CHADDERTON <>
Subject: Re: [DNA] Some thoughts on the need for clearer haplogroupterminology and a fresh look at how we report mtDNA results
Date: Fri, 6 Jun 2008 22:29:33 +0100 (BST)
My main worry is that haplgroups are to big and rather see double or treble number of haplgroups for MT and Y dna and most important an universal standard adopted by all test labs to conform into a universnal name for said of the each indivual groups.
William Hurst <> wrote:
Hi Bill and all,
The obvious replacement for the Cambridge Reference Sequence is to use the
haplotype of Mitochondrial Eve as the point from which mutations are
measured. Ian Logan published an article on mtEve's genome in the Fall issue
of the Journal of Genetic Genealogy: http://www.jogg.info/32/index32.htm
The main problem with switching reference points is that thousands of
scientific papers and reports and results have been based on the CRS. Not
only would everbody have to learn a new system; everybody would have to know
both systems. As somebody pointed out here or elsewhere recently: How's
metric and Esperanto coming along in the USA?
I imagine that the current problem is greater with, for example, haplogroup
H and others close to the CRS. Using mtEve would certainly simplify the life
of someone researching L0, for example, which would go from having lots of
differences to not so many. In studying haplogroup K, I have no problem.
Almost every K has three differences each in HVR1 and HVR2 and 20 in the
coding-region. If a K doesn't have, say, 16311C, that doesn't mean he has
kept the CRS value; it means that a back mutation has occurred since the
founding of K. That's all I need to know.
As far the overrepresentation of British ancestry in our studies, I will
point out that many of us with British ancestry are brickwalled in this
country. If you would at the Google map on my K Project website, there are
certainly a lot of pins in the British Isles. But there would be a lot more
if those pins in the USA and Canada were allocated to the real country of
origin. My maternal ancestor didn't really pop out of the ground in Augusta
County, Virginia; but that's where my pin is located.
As for the problem with both mtDNA Y-DNA using the same alphabet, I can live
with that - especially now that the old Y K2 is now T. The only one which
confuses me sometimes is J, which seems about equally common in Y and mtDNA.
>On Jun 6, 2008, at 2:54 PM, Ian Logan writes, in part
> > ... on the horizon is the method of sequencing mtDNA as
> > one single piece of DNA .... now this could be cheap and reliable.
>The more I look at the field we are in, particularly with the approach
>we have been using in investigating mtDNA, the more I have the
>following qualms about it:
>First, I realize that the Cambridge work was responsible for giving us
>a starting point for the mtDNA analysis and definitions of the
>branches of "Eve". It has had its advantages at the beginning, partly
>because it originated at Cambridge at a time when little had been done
>elsewhere. "The beginning defines the early rules of the game!" Credit
>is due to Brian Sykes for his trailblazing efforts. It also has
>possible advantages because the meDNA - in fact all genealogy -
>interest in the US continues to have a very large following among
>people with UK ancestry, as some have pointed out (perhaps as a
>bias...) more recently on this board. But, in the long term, the
>continued usage of a Cambridge standard may take our focus away from
>other areas of the world where the evolution of mankind has been as
>important as it has in the UK and in the US.
>Second, our overlapping terminology of naming haplogroups in both Y-
>DNA and mtDNA has unfortunately resulted in a confusing group of
>identical terms that, without care, cause confusion about whether we
>mean a y-DNA or mtDNA designation when we use the term. When we start
>trying to calibrate those haplogroups in terms of the years when they
>first show up in a sequence, we get into the same type of trouble - a
>confusion in calling some haplogroups in Y-DNA and in mtDNA by the
>same designations. It may be a code that the old-timers understand,
>but I cringe when I think about trying to teach it to a group of
>I have seen this same type of confusion in completely different
>fields. As an astronomer who had some experience in undersea warfare,
>I found that the use of interferometry in both fields had very similar
>approaches and considerations, yet the participants in both fields
>invented very different terminology for the same physical phenomena.
>While this is the exact opposite of the case in genealogy (overlapping
>definitions vs naming the same phenomena independently), I think it
>has been responsible for threatening to slow down progress in the
>future in our field as I saw it to in naval applications, since the
>astronomers were first in the field.
>In the case of our adherence to the Cambridge standard in mtDNA
>studies, I would suggest that it is about time for someone to stand
>back and take stock of where we are. Why? Because of its Cambridge-
>centered orientation. The world is made up of people all over the
>planet who are far different than our Cambridge standard. If we, who
>are largely Americans who have roots in England, adhere to the
>Cambridge standard, it may make our mtDNA departures from that
>standard look rather simple, it will probably not be so simple when we
>look at mtDNA elsewhere in the world. In fact, as we learn more and
>more, and generate more subhaplogroups, it may get so unwieldy that
>keeping track of it will rapidly cause diminishing returns in our
>analysis. We need to take a fresh look at how to pick a standard (or
>perhaps better, to adopt a different reporting approach) that will
>lead to a simpler way than reporting offsets from the Cambridge
>standard. I don't have the insight and experience to suggest the
>proper path to do that, but I do think that we are nearing a point
>where the complications introduced by using that standard may stand in
>the way of future progress in the field.
>This may still be premature, and it is coming from a relative novice
>in the field, but I thought I would see if it causes any resonance of
>thought among our group.
>- Bye from Bill Howard
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