GENEALOGY-DNA-L ArchivesArchiver > GENEALOGY-DNA > 2008-09 > 1221937615
From: Itzhak Epstein <>
Subject: [DNA] Haplogroups? Clades? Haplotypes? (was: What shall R1b1c callthemselves now?)
Date: Sat, 20 Sep 2008 15:06:55 -0400
It is important to be consistent when using technical or scientific
terminology. It is not like disagreeing about the qualifications for
a national vice presidency. Therefore, when discussing variations in
the Y-DNA chromosome, I was led to understand that haplogroups differ
from each other according to SNPs; haplotypes (depending on the
markers used) differ from each other according to STRs; modal
haplotypes are the combined modes of each marker for any relevant
group; and clades are synonymous with haplogroups, except that
"sub-clades" means downstream haplogroups. If the definitions above
are wrong, then let's agree on different ones. With all due respect
to the talented amateurs in this forum, here is not where the
terminology of population genetics should be decided.
Still, I would have been happier had "haplogroup" maintained its SNP
based definition and "clade" included additional major
differentiations,. Would ht15 and ht35 have qualified as clades?
This subject is of particular concern to me because my extremely
outlying haplotype sets me and my family apart from my R-U152/S28
haplogroup. Two months ago, I posted the following to FTDNA's DNA
and Genealogy forum:
===================START OF QUOTE============================
My FTDNA deep clade test confirmed that my haplogroup is R1b1b2h*,
aka ISOGG R1b1b2a2g*, aka R-S28/U152, formerly R1b1c10*. Thus, I got
a small step closer to identifying my patrilineal family's ancient
origins. Consequently, I joined "Kerchner's R1b1b2h (U152+) Project"
and took a look at my fellow members' SNPs at
. I identified 87 potentially qualified haplogroup members, and
started to analyze the patterns.
58 observations had all 67 markers
25 observations had only 37 markers
3 observations had only 25 markers
1 observation had only 12 markers
The historic Epstein surname first appeared in Frankfurt am Main
around 1400 and a healthy plurality of the Epstein surname project
(see http://www.familytreedna.com/public/Epstein&fixed_columns=on )
members seem to be descended from that family (or its near
ancestors). A few of the 15 who share this modal haplotype cannot
trace their ancestry to the Epstein surname. I compared our modal
haplotype to the various fellow haplogroup members' and discovered
that 12 of our modal markers (not counting most of the fast moving
ones) are infrequently represented on the table:
DYS 390 = 23 in 10% of the observations
DYS 391 = 10 in 38% of the observations
DYS 385a = 10 in 3% of the observations
DYS 385b = 10 in 1% of the observations
DYS 459b = 9 in 20% of the observations
DYS 442 = 11 in 7% of the observations
DYS 438 = 13 in 7% of the observations
DYS 557 = 15 in 5% of the observations
DYS 481 = 23 in 17% of the observations
DYS 446 = 14 in 12% of the observations
DYS 492 = 11 in 3% of the observations
DYS 565 = 11 in 9% of the observations
All of the historic Epstein mutations, with one exception, are one
step from the haplogroup's modal haplotype. The exception is the
I would have excluded DYS 391 from the list above, but because of its
prominent role in many tests, I included it.
With so many rare STRs, we seem to have separated from the rest of
the haplogroup long ago. How likely is it that an SNP is lurking
downstream to identify us less ambiguously?
It is also interesting to note that two observations are intriguingly
potentially closer than the others are to the Epsteins. Both have
only 37 markers. One (#88,899) hails from Italy, while the other
(#100,804) from Norway. If the remaining 30 markers would show
additional significant matches, then my speculations may get
livelier. Yes, I should know more about genetics before speculating
this much. However, I am open to being enlightened on the subject.
My Y-Search ID is WWZQC
===================END OF QUOTE============================
The Norwegian above tested for all 67 markers and the results do not
match much. Out of our surname's five non-conforming markers, he
conforms with the rest of the haplogroup on four. A professional
observation may find the comparisons more promising.
At 08:58 PM 9/16/2008, Dienekes Pontikos wrote:
>----- Original Message -----
>From: "Dienekes Pontikos" <>
>Sent: Tuesday, September 16, 2008 6:33 PM
>Subject: Re: [DNA] What shall R1b1c call themselves now?
> > You can't have a haplogroup without a UEP. Not once in the last 8
> > years has the term "haplogroup" appeared in the scientific literature
> > without reference to a UEP.
>Bah, humbug with the scientific literature; ISOGG defined a haplogroup in J
>on the basis of a very decisive STR mutation of a few steps and which they
>argued had attributes of being a UEP. I have no doubt that those pushing
>for this haplogroup designation in J would have tried pushing for DYS455 = 8
>being a haplogroup-defining mutation for I1 if 15 other normal SNPs had not
>come along. Actually, this acceptance of a radical STR mutation or isolated
>motif for this J "haplogroup" was a case of people having too much
>haplogroup-envy. So the defining rule was stretched. They were not
>satisfied with having a very robustly STR-identified clade. I think later a
>SNP came along so this J haplogroup is now a happy, orthodox haplogroup.
>But this is all a tempest in a teapot. Our understanding of the world is
>not much improved by definition games, although communication between
>investigators can be.
>I'm much more interested in the broader category of clades, although the
>convenience of SNPs as tags for one's clades is nothing to turn one's back
>To unsubscribe from the list, please send an email to
> with the word 'unsubscribe'
>without the quotes in the subject and the body of the message
Itzhak Epstein New York, NY
|[DNA] Haplogroups? Clades? Haplotypes? (was: What shall R1b1c callthemselves now?) by Itzhak Epstein <>|