mtDNA

Disclaimer:  I am by no means an expert on any of this.   I'm just lay person trying to make sense of it all.

Last update:  03/20/2009

For no particularly good reason other than curiosity, I had my mtDNA Full Sequence tested by www.familytreedna.com. I initially just had the mtDNA Plus test performed, but recently took advantage of a discount FTDNA offered on a Full Sequence upgrade.    My  results are below:

Mama Helena

The H1a above actually represents a branch of the broader haplogroup simply known as "H," a predominantly European haplogroup.  There's no surprise there as my maternal grandmother was of German ethnicity.   In Bryan Sykes book The Seven Daughters of Eve, he named the single maternal ancestor of haplogroup H (aka clan mother)  "Helena."   So ultimately all of us who are in haplogroup H descend from Helena who is believed to have lived about 20,000 years ago in what is now south central France.

Below are explanations of Haplogroup H and my branches from the Family Tree DNA website. 

H - Mitochondrial haplogroup H is a predominantly European haplogroup that participated in a population expansion beginning approximately 20,000 years ago. Today, about 40% of all mitochondrial lineages in Europe are classified as haplogroup H. It is rather uniformly distributed throughout Europe suggesting a major role in the peopling of Europe, and descendant lineages of the original haplogroup H appear in the Near East as a result of migration.

H1 – H1 is the most common branch of haplogroup H. It represents 30% of people in haplogroup H, and 46% of the maternal lineages in Iberia. 13-14% of all Europeans belong to this branch, and H1 is about 13,000 years old.

H1a - H1a is a branch of H1. Further research will better resolve the distribution and historical characteristics of this haplogroup.

My maternal grandmother's line was  Danube Swabian (Germans who settled in Hungary).  The furthest back I can go in this line is my third great grandmother, Elizabeth Scheidl, born about 1830 who lived in Herczegfalva, Hungary.  Other surnames besides Scheidl in my maternal line are Czimmer, Wurst and Schneider. 

mtDNA Matches

When I first posted this webpage a few years ago, I had 21 exact low resolution (HVR1) matches.  Today (July 2008), I have 122.  Family Tree DNA gives the following insight into the meaning of these matches which effectively renders them of little consequence:

A low resolution match occurs when two individuals have exactly the same sequence in the HVR1. As long as they are in the same haplogroup, these two individuals very likely share a common ancestor at some point on the maternal line. A low resolution match has about a 50% chance of sharing a common ancestor within the last 52 generations (about 1300 years).

Also back when I first created this webpage, I had no exact high resolution (HVR2) matches.  Today I have seven. Family Tree DNA says the following about these matches. 

A high resolution match occurs when two individuals have exactly the same sequence in both the HVR1 and HVR2. High resolution matches are the ones which are more likely to be related within a genealogical time frame. A high resolution match has about a 50% chance of sharing a common ancestor within the last 28 generations (about 700 years).

While 700 years is drastically more helpful than 1300 years, a match in this timeframe is still not particularly helpful from a genealogy standpoint.  How many people have their straight maternal lines back to the 1300s?   Royalty maybe.  

And if that's not problematic enough, read on....

Full Sequence Results

Making my particular situation even worse are the results of the Full Sequence test.   This is the most refined and "final" mtDNA test.  It gives you the best granularity possible on your mitochondrial roots.   What most people will see in their results are "private mutations" which can help further define branches of your haplogroup.  In my apparent quest to be as generic as possible, I have no private mutations at all.   My mtDNA is plain vanilla H1a with no mutations having taken place in the past 6000 years or so since the H1a clan mother lived.   (That assumes there were no mutations that took place and then reversed themselves with yet another mutation.)   

While it's interesting that my mtDNA appears unchanged for thousands of years, that is definitely not helpful from a genealogy standpoint.   How many branches might there be off of the H1a clan mother where mutations did not take place?   Based on my scant knowledge, there's no way of knowing.    The bottom line here is these results will likely never help me identify random, nearer term, distant cousins.   Bummer.  

I should add here that many people warn that you not should disclose your Full Sequence results as there could be medical implications divulged with your private mutations.   Since I have none of those, that's obviously not an issue.

Many thanks to Dr. Ann Turner who did a custom report for me explaining my Full Sequence results.  I highly recommend making the small investment in getting one of these reports if you're not an expert yourself.  Googling her name will turn up her e-mail address if you wish to contact her about getting a report. 

Haplogroup H - Do we have superhuman infection-fighting powers?

A rather interesting aspect of Haplogroup H that has come to light in the past couple of years is that people in this haplogroup appear to be better equipped at fighting off severe infection perhaps explaining how, despite being a relatively new haplogroup, it has become so prevalent today.   Below is a good "English" explanation of the findings, but I've seen these refuted also. 

http://genome.wellcome.ac.uk/doc_WTX042228.html

Advantage in adversity

It is now well established that defects in mitochondrial DNA underlie a range of diseases. But can variation in mitochondrial DNA do its owner any good? Work published by the Newcastle team in 2005 suggested that it can.¹ One particular set of polymorphisms – or variations – in mitochondrial DNA appears to help people survive serious infection.

The study involved 150 patients who had been sent to intensive care because they had severe sepsis. When they were followed up over six months, those with a particular 'haplogroup' – a set of small variations in mitochondrial DNA inherited together – were more than twice as likely to survive their infection as the rest of the population.

Haplogroup H, which enhanced survival, is the most common type in Europe. It appeared relatively recently, evolutionarily speaking, but has spread quickly – perhaps because it makes people more resistant to infection. This fits with the fact that the multiple organ failure associated with severe sepsis seems to tie in with poor use of cellular oxygen.

It also turned out that patients with haplogroup H managed to raise their body temperature higher than other patients, which may also have helped the body to fight off infection.

The finding could help to identify patients – the ones without group H mitochondria – who may need extra support in intensive care. The first step is to check that it is repeated in a new group of patients, and that follow-up study is now well under way.

Reference

1 Baudouin SV et al. Mitochondrial DNA and survival after sepsis: a prospective study.
Lancet 2005;366(9503):2118–21

Helpful Links

Wikipedia explains haplogroups

The Haplogroup H Project

Mitosearch.org - a public database for mtDNA Results (enter your results here)

Submitting your Full Sequence results to GenBank

mtDNA Haplogroup Distribution Pie Chart

NOVA - Tracing Ancestry with mtDNA