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We have a few posts on the use of DNA in genetic genealogy, and we understand that all of the detail can be very confusing. Sometimes, getting your first (or second or third) report raises more questions than it answers. What does it mean that the report says you’re in the “Western Modal Haplotype” or the R1b1a1b1* haplogroup? Maybe you’re in R1b1a1b1* and U5a; and what does that mean?

Well, there is someone who can assist you in working through the details of your DNA results from a genetic genealogy test lab and helping you put them in context. That person is Roberta Estes and you can visit her site at DNA Explain.

Among other aspects of her work and background, she is researching the lost colonists of Roanoke through DNA analysis of descendants. So who knows what little gems of information are hiding away in your own DNA? Contact Ms. Estes and see.

Bonnie Prince Charles Edward

Since the trail of my Angus ancestors of Banffshire becomes murky after the 1790s, I had often puzzled as to whether they were mixed up in any of that Jacobite Rising nonsense. On the one hand, it seemed rather unlikely to me, since my grandfather was about as protestant and dour a Scot as ever lived. Since the Jacobite cause supported the restoration of a Catholic king with a “divine right of kings” policy, that didn’t line up with the grandfather’s dour protestantism in my mind. Of course, there could have been other reasons that a young Scot would have joined up with Bonnie Prince Charlie in 1745 besides, and perhaps in spite of, his religion. Maybe one would just have been thoroughly at odds with the English government. It was only 30 years after the second Jacobite Rising was lost in 1746, that the American Revolution was in full sway; and that was mainly English folk (granted, in the colonies) rebelling against English government.

Anyway, where to look to find information about this? I had looked to see if there were anyone with the surname “Angus” at the Battle of Culloden; and I had drawn a blank on that. However, my father had had me watch Peter Watkin’s film version of the battle when I was just a young lad. By that time, it was over 200 years gone; but he was still angry. After watching the film so was I; and maybe I still am. I wonder what that means? In sober and well-educated historical hindsight, I cannot credit the cause of the Jacobite and their “divine” kings, nor can I credit Bonnie Prince Charlie as a military tactician. Having said that, my grandfather’s name was Edward and I had an Uncle Charles and my own first son is Charles Edward Angus. There was no plan on my part to name him after the good old prince, I was just sticking with family names. But still… where to look for answers?

Well, I recently came across several volumes by Frances McDonnell that contain lists of convicted Jacobites from various parts of Scotland, Ireland, England, France and Spain. These volumes can be found through booksellers like Amazon, and also on Google Books. These books include Highland Jacobites, 1745; Jacobites of North East Scotland, 1715 and 1745; Jacobites of Perthshire, 1745; and Jacobites of Lowland Scotland, England, Ireland, France and Spain (1745). These are not historical accounts of the events; rather, they are simply lists of the names of individual men and women who were in some way associated with the Risings.

Here is an example from the volume on Jacobites of North East Scotland, the one I was most interested in:

Page on "Angus"

Interestingly enough, there are three “Angus” names on this page, though none of them are convincingly related to my Banffshire folks. However, there’s another curious feature to the list of names. My family tree includes the surnames, Day, Watson, Henry/Hendry, Dickie, Christie, and Milne. Each of these names occurs in this volume in the lists for 1745, including folk from Banffshire, except for “Day”. This name is in the 1715 list.

So, what I note about this list of names is that all my ancestors’ surnames are included here as Jacobites. Does this give absolute proof that any direct ancestor of mine was involved in the Rising of ’45? I don’t think I’d go that far. However, it does seem natural that generations of “rebels” would stick together after the events of ’45. It might take only an “Angus” brother speaking out in an alehouse in favor of another’s actions in the Rising for the stigma to be applied to the name. The same for any of these others in my list.

Admittedly, this isn’t incredibly convincing; however, it does provide a method of search. In other words, from the lists provided by McDonnell, now I have several names that I can attempt to draw my tree back to. You might try this yourself.

The Higland emigrants monument

If you are looking for a more “intimate” view of what life was like for your Scottish ancestors, whether they lived in the Highlands or the Lowlands, look no further than the Statistical Accounts of Scotland. While the Wikipedia article gives some background on their history, there is nothing quite like just starting to read these volumes.

With just an exception or two, one is unlikely to encounter one’s family by name unless you’ve descended from the landed nobility of Scotland. If you, like I, have descended instead from the lower classes, you will simply see your family recorded in various tables of servants or farmworkers or fishermen or what have you. Nonetheless, these volumes give an uncanny reckoning of the life of the people, back in the day. We learn, for example, that entire counties were held in the hands of a few, largely noble, landowners. Everyone else was either a tenant owing rent to the lord or simply a day-laborer owning little more than the clothes on their backs and possibly the tools of their trade.

As recently as 1834 (the year of the second Statistical Account), rents paid to various nobles are referred to as feu-duty, which was a form of ground rent on property. This term, feu, is a Scot’s form of the word, fee, going back as it does to notions of feudalism. What is perhaps even more amazing is that this form of rent to a lord was only abolished in Scotland in 2000.

Until 1832, the right to vote in the United Kingdom was extremely limited being vested only in landowners whose property was valued at over 40 shillings, this rule going back 400 years to 1432. In 1832, a Reform Act passed that allowed the vote to adult males who rented property over a given value at which point 1 in 7 men in the UK could vote. Before 1707, Scotland had its own parliament; but in that year, Scotland united with England and there was thereafter only a parliament of Great Britain. So, in the mid-1800s, only a relatively few male Scots had the vote, and their representatives attended a distant, and predominantly English, parliament.

The first Account was published around 1791, 45 years after the second Jacobite rising had been quelled. The economy of the shires was predominantly agricultural, almost feudal. Most of the parishes described in the Accounts of either 1791 or 1835 have a total population of less than 5,000. Outside of fishermen, some government officials, and the clergy, and the occasional alehouse or distillery, uniformly everyone else is engaged in agriculture. To some extent, one might even argue that the brewers and distillers are simply an extension of local agriculture, malting and fermenting the local barley. Movement out of one’s class position would have been nearly impossible unless one either left for a large city or decamped to America or Australia. However, the 1803 Passenger Vessels Act made the cost of leaving the UK £10 per person, which was prohibitive for any poor family. This amount is roughly equivalent to $2,000 at present. At the time, this would be roughly worth 4 or 5 years wages of unskilled labor.

The solution for anyone desiring to leave Scotland and didn’t have the equivalent of a few thousand dollars in today’s money was to become an indentured servant to a ship’s captain, on his way to America. Upon arrival, the captain would sell the indenture to anyone looking for servants. A typical price paid would be £15, the captain making a profit on the transport of the individuals. Such servants would receive no pay during the term of their indenture to their new effective owners, but would be housed, clothed and fed. In spite of the conditions of indenture, the Statistical Accounts for many parishes show a reduction in population by 1835 due to emigration in this way. This implies some Scot, male or female, finding their way to a port city like London, finding a ship on its way to America, signing an indenture to the captain, lasting the 6-month voyage, being effectively sold at auction upon landing, and then working out their indenture for 3 years or more. If this process was extensive enough to put a dint into the population growth of much of Scotland, one can only imagine that the conditions of remaining must have been seen by many as no better than the conditions of leaving. At least you were free after you’d worked off the instrument of indenture. Mind you, if you were a women who became pregnant during your term of indenture, you’d have another 2 years tagged on. About the only legal distinction between indenture and slavery was that indenture had a fixed term.

Another dynamic in this emigration was the Highland Clearances and the Lowland Clearances. My own family is from Banffshire way up in NE Scotland, and the parishes here appear to have been immune to much of these problems, at least until the predations of WWI and the influenza epidemic of 1918. Scottish casualties in WWI were double those of the English (20% versus 10%). The 1918 flu pandemic was a further tipping point. My grandfather’s family album showed many of his relations in uniform, lost at war. His first wife perished in the flu pandemic. My father was a child of my grandfather’s second wife; and they left Scotland in 1926, relatively late in a process that began nearly 300 years earlier.

The population of Scotland in 2001 was around 4,500,000. In the same year, the population of the United States that reported Scottish ancestry is over 9,400,000 while that of Canada was about 4,700,000 and that of Australia was 1,500,000. Considering that the total population of Canada is about 1/10th that of the US, the proportion of Scots there is much more significant. But the total population of the US, Canada and Australia with Scottish ancestry is over three times that of Scotland itself. Looking back over the Statistical Accounts of Scotland, and speaking as just one voice for those who left, it is hard to argue against the choices of our ancestors to come to America, Canada, or Australia (to the extent that they had a choice).

So, if you were writing a family history, and assuming that your Scottish ancestors left during any of these troubled times from about 1700 onwards, you will likely find valuable and detailed information about the geography, climate, economy, population, flora and fauna, and history of the part of Scotland that your ancestors came from. But don’t stop there. Read on, MacDuff, read about the neighboring parishes to get a broad sense of how this place worked back in the day. Then look up and around you, and consider the hardships they went through in order to get you to wherever you are now. And thank them.

Clans and Families of Ireland and Scotland

In this post, I offer a brief review of the book Clans and Families of Ireland and Scotland by C. Thomas Cairney, Ph.D. This volume is available for order at Amazon, and I assume other resellers. The book is subtitled, An Ethnography of the Gael A.D. 500-1750. You can also find it in its entirety online at Electric Scotland. The author has a family web site and may be contacted here.

I’m not sure how I first heard about this excellent book. It may have been at the Electric Scotland site at the link I posted in the previous paragraph. In any case, I quickly acquired my own copy; and I never cease looking up the surname of any friend or neighbor with an Irish or Scottish background. First, the book has a 25-page appendix of surnames with categories as to origin, and a 5-page index of surnames referenced throughout the volume. There are larger volumes of Scottish or Irish names; e.g., George F. Black’s The Surnames of Scotland, an 838-page compendium of virtually every name ever recorded in Scotland. However, where Black aims to be historically and linguistically accurate, including detailed references to the usage of a name in known records, Cairney’s method is almost “bardic”. He tells the tales about the history of the name. This is, to my way of thinking, what makes Cairney’s volume such an interesting read.

At some hard to establish point, Cairney’s family histories move off into family mythologies, and become entwined with the ancient folklore of Ireland and Scotland. For example, the chapter on the Érainn traces this ethnic group back to Óengus Bolg, the god of lightning, at least in a chart of tribal relationships. While this may be true within the context of Irish folklore, and while there may have been a historical Óengus Bolg who was later elevated to legendary proportions, the interpretation of the chart is left to the reader.

Part One of the book reviews the history of the Isles before the coming of the Gaels, Gaelic society and culture, and the Pictish society in Scotland before 500AD. Part Two reviews the ethnic backgrounds of five specific waves of invaders, with details as to their tribes or families and their more modern histories. These five waves include the Cruithne, Érainn, Laigin, Gaels, and the Vikings & Normans. As in the case of the Érainn, each of these ethnic groups is traced back to some mythic “god-made-flesh”. These are, in order, Conall Cearnach (male form of Brigid, mother-goddess), Óengus Bolg (god of lightning), Labraíd Loíngsech (king of the underworld), Conn Cétchathach (sun god), and Nerthus (mother-goddess of the Vikings and Norse).

For each of these waves, specific tribes and families are enumerated. The complete details are far too extensive to repeat here, but allow me to continue with the example of the Érainn. Among the tribes of the Érainn are the Clann Choinlgeagain or MacGilfoyles, chiefs around Shinrone. Also are the Conmhaicne Rein, of which the families are the MacRannalls, O’Cornyns, O’Farrells, O’Moledys, and O’Quins. Next come the Corca Dhuibhne with the families of the O’Connells and O’Sheas. The Corca Laoighdhe of County Cork include the O’Coffey, O’Dinneen, O’Driscoll, O’Flynn, O’Hea, O’Hennessy and O’Leary. The Corca Modhruadh were from County Clare and included as chief families the O’Connors, MacCurtins, O’Loghlans, O’Davorens and the Corca Thine or O’Cahills. The Dal Cairbre Arad were of Tipperary and Limerick and included the family, O’Dwyers. The Dal gCais from around County Clare include the O’Briens, MacConsidines, MacDonnells, MacLysaghts, MacMahons, O’Ahernes, O’Kennedys, O’Shanahans, O’Duracks, MacGraths, O’Fogartys, O’Galvins, O’Gradys, O’Hanrahans, O’Hickeys, O’Mearas, O’Molonys, O’Moroneys, O’Hartagans, O’Lonergans, Creaghs, O’Quins, MacNamaras, MacInerneys, O’Deas and O’Griffeys. The Deisi of around Waterford had as chief family the O’Phelans. The Partraige were from west of Connacht and their prime family is the O’Malleys. The Uaithni of County Galway have as lead family the O’Heffernans. The Ui Bairrche of South Wexford originally include the families of the O’Tracys and the MacGormans. The Ui Fidhgheinte from around Limerick originally include the O’Cullanes, O’Kinneallys, the O’Donavans and the MacEnerys. The Ulaid gave their name to Ulster. This group comprised three subgroups, the Dal bhFiatach of County Down, the Ui Duach and the Dal Riada. The Dal bhFiatach comprise the MacDonlevys, MacNultys, and MacNallys. The Dal Riada of Antrim moved to western Scotland between 300-500 A.D. to become the Dal Riada Scots, living in Argyll, meaning “coastland of the Gaels”. In Antrim, the primary family were O’Quins. In Argyll, the kindreds were the Cineal Loairn and the Cineal nGabrain. The families of the Cineal Loairn are the Campbells, MacGillivrays, MacInnesses, MacLeans, MacNaughtens, MacNabs, Clan Chattan (MacPherson, Davidson, MacBean/MacBain, Cattanach, MacKintosh, MacGillivray, MacIntyre, MacLean, MacQueen, MacAndrew, Farquharson), Camerons, MacGillonies, MacMartins, and MacSorleys. The Cineal nGabrain include the Fergusons, MacKerseys, MacFies, MacGregors, MacKinnons, and MacQuarries. The Osraighe include the Ui Duach and the MacGilpatricks of which the main families are the O’Brennans, and MacGilpatricks aka Fitzpatricks.

Now, even this précis of the chapter contains a long list of family names including, possibly, my own (MacInnes aka MacAngus aka Angus). Bringing all of these names back to original tribes within a common ethnic group is more than fascinating. By binding the mythology of the clan chiefs to a god-like founding father, Óengus Bolg, Cairney draws another connection in common across all of the Gaelic clans and families. This is perhaps the most valuable point in the entire book. Until the destruction of the clan system after the Jacobite uprising of 1745, the Gaelic tribes of Ireland and Scotland were largely an agrarian-pastoral economy. The cow was the unit of barter. Beginning in 1641, there was an uprising in Ireland, and civil wars in Scotland and England. that lead to the execution of Charles I and the exile of his son Charles II. These conflicts pitted monarchists and landed aristocrats and Catholics, on the one hand, against Protestants, Republicans, and a new monied class on the other. While the Gaels in Scotland and Ireland originally opposed Charles I, many of them subsequently allied themselves with the restoration of the Jacobite Kings in 1715 and 1745. After abuses during the English Republic under Cromwell, Charles II was restored in 1660. Charles was a Catholic and was succeeded by his Catholic son, James II, in 1685. By this time, the mood in England and shifted toward the new monied economy and against another Catholic king. William and Mary were invited in as Protestant monarchs, and James II was the last Catholic king of England. With the assistance of France, James II attempted to regain the throne in 1689 and again in 1715. The movement to bring James II and his heirs back to the throne of England became known as Jacobitism. James’ II famous son, Bonny Prince Charlie, attempted to regain the throne again in 1745. Many of the highland clans joined with Prince Charlie in the rebellion with an “epic fail” as the result.

The period from 1650 to 1715 was an amazing time. It was just after the Age of Discovery. New lands were known to the European powers, and they were being exploited. Sea faring powers were now less interested in journeys of exploration as they were in journeys of exploitation. These journeys, from London to Djakarta to Jamestown to Johannesburg, couldn’t be financed with cattle. New means of finance, including modern financial derivatives, were being created. While it would take me too far afield to even scratch the surface here, allow me to also recommend the Baroque Cycle by Neal Stephenson to anyone interested in exploring these times through the historical novel. The sequence of books spans the period from the Restoration just up to the first Jacobite Rising.

However, Cairney does not associate the destruction of Gaelic heroic culture with the defeat of the Jacobite cause at Culloden in 1746. Cairney draws a parallel between this Gaelic heroic culture, the association of Gaelic tribal leaders with god-like ancestors, and the Jacobite-Cavalier model of the divine right of kings. Instead, Cairney proposes that 1746 is just a mid-point in the destruction of Gaelic culture, the ultimate overthrow of which was economic; it was the replacement of an agrarian barter economy by a money-based economy centered in the English midlands. Cairney looks to the US Civil War 1861-5 as the final conflict. He observes that Robert E. Lee was the son of ‘Henry Light Horse Harry’ Lee, himself a “fourth-generation scion of a Cavalier family”, and that the Carolinas received the bulk of Highland emigration after 1745 (at least south of Canada). In the US Civil War, the agrarian economy and Cavalier culture of the south was pitted against the industrial economy and Protestant culture of the north with the known outcome. On the one hand, these ancient Gaelic values are among the best of the culture of Ireland and Scotland. On the other hand, to the extent that they were allied with protectionism for a doomed economic and political system (local agrarian barter and the divine right of kings), they were bound to be lost in the mêlée.

Cairney associates this traditional Gaelic hero culture with tales like Y Gododdin and Beowulf. These heroes are at once great men-at-arms, educated, bilingual, mystical, artistic, romantic, gifted with magical weapons. Of course, this is but mythology, but a powerful mythology; but one that fails to pass away. We see it again in things as diverse as the film version of Beowulf and in the values-based political platforms of politicians such as Rick Santorum. It appears in the roles of Liam Neeson as Rob Roy MacGregor and Mel Gibson as Robert the Bruce. These gentlemen have Scottish/Irish backgrounds. We see it again in the character of Jamie Fraser in Diana Gabaldon’s Outlander Series, another set of historical novels set around the time of the second Jacobite rising, if with some romantic and artificial plot twists.

So, I believe that there is much more here in Cairney’s book than might superficially meet the eye. There is more to this slim volume than just the genealogy of Gaelic surnames from Ireland and Scotland. There is a companion analysis of the place of the Irish and Scots in history, not just in Great Britain, but also in the US and Canada. At a paperback price of about $20, Cairney’s volume is well worth the price of admission in my opinion.

Forensic Genealogy

In this post, I’m going to do a review of the book, Forensic Genealogy, by Colleen Fitzpatrick, Ph.D., published in 2005 by Rice Book Press. The volume has three major sections entitled The Digital Detective, The Database Detective, and The DNA Detective. As ties in with the book’s title, each section involves the use of some special techniques to resolve some question of genealogical research.

The Digital Detective section explores the analysis of old photographs, such as anyone might have in their family records, in order to uncover where and when they were taken, who they were of, and why they were taken and kept. The detailed methods that Dr. Fitzpatrick uses to date and place images are quite fascinating. They include a study of particular objects in the photograph, such as cash registers, bottle labels, hats, photograph technology, and other incidentals. By analyzing the time frames associated with such incidental objects, she shows us how images can be dated, and often also placed. Through the use of any other knowledge, such as the rough location of the image, other factors such as shadow direction and length, can be employed to date and time images. The work, as she states up front, is exactly the sort of forensic analysis as one might expect a “real” detective to use in solving a crime, which is nothing more or less than a special sort of event. By extending the model of forensic analysis to include the events recorded in family photos, Dr. Fitzpatrick takes to model to a natural and logical extension.

A detailed case study reviews a photograph taken, by her detective work, in the Canadian Pacific Railyards in Winnipeg Manitoba Canada on September 12, 1910 between 12:16 and 12:50 pm. The analysis of the image and its case involves 12 pages of detective work, much of which is also included on a CD that comes with the book.

In The Database Detective, Dr. Fitzpatrick discusses the use of some of the more obvious database as well as many not so obvious ones. For example, Ancestry.com, FamilyTreeMaker.com, and FamilySearch.org are among the obvious databases. On the other hand, census records, city directories, orphanages and insane asylums are starting to put their records online. As well, one can make their own searchable databases of information on people that one is researching. While there are several commonly used programs, such as Access or Excel, for this, as an aside my own personal favorite is DEVONthink Pro. What I like about DEVONthink is that it is so much more “free-form” than the typical database. One can store just about any sort of record in DEVONthink database and the results become searchable.

Dr. Fitzpatrick points out that there are two kinds of databases of people: first are periodical databases, like census records or city directories, that are published on a regular basis such as quarterly or every four years; second are event databases, like birth or death records, that are updated on an ongoing basis as the corresponding events continue to occur. It would be likely to find someone in several census records, but not likely to find someone appearing more than once in a record of births or deaths. The chapter continues with analyses of several families in terms of finding records in city directories and in birth and death records. There is another case study of a single family from Germany that had fled to France in the 1600s after the Thirty Years War. Through research of records in the Alsace region of France, an amazing story emerges of an entire town that appears to have “imploded” due to a crop blight of ergot; but through which the family under study managed to escape unscathed. It is a great story.

In The DNA Detective, Dr. Fitzpatrick first explains much of the material on the uses of Y-DNA and mtDNA to study paternal and maternal lineage. To begin, Dr. Fitzpatrick goes over much of the same material that I have on both Y-DNA and mtDNA in previous posts. She proceeds to review testing companies, their pricing, and databases. Unfortunately, because the book was published in 2005, a good deal of the material here is dated. She also discusses the merits of surname projects in the context of DNA testing, and how valuable these can be. By inviting anyone with a common surname to contribute their DNA profiles into the project database, a valuable body of data can be obtained at minimal cost to the project itself. The topics then proceed to the construction of cladograms for family studies. A clade is, in this context, some ancestor and all of his or her descendants (and no one else). By organizing the DNA structures of the various participants in a family study along the lines of minimum genetic differences between pairs of individuals, a diagram can be created that clusters groups of people within the study into sets that have the most in common with one another. Such a diagram is called a cladogram; and by seeing how these cluster branch away from one another, the diagram can show much about the ancestral backgrounds within the family.

The volume contains software for the creation of cladograms on the CD that accompanies the book. However, the latest version of the software (called Network) is available online here. Allow me to point out here that one should be very serious about proceeding with the use of this software, since the detailed options and calculations are not for the faint of heart. Having said that, I can say that I have personally used this package in a couple of family studies, notably for Y-DNA data from Clan Macinnes of which I am a member. The results were, in my opinion, extremely useful. In Dr. Fitzpatrick’s exposition, she uses data from her own family research on the Fitzpatricks. While the family history that she reviews falls into that British and Celtic background that I’ve mentioned before for my Angus ancestors, there is nothing that limits the use of cladograms for the analysis of a surname DNA project to this sort of background.

Purely for an instructive approach as to how to apply the Network program to Y-DNA or mtDNA data from a family study, this section is well worth the price of admission. The software manual itself, while instructive, doesn’t provide the level of detail that someone would need to begin data analysis properly on their own.

I heartily recommend this volume to anyone interested in starting a DNA-based family study just for this part of the book alone. While other aspects of genetic genealogy, such as the uses of autosomal DNA, have advanced, the construction of cladograms remains stable enough that Dr. Fitzpatrick’s instructions are still timely.

Finally, Dr. Fitzpatrick has her own web site and another at IdentiFinders, which is based on the DNA detective work that she has done. These are both useful sources for information about projects in forensic genealogy and DNA research.

As we’ve mentioned before, we humans have chromosomal DNA in the nuclei of all of our cells. The expression of this DNA defines who we are physically. As well, we have organelles in our cells called mitochondria, which also carries its own unique DNA, mtDNA, in the form of a loop. The mitochondria is the physical engine of cell metabolism. Back to the chromosomal DNA… in humans, this consists of 23 pairs of chromosomes. Of these, 22 pairs are autosomes, meaning that they have nothing to do with the sexual characteristics of the individual. One pair are allosomes, meaning that they do express the sexual characteristics of the individual. In women, there are two X-chromosomes. In males, there are one X-chromosome and one Y-chromosome.

So, genetic genealogy, as we’ve discussed it thus far either focuses on the male allosome for tracing a paternal line or the mitochondria for tracing the maternal line. There is a good deal more DNA available for testing; namely, the 22 pairs of autosomes.

As is common knowledge by now, we acquire half of these autosomes from our mothers and half from our fathers; and the same will be true for each of them. Since our mothers will have some of her DNA from her father, and he from his mother, and she from her father, and so on, our autosomal DNA is much more of a blend than is the case with either Y-DNA or mtDNA. Since our living cousins will have had a very similar blend of autosomal DNA transmission as we have received, the opportunity rises for using tests on autosomal DNA to prove up near-term family relationships that cannot be discovered with either Y-DNA or mtDNA testing.

For some time, autosomal DNA testing has been used commercially to provide the service of informing an individual of his or her geographic or racial origins. A standard test might report something like an individual being 1/8th Asian and the rest European, or 1/16th Native American, 1/8th African and the rest European, and so on. These tests are accomplished by checking for markers that are indicative these races.

Once more, in the interests of full disclosure, here are the results of my ancestral background from FamilyTreeDNA.

Personal ancestral background from autosomal testing

Since, if you’ve been reading my previous posts, you’ll recall that my more recent background is Scottish on one side and German-Russian on the other, provably back into the 1700s, this map might seem somewhat odd. However, at a deeper level, this map traces both of these genetic backgrounds to what is, at least currently, believed to be the geographic origins of those two sides, to Ice Age refuges of the peoples of Western and Central Europe, going back thousands of years. This sort of presentation is representative of the standard use of autosomal DNA testing, as I’ve said.

But, there’s a different approach to using the tests that, like other tests, involve matching against the results of other living persons, rather than hypotheses about ancient, racial origins. In the case of FamilyTreeDNA, this is called “Family Finder”. This quite amazing service can be used in a number of different ways, either as a stand-alone search tool, or together with Y-DNA or mtDNA to create mixed searches.

Here is a screen shot of one variant called the “Chromosome Browser.”

Chromosome Browser at FTDNA

You’ll see on the right diagrams of the 22 autosomes with color-coded regions that correspond to those areas in which my DNA has been tested to match the two individuals that I’ve selected on the left. On the lower left, I’ve configured the search to show me matches that have shown up since my last login. There are 6 already, and I used this service quite recently. This shows how quickly new participants are taking part in this service. I have picked out two folks with Germanic surnames. One of the names, Geiger, is known to me to have been in the same German-Russian enclave as my Wilhelm ancestors. To find a match with this surname is not surprising. By the way, to provide the other individuals whose names appear on the list, I’ve blurred out all but their surnames.

At the top left are the two individuals that I’ve selected and a setting to show regions that match at a 1 centimorgan level. This brings us to “what’s a centimorgan?” You can think of this as a span of positions along a chromosome that is likely to recombine in one generation at a 1% level or less. For we humans, this corresponds to about 1,000,000 base pairs. The information from the chromosome browser can also be viewed as a table. Here is an example:

Tabular detail for chromosome browser match

You can see that there are some extensive matches between myself and this person. In one span, of about 11 centimorgans, they and I match as many as 2,600 SNPs. Recall that a SNP is a single nucleotide polymorphism which represents the substitution of one nucleotide for another at some specified location on a DNA strand.

The Family Finder can also be used to present matches at various levels. In the following screen shot, I show a single individual whom I match as a “speculative relative”, someone with the surname, McLean. A relationship of 5th cousin is proposed.

Speculative match from Family Finder

In order to preserve this individual’s anonymity, I’ve blurred out some of the information that pops up. However, by clicking on their profile, I discover that one of their ancestral surnames is “Anhaus” from South Carolina. Interestingly enough, the Carolinas were a region to which many Scottish indentured servants were sent in the early years of the Americas. Anhaus is close enough to Angus to represent some possible match. This would be pure speculation without further investigation, but I guess that’s why the relationship is “speculative.” If I were interested in following up this speculation, I can check into the Anhaus family of South Carolina. In doing that, I find that the family likely came from Baden-Württemburg in Germany, which may mean the connection could be on my G-R rather than my Scottish side; or, who knows, some of both.

I personally believe that this Family Finder service at FTDNA is one of their most valuable features. It has only become available over the past year; but every time I log into my account, I find new and closer matches. By merging Y-DNA, mtDNA and autosomal DNA matching, this service brings together all of the possible test methods to prove up a relationship between two individuals, or family groups. If you had located some possible ancestor who might be on your family tree, and who had known living descendants, then establishing the relationship could be accomplished by testing your and their DNA using the FTDNA service.

Considering what I had mentioned earlier, about the low resolution of basic mtDNA testing, you may find it much more useful to focus on an autosomal test to prove a maternal relationship, or to augment an mtDNA match. For example, if you were investigating, say, whether some other individual and you shared a common maternal great-grandmother, you could do an mtDNA match; but even if you test both HVR1 & HVR2, there is still a large population of others whom you could match. On the other hand, this relationship of being second cousins would be demonstrated by large blocks of common autosomal DNA. So, proving or disproving such a relationship is really an easy matter.

While FTDNA doesn’t sequence your entire genome for their services, they do provide you with all of the data that they have obtained; and you can download that for your own records, should you desire. Beware of large files!

In summary, autosomal DNA testing represents a relatively new and increasingly valuable service. As I’ve mentioned before, I heartily recommend using Family Tree DNA as a test lab for exploring this area in your own researches.

Good luck!

Whatever the actual origin of the mitochondria and its DNA, it exists within every cell including the male sperm cells, where the mitochondria exists at the base of the tail or flagella, and in the female egg. However, during the process of fertilization, the mitochondria from the sperm cell does not enter the egg, which has its mitochondria from the mother. This is simply because the egg cells were actually part of the mother at the time of her birth, having developed in utero. By extension, the egg cell of the mother’s mother were developed when she was in utero and received from her mother, and so on back in time. As the newly fertilized egg divides repeatedly during the development of the growing fetus, each cell copy receives its mitochondria and its mtDNA by a process of replication from that of the original unfertilized egg cell.

While this process is intellectually fascinating in its own right, the focus in this post is on the testing of mtDNA for genealogy; and as we mentioned in an earlier post, the interest in mtDNA is due to this property of transmission along a matrilineal descent. It is not that males do not have their mtDNA from their mothers; they do. But a male cannot transmit his mtDNA to either son or daughter since that within his sperm is discarded at the outer wall of the egg.

Well, that’s one theory anyway. It is the theory that you will find in most stories on the value of mtDNA for genealogy. Unfortunately, it is not the whole story, as this Wikipedia article on paternal mtDNA transmission tells. Here the story unfolds that mtDNA from the sperm can and does enter the egg, although in significantly smaller proportions to that contained there from the mother. There is also evidence that some individuals can wind up with a mosaic of mtDNA in different parts of their tissue; say, most from their mother but a scattering from their father. And so on. Hence, the story of mtDNA remains incomplete.

However, since the crux of the matter is the source of mtDNA in the egg cell from which any daughter will develop upon fertilization, the question is whether or not the transmission of maternal mtDNA is “a lock”. I mean, we don’t develop from our mother’s muscle tissue, after all. Even a 1:1,000,000 chance could disturb some scientific theories in this regard, although that would probably not overturn the value of mtDNA for genealogy. However, there is practically no information available on the likelihood of paternal mtDNA transmission in humans outside of some references to what might be termed freak cases.

A related issue is whether or not maternal and paternal mtDNA might recombine in some way during fertilization; that is, whether mtDNA in the fetus might in some way mix the mtDNA of both parents. This is also a controversial statement at present with few scientific results in its favor in in vivo human cases, which is to say, in real life. This too would overturn an apple cart or two.

For the time being, I’m going to ignore some of these potential cracks in the theory, and continue to tell the story as you will find it in most of the literature. I’ll come back to what this might mean for your researches at the end of the post.

One of the primary foci for study of mtDNA are two so-called hypervariable regions in the control region or “D loop”. Consider the image below:

mitochondrial DNA

The control region is shown at the top center position of the circle. Within it are two hypervariable regions called HVR1 & HVR2, simply enough. HVR1 spans base pair locations numbered from 16001 to 16568. HVR2 spans locations 001-574. HVR1 is considered to have low resolution, while HVR2 has high resolution, meaning just that the nucleotides in HVR1 mutate less often.

The mechanism of mutation in the control region is single nucleotide polymorphism, just as we considered previously in Y-DNA studies. So, what we will be looking at will be substitutions of one nucleotide for another, say, C by T. Just in the same way as we considered haplogroups that arise because of these SNP mutations in the Y-chromosome, we’ll also be considering female haplogroups associated with specific SNPs in mtDNA.

In 1981, researchers at Cambridge University sequenced the entire mitochondrial genome of a human donor, showing it to have 16,569 base pairs and 37 genes. This mtDNA sequence has become known as the Cambridge Reference Sequence (CRS). Some errors were discovered in the original publication and a revised CRS or rCRS was published. Now, most mtDNA results are expressed in terms of differences between the individual being tested and the rCRS. Again, in the interests of providing examples, here are my results for HVR1 & HVR2, given with respect to the rCRS from Family Tree DNA.

Results of mtDNA tests on HVR1 & HVR2

So, the rCRS has adenine (A) at position 16066 and I have guanine (G), and so on. All of this data goes to show that I am in the U5a mtDNA haplogroup. This is presumably also true of my mother, my grandmother, my aunts, my sisters, my sisters’ children, my first cousins on my mother’s side, and et cetera. Should there be some question about such a maternal relationship between myself and some other person, then a match for this mtDNA pattern could go a long way in proving the relationship, or disproving it if a match failed.

Just as in the case of Y-DNA haplogroups, mtDNA haplogroups have been carefully analyzed. And just as Bryan Sykes wrote a popular version of the analysis of Y-DNA haplotypes in the history of Britain, he also wrote a similar book on mtDNA haplogroups and the populations of Europe titled The Seven Daughters of Eve, and subtitled The science that reveals our genetic ancestry. In that book, Sykes considers seven major mtDNA haplogroups, gives them names instead of initials, and places them in their own ancestral “Gardens of Eden”. So, Ursula is in Greece 45,000 years ago. Xenia is in the Caucasus 17,000 years ago. Jasmine is in the middle East 10,000 years ago. Katrine is in Italy near what is now Venice 15,000 years ago. Tara is on the western coast of Italy 17,000 years ago. Helena is in France 20,000 years ago. Velda is in Spain 17,000 years ago. These are the seven daughters of mtDNA-Eve. Of course, this is all quite romantic; and worth the read. I recommend the book.

However, as in the case of the basic Y-DNA haplotypes that may be revealed with a 12 STR panel test, many people begin with the mtDNA test for HVR1 and learn little more than they are in one of these basic mtDNA haplogroups, which originated anywhere from 10,000 to 45,000 years ago. By now, you’ll have lots of relatives.

Including an HVR2 test will provide much more resolving power than just doing HRV1. That’s the good news. The bad news is that relatively few people have tested HVR2 and published their results. In the same way that FTDNA has put a large database of Y-DNA results online at ysearch.org, they have also posted results of mtDNA tests at Mitosearch. However, the size of the database and its “resolving power” is much more limited. In part to augment the limitations of just testing HVR1 and HVR2, it has become possible to test the entire mtDNA sequence. Together with HVR1 and HVR2, such a “mega” test covers all base pairs from 00001 to 16569 inclusive, not just the 500 – 600 or so pairs that tie together to form the D-loop. By the way, it’s called this since it forms a sort of “D” shape with three strands of DNA in this area.

This is a some good some bad proposition. The good side is that you are more likely to find high quality matches in the future. The bad news is that this entire region includes some coding DNA elements in which certain mutations are associated with genetically transmitted disease. So, in publishing such information about yourself, you can run the risk that some health insurance organization might declare you a risk and deny you coverage for the problem. This is a problem in the US where the health care system is designed around private insurers finding ways to deny coverage to their clients, IMHO. It’s less of a problem elsewhere in the developed world. For such reasons, testing labs like Family Tree DNA provide secure methods of matching your full mtDNA sequence to other users without making the results public. You can go ahead and make your mtDNA sequence public; but this is not required in order to find matches. Publicly sharing your HVR1 and HVR2 tests do not have this stigma since they are not coding DNA.

Here is a chart showing parts of the mtDNA loop that are associated with genetic disease:

So, unless you do at least and HVR2 test, and possibly a complete mtDNA mega-test, your results will provide you with little resolution in discovering your relatives. Even if you do a complete mega-test, as I have done, you’re not likely to obtain much immediate value from your results until others follow suit. If you have the money to do this test, and if you’re interested in tracking these results, then I recommend doing the full mtDNA sequence test and being patient. However, unlike Y-DNA testing, do not expect a rapid return on your investment. In subsequent posts, I’ll talk about bang for your buck in testing.

Earlier, I made a reference to an mtDNA-Eve. This idea is consistent with what’s called the “Recent single origin of humans” theory. The essence of the idea is that modern Homo sapiens evolved in Africa and eventually spread out over the world from there. A completely contradictory model would be that modern humans evolved uniformly from previous species all over the planet, arguably into different races. This last theory has been discredited, but more recently a middle ground has been proposed, based on very recent evidence. This theory argues that modern humans of African origin interbred with Neanderthals in Europe and with the recently discovered Denisovans in Asia. These hypotheses are consistent with, among other things, tests of mtDNA and autosomal DNA from modern humans, Neanderthal remains and Denisovan remains. However, they are not conclusive within the scientific community. This is to be expected since the first Denisova hominin was discovered only in 2010.

So, in the mtDNA-Eve theory, all living humans have their mtDNA from this single woman and along the way, there have been certain mutations that have accumulated leading to new haplogroups. In this competing model, there is an allowance that some modern Europeans have mtDNA in part from Neanderthal admixture and some Melanesians and Asians have mtDNA in part from Denisovan admixture. From the point of view of using mtDNA sequencing for genealogical research, the truth or falsehood of either theory is really irrelevant. The events in question date back tens of thousands of years; and they wouldn’t make a difference to whether some living person is a cousin on your mother’s side as might be proven by an mtDNA test.

To summarize, mtDNA testing is the standard approach to tracing your matrilineal ancestors, and therefore, identifying relationships with living persons who have the same descent. Along the way, you may also find some interesting, if “romantic” information about the very ancient history of your ancestors going back tens of thousands of years.

Good luck!