Genetic Genealogy

DNA analysis is an important new scientific tool increasingly being used by genealogists as an aid to research. DNA testing is not a replacement for traditional documentary research, but can be used in conjunction with the paper records. A DNA test can determine whether two people share a common ancestor within a certain number of generations. DNA can thereby validate (or disprove) genealogical theories about a family's lineage and ancestry. Testing can also provide information beyond the documented record trail, by connecting people having the same surname who have no proven historical link.

The Y-Chromosome (yDNA)

The Y-chromosome, whose principal role in man's body is to create sperm (and its requisite reproductive plumbing), provides the most widely-used application of genetics in genealogy. Passed from father to son, the Y-chromosomal DNA, referred to as "yDNA", remains virtually unchanged from generation to generation.

Analyzing the Y-chromosome of a living male representative on a given paternal line reveals information about each of the preceding male ancestors in that surname lineage (paternal clan), and assists with the identification of shared ancestry, or the verification of existing "paper-trail" genealogies.

The gene type of the Y-chromosome is one of the major genetic markers distinguishing the paternal lines of the human race, linking from father-to-son back 50,000 years to a single African man, designated "Y-chromosomal Adam" -- our most recent common male ancestor.


Major ethnic/racial branches of the human genome

Modern men carry a Y-chromosome whose genes are 99.9% identical to those of this African paternal progenitor. Minor mutations occurring every few generations give rise to branches which distinguish the various human races and tribal groups, and can be used to identify the patrilineage of clans or families within modern (genealogical) time-frames.


Main genetic branches arising from the "Y-chromosome Adam" ancestor

The Y-chromosome inherited by male children from their father is invaluable for genealogical research, since it typically follows a paternal surname line.

The Populating of Europe

Europe has been colonized three times in the distant past, always from the south. Some 45,000 years ago the first modern humans entered Europe from Africa, mainly via Egypt and the Middle East. The glaciers returned around 20,000 years ago, forcing early Europeans to migrate south into warmer "glacial refuge" areas around the Mediterranean Sea.

A second colonization occurred about 17,000 years ago, at the end of the last Ice Age, as tribes of Palaeolithic (early Stone Age) hunter-gatherers migrated northwards, returning from their Mediterranean refuges. The third migration was that of Neolithic farmers introducing new agricultural technologies from the Near East around 10,000 years ago, marked genetically by an increased lactose tolerance in adults which contributed to the survival of Stone Age cattle-herding societies.


Megalithic populations of Europe

Analysis of the mitochondrial DNA of modern European populations shows that over 80% are descended in the female line from Paleolithic hunter-gatherers. Less than 20% are matrilineally descended from the migrations of Neolithic farmers from the Middle East, and the percentage in Britain is even smaller at around 11%.

After the last great Ice Age, the British Isles were first re-populated by Paleolithic hunter-gatherers living mainly in coastal camp-sites, few of which were permanently inhabited. During the late Stone Age period (5000-2000 BC), the nomadic Neolithic population was gradually inter-mixed with, then largely replaced by settled farming communities.

Later immigrations accompanied the transitions to bronze and iron-working, known respectively as the Bronze Age (2000-1000 BC) and the Iron Age (1000-50 BC). Traders, craftsmen and settlers of the prehistoric "Bell-Beaker" culture arrived in Britain from western Europe around 2500 BC, bringing horses, bronze, mead and beer!


Bronze-Age European cultures of 2000 BC

The subsequent introduction of iron-working technology was particularly significant because it is associated with "Celtic" cultures of the Iron Age, widespread on continental Europe and throughout the islands of Britain by 1000 BC. They developed a sophisticated calendar, crafted intricate ornaments of silver and gold, and discovered how to smelt iron alloys for weapons, armour and tools.


Iron-Age European cultures of 1000 BC

By the 1st century AD, the Neolithic Celtic culture had diversified into the Gaels, Welsh and Bretons who inhabited the British Isles during medieval times.

The male population of Europe now contains around a dozen main Y-chromosome gene types (paternal clans), called haplogroups. There are many different naming systems and scientific definitions used for yDNA haplogroups, which can make things very confusing!


Distribution of yDNA haplogroups in modern Europe

Genealogy of the British Isles

According to extensive research conducted by pioneering geneticist Professor Bryan Sykes of Oxford University, over 80% of the present-day gene pool in the British Isles is descended from Stone Age hunter-gatherer families, who immigrated from the Atlantic seaboard of Portugal, Spain and France in primitive boats. These ancient mariners were of Mediterranean origins, spoke an Indo-European language, and are defined genetically as having "Iberian Celtic" ethnicity.

Men in the British Isles fall into one of five main yDNA groups: "R1b", "R1a", "E3b", "I2b" and "I1". Geneticists have recently renamed these haplogroups, after their most significant mutation points, as "M343", "M17", "M215", "M284" and "M170". These branches of the Y-chromosome tree roughly correspond to the ethnic groups identified historically as Celtic, Viking, Roman, Gaelic-Pict and Anglo-Saxon.


Distribution of yDNA Haplogroups through England and Wales

The majority of Y-chromosomes in the UK have been inherited from the sea-faring Stone Age hunter-gatherers who spread along the Atlantic coast of Europe. Around 65% of modern English, 70% of Scots, 85% of Irish, and 90% of Welsh men have a Y-chromosome of the "R1b-M343" gene type. In other words, most modern British males are loaded with almost identical man-genes as those carried by Megalithic settlers arriving over 5,000 years ago!

Major Haplogroups of the British Isles
yDna Type Mutations Ethnicity UK
R1bM343, M222Celtic75%
I1aM170Anglo-Saxon14%
R1aM17, M198Scandinavian5%
I2bM284Mesolithic3%
E3b (E1b1b)M215Roman2%

About 15% of British male yDNA is descended from the Germanic raiders, traders and settlers who sailed to Britain from Saxony, Denmark and France. Their basic yDNA is classified as "I1a-M170" with a number of regional variations (mutations). There are also small but significant genetic remnants of the prehistoric "indigenous" Britons who built Stonehenge during Mesolithic times, plus reminders of the numerous Viking invasions from Scandinavia (R1a-M17), and faint traces of the Roman auxiliary soldiers of 250 AD (E3b-M215).

Genetic Origins of Celtic yDNA

The R1 paternal branch is estimated to have originated about 25,000 years ago, most likely in south-western Asia (modern Afghanistan). The R1a and R1b variants originated in Eurasia (modern Iran) around 20,000 years ago, gradually spreading westwards through Persia (modern Iraq) and Central Asia. The R1b1 sub-variant then diffused into the Middle East (Levant) and the Caucasus/Black Sea region around 10,000 years ago.

Further westward migration during the Mesolithic period (10,000 to 5,000 years ago) along the coasts of the Black Sea carried this haplogroup into the Balkans and "Old Europe". R1b1b variants continued spreading to the west through Eastern Europe, reaching the Alps around 3,000 years ago in the form of "Proto-Italo-Celtic" cultures.


Probable migration of R1b variants through Europe

The main European variant (P312) dates back to approximately 3500-3000 BC. This means that the first person to carry the mutation lived at least 5,000 years ago, probably somewhere in the lower Danube valley or around the Black Sea.

The subsequent migration/invasion of these horse-riding Indo-Europeans into Western Europe about 2500 BC contributed to the replacement of the native Neolithic farming population by a new Bronze Age culture, with simpler pottery, more cattle-herding, different burial rituals and values -- a patriarchal society in which warriors were heroes. Greek traders of 500 BC referred to their northern Iron Age neighbours as the "Keltoi," meaning Hidden People or Barbarians.

This particular yDNA can be considered as a marker for the so-called "celtic" gene type. R1b is the most frequently occurring Y-chromosomal type in western Europe and areas of central Eurasia. It is also found throughout Eastern Europe, western-central Asia, and parts of North Africa. These days, R1b is most highly concentrated along the western Atlantic coast (Spain, France, Cornwall, Wales, Ireland and Scotland), and is therefore referred to as the "Atlantic Modal Haplotype" or the "Atlantis Clan".


European distribution of the R1b-M343 gene type

As new mutation points (SNPs) are discovered, many more regional variations in R1b are becoming apparent. For example, the "West Germanic" people of Frisian, Anglo-Saxon or Lombard ethnicity carry a unique R-S21 variant, originating somewhere in eastern Europe around 1500 BC. Scots and Irish men carry the R-M222 "Gallo-Britanno-Alpine" variant, which originated around the Swiss Alps circa 1000 BC. People of Basque, Catalan, Gascon, Breton and Cornish ethnicity carry an unusual R-M167 mutation, dating from 850 BC (Frisia or central Europe).

Celts, Picts and Gaels

The basic genetic makeup of native Britons may have come from "just a few thousand" nomadic tribesmen who migrated north from Spain and southern France around 10,000 years ago, after the last great Ice Age. The predominant theory holds that indigenous Britons are descended from ancient hunter-gatherer populations of the Iberian Peninsula, as a result of various northward migrations during the Mesolithic and Neolithic (mid-late Stone Age) periods.

The Iron Age Celts of France were named "Galli" (Gauls) by the Romans who conquered them, although they called themselves "Celtae". The term Gaelic is used these days to denote speakers of the ancient "Goidelic" (or Q-Celtic) language in Ireland, Scotland and the Isle of Man. North-eastern Gallic tribes were referred to by invading Romans as "Belgae", and the south-western celts were named "Aquitani". In 55 BC, Julius Ceasar wrote of them: "All Gaul is divided into three parts, one of which the Belgae inhabit, the Aquitani another, those who in their own language are called Celts, in our [language] Gauls, [inhabit] the third."


European distributions of some R1b (celtic) regional variants

Wherever they came from, prehistoric Indo-European Celtic cultures laid the foundations for the present-day population of the British Isles. By far the majority of yDNA types in the British Isles originated from "Iberian Celts", ranging from a low of 58% in Norfolk to highs of 96% in Llangefni, northern Wales, and 93% in Castlerea, Ireland. The celtic yDNA marker R1b averages 75% in Scotland, although east Scotland has lower levels. England has lower rates of Iberian-Celtic types, with marked heterogeneity, but no English sample has less than 58% of R1b.

The Picts are believed to be descended from the Neolithic (Stone Age) people who colonized Scotland after the glaciers retreated at the end of the last great Ice Age. The Romans referred to the indigenous inhabitants of the British Isles as "Picti", an uncomplimentary term meaning Painted People, used to describe tattooed warriors who smeared themselves with blue woad. Recent genetic analysis has revealed the existence of two Pictish Y-chromosome signatures which are very common in Scotland, but rarely seen in England or continental Europe.

Geneticists at Dublin's Trinity College recently discovered the genetic signature of the most important dynasty of early medieval Ireland, the Ui Niell, literally the descendants of Niall, a fifth century warlord whose descendants claimed the high kingship of Ireland. Possession of this medieval Irish yDNA type in a Scot with a typical Scottish surname is a good indicator of Dal-riadic Scots origins.

Due to European emigration and colonization, R1b also reaches high densities in the Americas, Canada, Australia and New Zealand.

The Romans (43-400 AD)

Haplogroups E1 and E1b1 (M215) are Mediterranean in origin, with a greater occurrence among Iberians, Hispanics, Italians, Greeks and Turks. It most likely arrived in Britain with Roman troops and settlers. All major sub-branches of E1 and E3 are thought to have originated in North Africa, East Africa, or nearby areas of the Near East. E1 probably represent a late-Pleistocene migration from North Africa to Europe over the Sinai Peninsula in Egypt.

E3b (aka E1b1b) probably evolved either in Northeast Africa or the Near East and then expanded to the west both north and south of the Mediterranean Sea. E3b clusters are seen today in Western Europe, the Balkans, the Near East, Northeast Africa and Northwest Africa.

Phoenicians and other traders from the Mediterranean may have brought E3b to Britain in the centuries before Christ. It could also been brought to Britain in more recent times by Iberian sailors, Viking slave traders or Norman administrators, and Flemish merchants of Portuguese Sephardic ancestry. Almost certainly, it arrived with Roman troops and settlers from such places as the Balkans, Mauretania, Asturias, Syria and Mesopotamia.

E3b/E1b1b was found to be identified closely with the southern Balkans, in particular the regions of the former Yugoslav Republics of Macedonia, Kosovo, and Serbia. The theory that members of the E3b1a2 haplogroup migrated to Britain from the Balkans with the Roman military during the first through third centuries AD, as members of auxiliary military units or as members of the regular Roman legions, is supported by genetic, archaeological and historical evidence.

After the initial campaigns, when there would have been a substantial Italian contingent in the legions, the occupation itself was left in the hands of the auxiliaries. In Wales these troops, who would be granted citizenship when they retired, were drawn largely from the valleys of the Rhine and the Danube.


Roman soldiers of Balkan origin in Britain

The invasion of Britain by Roman military forces in 43AD, and the subsequent occupation of Britain for nearly four centuries, brought thousands of soldiers from the Balkan peninsula to Britain as part of auxiliary units and as regular legionnaires. The presence of haplogroup E3b1a/M215 among the male populations of present-day Wales, England and Scotland, and its nearly complete absence among the modern male population of Ireland, provide a genetic indicator of settlement during the 1st through 4th centuries AD by Roman soldiers from the Balkan peninsula and their male Romano-British descendants.

Saxons, Angles, Jutes and Danes (500-1000 AD)

Anglo-Saxon England refers to the historical period from the end of Roman Britain through the establishment of Anglo-Saxon kingdoms in the fifth century, until the Norman Conquest of England in 1066. Anglo-Saxon culture is a general term referring to the medieval Germanic tribes, including Angles, Saxons, Frisians and Jutes, who settled in the British Isles during the early Middle Ages, their language, laws and politics.

Y-DNA haplogroup I (M170), descended from prehistoric Cro-Magnon Europeans, represents nearly one-fifth of the contemporary population of Europe. It can be found in the majority of present-day European populations; the greatest density to be found in Bosnia and Herzegovina, Croatia, Norway, Sweden, Serbia, Sardinia, Denmark and Germany. The haplogroup is frequent near the southern Baltic and North Sea coasts, but almost non-existent outside of Europe.

Haplogroup I1 is a sub-type of haplogroup I occurring at greatest frequency in Scandinavia, associated with the mutations (SNPs) identified as M253, M307, P30, and P40. The group displays a very clear frequency gradient, with a peak of approximately 40% among the populations of western Finland and more than 50% in the province of Satakunta, around 35% in southern Norway, south-western Sweden especially on the island of Gotland, and Denmark, with rapidly decreasing frequencies toward the edges of the historically Germanic (Saxon) sphere of influence.


European distribution of the I1a-M170 gene type

The most recent common ancestor (MRCA) of I1 lived 5,000 years ago somewhere in the far northern part of Europe, e.g. Denmark. His descendants are primarily found among the Germanic populations of northern Europe, and the bordering Uralic and Celtic populations.

On average only 25% of gene types in England derive from north-west Europe. Within England, areas with the highest concentration of Germanic (Danish-Viking/Anglo-Saxon) Y chromosomes occur in areas associated with the Danelaw and Danish-Viking settlement, especially York and Norfolk. In these areas, about 60% of Y chromosomes are of Germanic origin. On the west coast of Scotland, only 15% of the yDNA is Norse in origin. These studies cannot distinguish between Danish, Frisian and German (Schleswig-Holstein) Y chromosomes.

Such genetic research has shown that, contrary to long-standing belief, the Germanic tribes (Angles, Saxons and Danes) did not "wipe out" the Romano-British inhabitants of medieval Britain but rather, over six centuries, politically dominated the indigenous peoples of England and south-east Scotland, who gradually assimilated their language and culture.

Scandinavian Vikings (800-1000 AD)

R1a is thought to have been the dominant haplogroup among the northern and eastern Indo-European speakers who evolved into the Indo-Iranian, Mycenaean Greek, Macedonian, Thracian, Baltic and Slavic branches. The Proto-Indo-Europeans originated in the Yamna culture (3300-2500 BC), in the Pontic-Caspian steppe between modern Ukraine and south-west Russia. Their expansion is linked to the domestication of horses in the Eurasian steppes, and the invention of the chariot.

The eastern part of the Pontic-Caspian steppes is strongly associated with the Indo-Iranian and Balto-Slavic branches of Indo-European languages. Based on archeological, linguistic and genetic data, it is possible to say that the pastoralist nomads who lived in the northern Russian steppes and forest-steppes 5,000 years ago carried predominantly R1a paternal lineages.

Nowadays, high frequencies of Indo-Europeans of the "Corded Ware" or "Battle Axe" culture (R1a haplogroup) are found in Poland (56% of the population), Ukraine (50-65%), European Russia (45-65%), Belarus (45%), Slovakia (40%), Latvia (40%), Lithuania (38%), the Czech Republic (34%), Hungary (32%), Croatia (29%), Norway (28%), Austria (26%), Sweden (24%), north-east Germany (23%) and Romania (22%).


European distribution of the R1a-M17 gene type

In Europe, R1a, again almost entirely in the R1a1a sub-clade, is found at highest levels among peoples of Eastern European descent (Sorbs, Poles, Russians and Ukrainians; 50-65%). In the Baltic countries R1a frequencies decrease from Lithuania (45%) to Estonia (around 30%). Levels in Hungarians have been observed ranging between 20%-60%.

There is a significant presence of the R1a/M17 haplogroup in peoples of Scandinavian descent, with highest levels in Norway and Iceland, where around 20-30% of men are in R1a1a. Vikings and Normans carried the R1a1a lineage westward, accounting for its presence in the British Isles.

The Norse Vikings spread out from their native Scandinavia in longships during the Viking Age, starting around 800 AD. Although infamous for their looting and pillaging, genetic evidence confirms their colonisation of Iceland and the Northern Isles of Scotland, and to a lesser degree other parts of Scotland and England, and the Isle of Man.

Regional Haplogroups of the British Isles
yDna TypeEthnicity England Wales Ireland Scotland
R1bCeltic67%82%79%72.5%
I1Anglo-Saxon14%6%7%9%
R1aScandinavian4.5%2%3%8.5%
I2bMesolithic4.5%1%4%4%
I2aBalkan2.5%0.5%2%1%
J2Phoenician3.5%1.5%1.5%2%
E3b (E1b1b)Roman2%2%-1.5%

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