Key Concepts

Remembering high school biology, women have two x chromosomes, one inherited from the father and one from the mother. Men have an x chromosome inherited from the mother and a y chromosome inherited from the father. This difference comes about because each sperm contains either an x chromosome or a y chromosome, while each egg always contains an x chromosome. An xy combination makes a person male, while an xx combination makes a person female.

In simple terms, each man receives his y chromosome from his father, unchanged except for any mutations. So, a man’s yDNA will match his father and brothers exactly. His sisters will not have a y chromosome and cannot pass it on to their children.

yDNA Molecule

The y chromosome is a DNA molecule consisting of 78 genes. One of those genes is SRY, which causes an embryo to develop as a male. The y chromosome is composed of 58 million smaller units, called base pairs. Each base pair is composed of two nucleotides. There are only four possible nucleotides — adenine (A), thymine (T), cytosine (C) and guanine (G).

Each nucleotide has a complementary nucleotide. So, along the strand of DNA, adenine is always paired with thymine, and cytosine is always paired with guanine. Because each nucleotide can only appear with its complement, it is not necessary to report both sides of the chain. So, the DNA chain can be expressed as a chain of nucleotides, for example, GATCACAGGT…

DNA tests look at the non-coding region (“junk DNA”). This means the DNA in this part of the y chromosome doesn’t do anything. It doesn’t affect physical appearance or health. Because junk DNA is no longer used by the human body, mutations can accumulate without damage.

yDNA Mutations

Mutations on the y chromosome can take four forms:

  • Substitutions – the base pair at a particular location can change.
  • Deletions – the base pair at a particular location can be deleted.
  • Insertions – a new base pair can be inserted between existing locations.
  • Repeats – the number of repetitions of a pattern of base pairs at a particular location can increase or decrease.

The two most common yDNA tests are SNP tests and STR tests. Each type of test looks for different types of mutations. They give different information and are reported differently.

SNP Tests

A SNP test looks for the presence (or absence) of a particular substitution, insertion or deletion. (SNP stands for single-nucleotide polymorphism. It is pronounced snip.) 

Men with the same SNP mutation belong to the same haplogroup. Geneticists correlated information about SNP mutations to create the human family tree. 

The shorthand for SNP mutations uses a letter and number combination. The letter identifies the lab that discovered the mutation. The number is the order in which it was discovered. So, P303 is shorthand for a mutation discovered at Lab P (University of Arizona). It is number 303 in order of discovery. A man who tests positive has the mutation. He would be identified by the shorthand P303+. A man who doesn’t have the mutation would be P303-.

STR Tests 

Y Chromosome Diagram

An STR test looks at certain locations on the y chromosome to find the number of times a particular string of base pairs repeats at that location. The repeats are called Short Tandem Repeats (STRs), or allelles, or just repeats

Different male lineages have different numbers of repeats at different locations. The unique combination of different numbers of repeats at different locations is called a haplotype.

The shorthand for reporting STR tests uses a location number on the y chromosome plus the number of repetitions at that location. Locations have DYS numbers. (DYS stands for DNA Y-chromosome Segment.) So, for example, the test results might show a value of 7 at DYS 393. This result means that the place on the y chromosome that has been designated DYS 393 has 7 repeats of whatever pattern is present at that location. (The particular pattern doesn’t matter and isn’t usually mentioned.)

Comparing the Tests

Genetic tests for genealogy typically focus on STR tests, supplemented by SNP tests. Both types of mutations accumulate slowly, but SNP tests usually reveal a common ancestor thousands or even tens of thousands of years ago. On the other hand, STR tests can show a common ancestor within a thousand years, or even a few hundred years.

SNP mutations are rare, so we can be sure all men whose y chromosome contains a particular SNP are male-line descendants of a single ancestor who originally had that mutation. But, because they are rare the common ancestor might have lived some time in the very distant past.

STR mutations are less rare. To maximize results, geneticists test locations on the y chromosome that have a high mutation rate. When comparing two men, a single difference probably indicates their common ancestor lived about 25 to 40 generations ago. Two men with the same surname and same haplotype are almost certainly both descended from a man who adopted that surname.

However, because mutations are random, they can happen any time. Even two brothers might have a difference. A family group of grandfather, father, uncles, brothers and cousins might all have 7 repeats at DYS-393, but one brother might have 8 — he has had a mutation that increases the number of repeats. His descendants will all have 8 repeats at DYS-393.

In genealogy, the testing objective is often to find out whether two men who share a common surname are likely to have a common ancestor within the past thousand years. Therefore, STR tests are usually more valuable for genealogists, while SNP tests are more valuable for anthropologists. However, when STR tests are ambiguous because of convergence an SNP test might solve the problem.


Two men with the same STR haplotype might be related, but the result might be chance. The number of men who share the same haplotype is much smaller than the number of men with the same SNP haplogroup.  If the men have the same surname, they are almost certainly relative. But, if they have different surnames, the match might be the result of convergence — unrelated lineages can develop the same combination of STR markers independently. In these cases, more testing will show the problem. Testing more STR locations might show that the two men do not actually have the same haplotype, or an SNP test might show that they actually belong to different haplogroups.

Historic DNA

All living men have inherited their y chromosome from Genetic Adam, along with the mutations that have accumulated in their individual family lines. Geneticists can test for these accumulated mutations. By analyzing the mutations present in modern men, geneticists can group them. Individual test results show a man’s haplotype. Men with the same haplotype are likely to belong to the same family.

A haplogroup consists of all the male-line descendants of an ancestor who had a particular SNP mutation in his y chromosome. These haplogroup founders typically lived before the adoption of surnames, and passed on the mutation to all their descendants in the male line. Men in the same haplogroup share a common ancestor, usually thousands, or tens of thousands, years ago.

Geneticists currently recognize 20 haplogroups, each designated with a capital letter between A and T. Subgroups within each haplogroup are represented by numbers and further subgroups by lower case letters. For example, five men in haplogroup G might belong to five different subgroups: G*, G1, G2, G2a and G2b. The G* man belongs to haplogroup G, but not to any known subgroup. G1 and G2 are subgroups of G. G2a and G2b are subgroups of G2.

New mutations are being discovered so rapidly, and the haplogroup tree has changed so often, some sources prefer to use a shorthand that combines the Haplogroup with the SNP code. For example, G-P303 indicates a member of Haplogroup G who carries the P303 mutation, the mutation that defines G2a2b2a in the current (2018) ISOGG tree.

Haplogroups are useful for tracing population movements because, unlike mtDNA, yDNA haplogroup dispersal is “highly non-random”. That is, yDNA haplogroups are concentrated in certain geographic areas, even though there is no area where the entire population belongs to the same haplogroup. Therefore, geneticists can use modern haplogroup dispersal to trace population movements in pre-historic times.

The nine most common haplogroups in Europe are E1b1b, G, I1 (M253), I2a (P37.2), I2b1 (M223), J2, N3, R1a, and R1b. The old European haplogroups (R1a, R1b and I) account for 80 percent of the present European population. Incoming haplogroups from the Middle East (E1b1b, G, J2 and N) account for the other 20 percent.

European Haplogroups (Source: Wikipedia)

As a general rule of thumb: R1b = Western Europe, R1a = Eastern Europe, I = Nordic, G = Middle Eastern, J2 & E1b1 = Semitic, and Q3 = Native American.

Hauri Haplogroups

Members of the Hauri yDNA project belong to the following haplogroups:

  • Haplogroup E1b1b1* (E-M35) – a Semitic group
  • Haplogroup G2a3b (G-P303) – an non-Semitic, Middle Eastern group
  • Haplogroup I2a (I-P37.2) – a Nordic group
  • Haplogroup R1b1b2 (R-M269) – a Western European group
  • Haplogroup R1b1b2a1a4 (R-L48) – a Western European group

From these results we see that not all Hauris belong to the same male lineage. In fact, it is virtually certain that eventually we will find members in many other haplogroups.

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All modern humans descend in the male line from a particular man, nicknamed “Genetic Adam,” who lived about 60,000 years ago. All living men have inherited his y chromosome (yDNA), along with the mutations that have accumulated in our individual family lines.

Geneticists can test for these accumulated mutations. Individual test results show a man’s haplotype. Groups of similar haplotypes form a haplogroup.

Technically, a haplogroup consists of all the male-line descendants of an ancestor who had a particular SNP mutation in his y chromosome. Geneticists currently recognize 18 haplogroups, each designated with a capital letter between A and R. In addition, subgroups within each haplogroup are represented by numbers and further subgroups by letters. For example, G, G1, G1a and G1b, where G is the haplogroup, 1 is a subgroup, and a and b are further subgroups. G* represents a man who belongs to haplogroup G but not to one of the defined subgroups.

Haplogroups are genetic groups that share a distant male ancestor who lived before the adoption of surnames. They are identified by particular mutations that the founding ancestor passed on to all his descendants in the male line.

Humans exhibit less mtDNA and yDNA diversity than expected, far less than our closest primate cousins, the chimpanzees. Some scientists believe that humans nearly became extinct about 70,000 years ago (~2,800 generations) when the Toba supervolcano erupted in Indonesia, triggering an environmental catastrophe. According to this theory, the human population might have been reduced to a few thousand people, perhaps as few as 1,000.

An article in Science magazine (2000) estimated that 80% of European men share a common ancestor, who lived as a primitive hunter some 40,000 years ago. He was one of the Paleolithic (Old Stone Age) people who first migrated to Europe, probably from Central Asia and the Middle East, in two waves of migration beginning about 40,000 years ago. Their numbers were small and they lived by hunting animals and gathering plant food. They used crudely sharpened stones and fire.

When the last ice age began, about 24,000 years ago, the Paleolithic Europeans retreated to Spain, the Balkans and the Ukraine, where they lived for hundreds of generations. When the glaciers melted, about 16,000 years ago, these three groups spread out through Europe. The male-line descendants of the group that lived in Spain are now most common in northwest Europe, those from the Ukraine are primarily in Eastern Europe, and those from the Balkans are most common in Central Europe.

During the Neolithic (New Stone Age) era, about 8,000 years ago, another wave of migration, this time from the Middle East, brought agriculture to Europe. About 20 percent of modern Europeans have a y chromosome that shows they descend from this Neolithic migration.

Unlike mtDNA, yDNA haplogroup dispersal is “highly non-random”. That is, yDNA haplogroups are concentrated in certain geographic areas, even though there is no area where the entire population belongs to the same haplogroup. Therefore, geneticists can use modern haplogroup dispersal to trace population movements in pre-historic time.

Source: Family Tree DNA

Haplogroup B: This lineage is one of the oldest y-chromosome lineages in humans. It s found exclusively in Africa. This lineage was the first to disperse around Africa. Archaeological evidence suggests a major population expansion in Africa approximately 90-130,000 years ago. It has been suggested that this event might have spread Haplogroup B throughout Africa. Haplogroup B appears at low frequency all over Africa, but is at its highest frequency in Pygmy populations.

Haplogroup C: This lineage originated about 50,000 years ago, shortly after humans left Africa. It is found throughout mainland Asia and the south Pacific, and at low frequency in Native American populations. This lineage colonized New Guinea, Australia, and northern Asia. It is currently found with its highest diversity in populations of India. Genghis Khan seems to have been a member of this haplogroup. The C3 subgroup is believed to have originated in southeast or central Asia. It spread into northern Asia, then into the Americas.

Haplogroup D: This lineage probably originated in Japan. It is completely restricted to Japan, and is a very diverse lineage among the aboriginal Japanese and the Japanese population around Okinawa.

Haplogroup E: This lineage probably originated in northeastern Africa based on the concentration and variety of E subclades in that area today. But the fact that Haplogroup E is closely linked with Haplogroup D, which is not found in Africa, leaves open the possibility that E first arose in the Near or Middle East and was carried into Africa by a back migration. E1b1a is the most common lineage among African Americans. E1b1b1 probably evolved either in northeastern Africa or the Near East and then expanded to the west, both north and south of the Mediterranean Sea. E1b1b1 clusters are seen today in western Europe, southeasten Europe, the Near East, northeastern Africa and northwestern Africa. William Harvey, who discovered the principle of blood circulation belonged to E1b1b1, as Wilbur and Orville Wright. The Polish Haurys are E1b1b1.

Haplogroup G: This lineage probably originated in Anatolia (Asia Minor). It has dispersed into central Asia, Europe, and the Middle East. It is most common in the Caucasus region, especially the Republic of Georgia where it approaches 30% of the population. In Turkey it is found in some 10% of the population. The G2 branch of this lineage is found most often in Europe and the Middle East. In Europe, haplogroup G accounts for 1-2% of the population with a gradient from southeast (most common) to northwest (least common). Haplogroup G, along with Haplogroups J and E3b, is thought to be a marker for the spread of farmers from the Middle East into Europe 6,000-8,000 years ago. In Italy, it accounts for some 10% of population, and is especially concentrated in Lombardy. It diffuses north into Switzerland and Germany, with another concentration in the Austrian Tirol. In Scandinavia, it accounts for only 1-3% of the population. Russian dictator Joseph Stalin belonged to haplogroup G2a1. The Swiss Hauris belong to haplogroup G2a4.

Haplogroup H: This lineage is believed to have originated in India between 20,000 and 30,000 years ago. It seems to represent the indigenous paleolithic inhabitants of India, because it is the most frequent among tribal populations, but rare among the higher castes. This haplogroup is almost completely restricted to India, Sri Lanka and Pakistan. It is also common among the Roma (Gypsies).

Haplogroup I: This lineage is almost entirely confined to Europe, where it accounts for about 20% of the population. Semino et al. believe that Haplogroup I stems from the Gravettian culture, which arrived in Europe from the Middle East about 20-25,000 years ago. The Gravettian culture was “known for its Venus figurines, shell jewelery, and for using mammoth bones to build homes.” There are two main branches of Haplgroup I:

  • Haplogroup I1: This lineage has highest frequency in Scandinavia, Iceland, and northwest Europe. One lineage of this group extends down into central Europe, probably as a result of the barbarian invasions during the late Roman Empire. There are smaller concentrations on the coasts of northwestern Europe. Haplogroup I1 has been called the Viking group. Its distribution along the coasts of northwestern Europe probably reflects Viking raids and settlements in the 8th and 9th centuries.
  • Haplogroup I2: appears to have originated in the Balkans, perhaps from a glacial refugium there; I2a is very common in Croatia and Bosnia today and decreases in frequency across Eastern Europe. A rare offshoot branch of I2a is also found further West, including in the British Isles. Another subgroup of I2a is by far the most common lineage in Sardinia, but it is also found at low frequencies in France and Spain. A Howery family of unknown origin belongs to I2a.

Haplogroup J: This lineage is found at highest frequencies in Middle Eastern and north African populations, where it probably evolved. This marker has been carried by Middle Eastern traders into Europe, central Asia, India and Pakistan.

  • Haplogroup J2: This lineage originated in the northern part of the Fertile Crescent. It later spread throughout central Asia and the Mediterranean, and south into India. As with other populations with Mediterranean ancestry, this lineage is found within Jewish populations.

Haplogroup K: his lineage first appeared about 40,000 years ago in Iran or southern central Asia.

Haplogroup N: This lineage is distributed throughout northern Eurasia. It is the most common y chromosome type among Uralic speakers (Finns and Hungarians). This lineage probably originated in northern China or Mongolia, then spread into Siberia where it became a very common line in western Siberia.

  • Haplogroup N3: One study in Hungary found that 12% of the male population today belongs to this haplogroup. It is found most in the region of Asia where the Huns are supposed to have originated, and where the language is still similar to theirs. The Huns invaded Europe in historic times. The other 88% of Hungarians descend mainly from the inhabitants of the former Roman province of Pannonia, which, once conquered, took on the new language.

Haplogroup O1: This lineage is found at very high frequency among the aboriginal Taiwanese (possibly due to genetic drift). It probably originated in eastern Asia and later migrated into the south Pacific. Individuals carrying this lineage are thought to have been important in the expansion of the Austronesian language group into Taiwan, Indonesia, Melanesia, Micronesia and Polynesia.

Haplogroup Q: This lineage is found in Asia and the Americas. It is found in north and central Asian populations as well as native Americans. This lineage is believed to have originated in central Asia and migrated through the Altai/Baikal region of northern Eurasia into the Americas.

  • Haplogroup Q3: This lineage is the only lineage strictly associated with indigenous American populations. The mutation that defines it occurred in the Q lineage 8-12,000 years ago as the migration into the Americas was underway. There is some debate about the side of the Bering Strait on which this mutation occurred, but it definitely happened among the ancestors of the Native American people.

Haplogroup R.

  • Haplogroup R1a: This lineage is believed to have originated in the Eurasian steppes north of the Black and Caspian Seas, perhaps in a population of the Kurgan culture. The Kurgans were known for the domestication of the horse (approximately 3000 BCE). They are believed to have been the first speakers of an Indo-European language. This lineage is currently found in central and western Asia, in India, and in the Slavic populations of eastern Europe. Somerled, who defeated the vikings and established a kingdom in the Hebrides, was a member of this haplogroup.
  • Haplogroup R1b: This lineage is the most common haplogroup in European populations. It is found in about 90% of Basques, 80% of Irish and Welsh, 70% of Scots, 60% of English, 50% of French, 50% of Germans, but only 25% of Norwegians and 1% of Syrians. It is believed to represent the main pre-Ice Age population of western Europe, which expanded throughout Europe as humans re-colonized after the last Ice Age 10-12,000 years ago. Studies on Scottish and Irish families have shown that Colla Uais and Niall of the Nine Hostages, the putative ancestors of many clans and septs, were probably members of this haplogroup.

Haplogroup T: Thomas Jefferson was a member of this lineage. Descendants of his paternal uncle Field Jefferson were tested as part of a project to verify the paternity of the children of Thomas Jefferson’s mistress, Sally Hemmings.

As a general rule: R1b = Western Europe, R1a = Eastern Europe, I = Nordic, G = Indo-Aryan, J2 & E3b = Semitic, and Q3 = Native American.

See Also

Haplogroup G

Test results so far show that the majority of Hauris and Haurys from Switzerland and southern Germany belong to Haplogroup G2a.

Haplogroup G is defined by a mutation at M201. The first man to have the M201 mutation is thought to have lived about 30 thousand years ago (~1,200 generations), probably south of the Caucasus mountains and perhaps near Lake Van, but perhaps along the eastern edge of the Middle East or as far east as the Himalayan foothills in Pakistan or India.

The founder of Haplogroup G has had relatively few descendants compared to the founders of other haplogroups.


Haplogroup G has its greatest modern concentration and diversity near the Caucasus Mountains (which it why it is thought to have originated there). Haplogroup G includes about 60 percent of Ossetians; 30 percent of Georgians, Kabardinians and Balkarians; and lesser percentages in Azerbaijan (18 percent) and Armenia (11 percent) .

Members of Haplogroup G dispersed into central Asia, the Middle East and Europe. Those that went north have descendants in Russia (Adygeans), Uzbekistan (Tartars and Karakalpaks), Mongolia, and western China (Uygurs). Some went east into China, Indonesia, Taiwan, the Philippines, and the Polynesian Islands, but most of those moved back into the Middle East.

Haplogroup G is one of the significant indigenous populations of the ancient Middle East. G is well represented there today — Israeli Jews (9.8 percent), Turkey (9.2 percent), Egypt (9 percent), Palestine (8.9 percent), Lebanon (6 percent), Jordan (5.5 percent), Syria (4.8 percent), and Saudi Arabia (4.5 percent). It was probably one of the founding populations of the ancient Hebrews, perhaps 20 percent of the total. Today, about 10 percent of Jews, both Ashkenazim and Sephardim, belong to Haplogroup G.

Those that went west and north are represented today in Europe. In Europe Haplogroup G, along with Haplogroups J and E3b, is thought to be a marker for the spread of farming from the Middle East 6 to 8 thousand years ago (~240 to ~320 generations). Farming originated in the Middle East about 10 thousand years ago (~400 generations). As populations expanded, farmers began moving out of the Middle East, through the islands and along the shores of the Mediterranean, through Turkey and into the Balkans and the Caucasus mountains. It was once thought that advancing farmers displaced or eliminated the hunter-gatherers of Europe. However the DNA studies have shown that the spread of agriculture involved the movement of some people into Europe who had not been there before.

An hypothesis that gaining popularity is that these same people might have introduced the Indo-European language into northern India, the Middle East and Europe. Indo-European is the parent language for Greek, Latin, Sanskrit and Germanic, hence of most of the other languages of the northern India, the Middle East and Europe. There have been many attempts to identify the original Indo-European homeland, but it is now thought to have been the Sredy Stog culture in what is now eastern Ukraine.

Only about 1 to 3 percent of modern Europeans are in Haplogroup G, with a gradient from southeast (most common) to northwest (least common). There are concentrations in Sardinia (14 percent), Ibiza (13 percent), Corsica (11.8 percent), Crete (10.9 percent), north central Italy (10 percent), northeastern Spain (8.3 percent), Malta (8 percent), Portugal (7.3 percent), the Austrian Tirol (7 percent), and the Czech Republic (5.1 percent). The Mediterranean concentrations might indicate settlements by the Phoenicians and the Carthaginian empire. Haplogroup G was probably spread by the Romans, both by the recruiting of soldiers and the movement of merchants. Its modern distribution in Europe appears to track closely the boundaries of the Roman empire.

One of the — probably ancient — divisions within Haplogroup G is between those who have 13 repeats at DYS388, and those who have 12 repeats. European men are more likely to have 13, while Middle Eastern men are more likely to have 12. There are exceptions, however. Some Iranian men, those just south of the Caspian Sea, are more similar to men south of the Caucasus Mountains (Georgia, Armenia, Azerbaijan) than to other Iranians. In addition, there are many indications that some Iranians have a closer relationship to Welshmen, Englishmen, Swiss and southern Germans than to Turks, Russians and Ossetians. Such results suggest ancient migration patterns.

Haplogroup G2

Haplogroup G2 is defined by a mutation at P287. It seems to have originated in Anatolia (modern Turkey), but the date is uncertain. Today, G2 is found most often in Europe and the Middle East. There is a  concentration of this haplogroup in central Italy, diffusing north into the Swiss Alps. This group is very likely descendants of the Etruscans.

G2 has three subgroups, G2a, G2b and G2c, defined by mutations at P16, M287 and M377, respectively. M287 is based on a single sample from Turkey, and no longer meets the criteria for its own haplogroup. It is expected to be eliminated. G2c is composed almost entirely of Ashkenazic Jews.

Haplogroup G2a

Haplogroup G2a is defined by a mutation at P15. It seems to have originated in the Caucasus, but the date is uncertain. G2a has a subgroup G2a1 that has additional mutations at P17 and P18.

Haplogroup G2a3

(no information available)

Haplogroup G2a3b1

Haplogroup G2a3b1 is defined by a mutation at P303. This group includes the majority of European men in Haplogroup G. The founder is thought to have lived perhaps 5 thousand years ago, probably somewhere in the Middle East, perhaps Turkey or Iran. Its major subgroups are thought to have split off perhaps 4 thousand years ago, and spread to Europe between 1,500 and 2,500 years ago.

For many years it was widely believed that this mutation was a marker for Sarmatian soldiers serving in the Roman legions near Hadrian’s Wall in Britain. When it became evident there was also a significant concentration of the same group on the continent, the mutation was attributed to the Alans, a barbarian tribe that entered Europe in the 5th century, first as Roman soldiers and later as allies of the Visigoths. However, within the past few years, testing in the Sarmatian and Alan homeland near the Caucasus Mountains has shown no close matches to European men in the same group.

It is now clear the evidence does not support an Alan or Sarmatian origin. Instead, this group might have been brought to Europe by merchants, perhaps the Jewish Radhanites. The theory is controversial. There is another subgroup of P303 that includes a large numbers of Ashkenazi Jews. This subgroup has its greatest European concentration on the island of Ibiza, which is known to have had a significant population of crypto-Jews. However, there no evidence that the group as a whole was ever anything more specific than Middle Eastern indigenes.

Haplogroup G2a3b1b1

Haplogroup G2a3b1b1 is defined by mutations at L42/S146 and L43/S147. These mutations were first discovered in a genetic sample from Justin (Howery) Swanström, tested at 23andme. Family Tree DNA subsequently developed a commercial test. About 30 percent of DYS-388=13 men who have tested for the L42 marker are positive. They have widely divergent marker values, indicating that this is a very old SNP (Banks, Y-DNA-Haplogroup-G-L, 5/27/09). It now appears that a quarter of G2 men from Switzerland are probably members of this group.

These mutations seem to be nearly as ancient as P303, perhaps 4,500 years old. However, L42 might be as recent as 2,500 years. Taken together, the two mutations are probably a marker for the ancient populations of Etruria and Rhaetia.

The Swiss Hauris belong to Haplogroup G23ab1b1 (G-L43/S147).


The Etruscans were a non-Indo-European people in what is now Italy. Their origin is a mystery; they were not related to any of their neighbors. Their very sophisticated urban culture pre-dated the rise of Rome. They emerged about 800 BCE in Tuscany and the Po river valley, and dominated northern Italy until they were assimilated by the Romans in the first century BCE.

The origin of the Etruscans is controversial. In the fifth century BCE the Greek historian Herodotus believed the ancestors of the Etruscans originated with a colony of Lydians from Anatolia (Turkey). (Herodotus, The Histories (c. 430 BCE), 1.94). Other ancient historians had other theories. According to Dionysius of Halicarnassus (1st century BCE), the Etruscans were indigenous to Italy.

Distribution of Haplogroup G2a (Source: Eupedia)

Herodotus’ claim of a Lydian origin has been controversial from the beginning, but is supported now by genetic studies. Several studies have used the higher incidence of Haplogroup G in Tuscany to support the theory of an Anatolian origin. Studies of mtDNA in modern Tuscans and ancient Etruscans also indicate an origin in the Near East. Archaeology and DNA studies of Tuscan cattle breeds suggests the Etruscans arrived in Italy about 1200 BCE.

In the map at right, we see the heaviest concentration of G2 in the Caucasus region. Also note the concentrations in ancient Anatolia (modern Turkey), in central Italy, and in ancient Rhaetia north of Italy. In the map below, we see the extent of Etruscan civilization.

Etruscan civilization


The Rhaetians were a tribal people, north of the Alps, who were conquered by the Romans. They lived in what is now eastern and central Switzerland (containing the Upper Rhine and Lake Constance), southern Bavaria and Upper Swabia, Vorarlberg, the greater part of Tirol, and part of Lombardy. Today, this area shows a relatively high concentration of G2 compared to the rest of Europe.

The Rhaetians believed their ancestors were Etruscans who had been driven from the plains of the Po River in Italy by invading Gauls (386 BCE). This traditional account is supported by the Rhaetian language, which was closely related to Etruscan.

By the time the Rhaetians first appear in history, they were completely amalgamated with Celtic tribes settled in the same area. In the early sixth century Rhaetia was occupied by the Ostrogoths, and in the ninth century it was integrated into the Frankish polity. Even if Haplogroup G predominated among the early Rhaetians, given this history, it is not surprising that other haplogroups now predominate in the same area.


The information above was adapted from Whit Athey’s Y Haplogroup G website (now offline) and Spencer Wells’ book, The Journey of Man – A Genetic Odyssey (Random House, 2004).

Information about the Anatolian origin of the Etruscans has been extracted from a number of scientific papers: F. Brisighelli et al., The Etruscan timeline: a recent Anatolian connection, European Journal of Human Genetics (2008); A. Achilli et al., Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans, American Journal of Human Genetics, vol. 80, no. 4 (2007), pp. 759-768; A. Piazza et al., Origin of the Etruscans: novel clues from the Y chromosome lineages, European Journal of Human Genetics, vol. 15, Supplement 1 (June 2007), p.19 (Abstract of paper read at the 39th European Human Genetics Conference in June 2007); C. Vernesi et al., The Etruscans: A Population-Genetic Study, American Journal of Human Genetics, vol. 74 (2004), no. 4 pp. 694-704. And see S. Guimaraes et al., Genealogical discontinuities among Etruscan, Medieval and contemporary Tuscans, Molecular Biology and Evolution, published online on July 1, 2009.

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Human Origins

All modern humans descend in the male line from a particular man, nicknamed Genetic Adam, who lived in Africa about 142 thousand years ago (~7,100 generations). This is much older than previously thought. Geneticists discovered this information by mapping mutations on the y chromosomes of modern men.

Before Adam

Archaeological evidence shows modern humans emerged some 200 thousand years ago. Yet, humans exhibit less genetic diversity than expected, far less than our closest primate cousins, the chimpanzees.

The early human population was relatively small. A University of Utah study suggests that 2.1 million years ago the human population was probably about 55.5 thousand people, of whom perhaps 18.5 thousand were ancestors of modern humans. (The Times-Tribune, Mar. 18, 2010).

Genetic Adam

When a yDNA mutation appears in a man, all of his male-line descendants will also carry that marker. If we compile information on a large set of markers, then project them back in time using computer algorithms, we find that the trail of mutations coalesces in a single man who lived some 142 thousand years ago (~7,100 generations) (Cruciani et al. 2011). This date is a little uncertain. The 95% confidence interval is 60 to 142 thousand years ago.

This common ancestor has been dubbed Genetic Adam. He lived in Africa, probably on the plains of east Africa. He might have resembled the Han people who live in south Africa today. The mutation that appeared in Genetic Adam is now carried by every human male on the planet.

The term Genetic Adam is misleading. He was not the first modern human male. His father was undoubtedly fully as human as he was. The mutations in non-functional regions of the y chromosome are “silent” – they don’t do anything. So, none of Genetic Adam’s contemporaries would have thought that there was anything out of the ordinary about him. He was different from his contemporaries only in the sense that his male line descendants have survived down to the present, while those of his contemporaries did not.

There were other men living at the same time, but they did not carry the same mutation and none of the male lines from them survived down to the present.

Genetic Adam is also a misnomer in the sense it does not refer to a fixed individual. As male lines on the edges of the human tree die out, the remaining lines converge on a different man, one who lived more recently.

African Diversity

About 75 thousand years ago (~3,000 generations), one of Genetic Adam’s descendants developed a mutation now called M94. He is the paternal ancestor of the overwhelming majority of people living today. His descendants founded Haplogroups B through T. Only Haplogroup A, which until fairly recently was confined to sub-Saharan Africa, does not carry the M94 mutation. All other modern men are descended in the male line from this man and carry the M94 mutation.

M94 lived on the plains of east Africa. Many of his descendants lived along the coast of northeast Africa.

Near Extinction

Some scientists believe that humans nearly became extinct about 70 thousand years ago (~2,800 generations) when the Toba super-volcano erupted in Indonesia, triggering an environmental catastrophe. According to this theory, the eruption triggered a volcanic winter that lasted 6 to 10 years, and reduced the human population to perhaps 10 thousand, or possibly just 1 thousand, people. (Wikipedia: Toba catastrophe theory).

Eurasian Adam – Out of Africa

About 68.5 thousand years ago (~2,400 generations), one of M94’s descendants developed the M168 mutation. This man is often called Eurasian Adam, because he is the ancestor of everyone outside of Africa (and quite a few people still in Africa). His descendants make up Haplogroups C through T.

Out of Africa
Out of Africa (Source: National Geographic)

M168 might have lived in what is now Ethiopia.

About 45 thousand years ago (~1,800 generations), Haplogroup CT split into an African group (Haplogroup E) and an Asian group (Haplogroup F). Increasing ice in the far north dried up the African climate to the extent that at least two different groups of M168’s descendants left Africa in search of adequate food supplies, or perhaps just seeking new lands.

The first wave of his descendants left Africa close to 60 thousand years ago (~2,400 generations). They followed the southern coastline of Asia eastward. Sea level was as much as 400 feet lower than it is now. They and their descendants ended up in southeast Asia, Australia, southern China, and the Pacific Islands. Some of them joined their distant cousins in North America some 10 thousand years ago (~400 generations).

A second wave of M168’s descendants were forced out by a period of drying. They went north and east out of the Sahara area through Egypt into the Arabian peninsula and the Middle East.

M89 – Founder of Macro-Haplogroup F

M168’s descendant M89 lived about 45 thousand years ago (~1,800 generations), probably in modern-day Iraq. He was the founder of macro-haplogroup F. His descendants include all members of Haplogroups G through R. This means he is the ancestor of virtually everyone in Europe and the Middle East, and of the vast majority of Asians and Native Americans.

A large group of M89’s descendants moved up into central Asia above the Caspian Sea. It was very cold there near the edge of the great northern ice pack. Life would have been harsh but food was plentiful. Vast herds of big game thronged the tundra and the grasslands south of the ice pack.

About 40 thousand years ago (~1,600 generations), a new mutation arose in Central Asia, M9, that founded a new Haplogroup K, the ancestor of the Eurasian Haplogroups L through R. His descendants spread over most of Europe, Asia and the Americas. Half of modern Europeans belong to this haplogroup.

Another group of M89’s descendants stayed in or near the Middle East. Some of them might have returned to northeastern Africa. New mutations among them gave rise to the Haplogroups G through J.

(6) About 35 thousand years ago (~1,400 generations), two new groups, R and NO, branched off from K. Haplogroup R moved to western Central Asia. Haplogroup NO moved to eastern Central Asia.

(7) About 30 thousand years ago (~1,200 generations), Haplogroup R split into R1 and R2. Haplogroup R1 moved to the steppe area between the Ural mountains and the Caspian Sea.

(8) About 25 thousand years ago (~1,000 generations), one branch of Haplogroup R1, Haplogroup R1b, reached Iberia and the Atlantic coast. Somewhat later, Haplogroup R1a branched from R1 and became common in the Ukraine.

(9) About 25 thousand years ago (~1,000 generations), the Middle Eastern Haplogroup F sent another branch to Anatolia and further to the Balkans, and a new group emerged, Haplogroup I.

An estimated 80 percent of European men share a common ancestor, who lived as a primitive hunter some 40 thousand years ago (Semino et al., The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective, 2000). He was one of the Paleolithic (Old Stone Age) people who first migrated to Europe, probably from Central Asia and the Middle East, in two waves of migration beginning about 40 thousand years ago. Their numbers were small and they lived by hunting animals and gathering plant food. They used crudely sharpened stones and fire.

About 24 thousand years ago (~960 generations), the last ice age began. The Paleolithic Europeans retreated to three refuge areas: Spain, the Balkans and the Ukraine, where they lived for hundreds of generations.

About 16 thousand years ago (~640 generations), the glaciers melted. The three groups spread out through Europe. The male-line descendants of the group that lived in Spain are now most common in northwest Europe (Haplogroup R1b), those from the Ukraine are primarily in eastern Europe (Haplogroup R1a), and those from the Balkans (Haplogroup I) are most common in central and northern Europe.

Spread of Agriculture

About 10 thousand years ago (~400 generations), the people of the Fertile Crescent developed agriculture. Before that time all humans were hunter-gatherers. With a more stable food supply, populations could expand rapidly. Farmers began moving out of the Middle East, through the islands and along the shores of the Mediterranean, through Turkey into the Balkans and the Caucasus Mountains.

About 8 thousand years ago (~320 generations), during the Neolithic era (New Stone Age), another wave of migration, this time from the Middle East, brought agriculture to Europe. Early theories suggested that the advancing farmers probably displaced or eliminated the hunter-gatherers of Europe. DNA studies have shown that the spread of agriculture involved the movement of some people into Europe who had not been there before, but the spread of farming was primarily through the adoption of the new technology by the existing Europeans.

Many geneticists currently believe that when Haplogroup G, J and Eb1 are found in Europe, it is often (but not always) a marker for the spread of farmers from the Middle East into Europe. About 20 percent of modern European men have y chromosomes that show they descend from this Neolithic migration.

European Cousins

The mutations M201M52, M170, and 12f2.1 gave rise to Haplogroups G, H, I, and J. Haplogroup G is concentrated near the the Caucasus mountains. Haplogroup H is largely confined to the Indian subcontinent. Haplogroup I spread up through central Europe and into Scandinavia, where it is common today. Haplogroup J is very common in the Middle East, where many Jews, Arabs, and others belong to it. These four haplogroups probably arose between 20 and 30 thousand years ago, but Haplogroup G might be a bit younger.

Read More

What’s Next in the World of DNA Testing?

by Megan Smolenyak, Family Chronicle (January-February 2003)

Over the last couple of years, genealogists have started to dabble in the world of genetic genealogy, or as I like to call it, “genetealogy.” When it finally became available on the individual consumer level, a few curious souls ventured forth to be the first in line to experiment on their own families with this new technology. As they began posting their early results on the Internet and costs slid from one-time splurge to a more affordable range, others joined the pioneers and launched their own projects.

Very quickly, a pattern revealed itself. Virtually everyone was doing Y chromosome-based, surname studies to determine if people of the same last name were descended from a common ancestor. In fact, Chris Pomery’s DNA Portal now lists almost 250 such projects.

This is a logical result of the fact that Y chromosome testing provides for such a convenient and genealogically interesting inquiry. Passed from father to son through the generations, Y chromosome DNA tidily maps to the uppermost line of a pedigree chart. Regarded from the perspective of a descendant tree, this means that men centuries removed from a potential common forebear at the top of a chart can test to confirm descent and earn a position at the bottom of the chart, even if the exact lineage cannot be ascertained through the paper trail. Women can also participate by enlisting the help of their father or a brother, uncle or appropriate male cousin. Of course, some test results cause the hopeful descendant to be bumped from the chart altogether, but even this is progress as it saves the researcher from years of trying to prove a blood connection that does not exist.

I was among these so-called early adapters who decided to use her family for experimental purposes. Recruiting participants from each of four Smolenyak lines who all hailed from a tiny, Slovak village, I tested to prove once and for all that we had a common ancestor. When the results came back, we all suffered from unlinking trauma as none of the four lines matched. Somewhat incredulous, but grateful to have avoided devoting several more decades to proving what was apparently a myth, I began looking for ways to use DNA testing to address other genealogical questions.

I quickly discovered that I was in new territory and very few of us have even pondered what else we might be able to learn, but I finally found some researchers taking baby steps in this direction. Although most such instances are so new that results are not yet available, I thought it would be useful to write about these ground-breakers because they are mostly dealing with scenarios that apply to some branch of almost everyone’s family tree.

Uncertain Parentage

While I found applications that might be categorized as ethnicity detection, history mystery resolution, and forensic identification, I felt that those most directly applicable to the greatest number of genealogists were cases involving uncertain parentage. It’s difficult to find a family history researcher who hasn’t at some point been frustrated by such circumstances which include instances of illegitimacy and casual or formal adoption, and somewhat less obviously, blended families involving multiple spouses. As you read about the following scenarios, I invite you to consider whether you don’t have a similar situation lurking in your family tree [1].


Those of us who have been genealogists for any period of time realize that illegitimacy is much more common than generally thought, or at least, was more prevalent in the past than many of us had imagined. Usually, encountering an illegitimacy brings a line of research to a screeching halt, most often by preventing us from learning anything about the father. The following are actual research scenarios where DNA testing might be able to break the impasse.

Scenario 1: Suspected Father

Mary Jo knows that her great-grandfather was illegitimate and is fortunate in that family lore has preserved likely surnames of the biological father: Strand or Strouse. For reasons that are no longer known, the mother’s parents would not allow her to marry the unborn child’s father and forced her to marry another man. Mary Jo researched census records for Strand and Strouse males in the appropriate timeframe and state where the birth occurred. She then used phone directories and other resources to locate descendants of these men still living in the area.

Mary Jo is obviously still confronted with a hurdle as she needs to deal with the rather delicate question of how to approach possible DNA test candidates who are strangers to her. But with some diplomacy and the watered-down sensitivity to family scandal that comes with passing generations, she just may find a few men willing to undergo Y chromosome testing to see if they are related. If she is especially lucky, she may find a fellow genealogist who is just as curious about the prospect of a previously unknown cousin as she is. Assuming she is successful in gaining agreement, she will also have to have a male in her direct line tested for comparison purposes. If a match is found, her family riddle will be solved.

Scenario 2: Suspected Pre-Marital Child

In my own research, I encountered the illegitimate birth of a child named Gregory in October 1824. In February 1825, his mother married a man named Alex Smolenyak and the couple went on to have four children. While it may be that Alex was a kind soul who stepped in to help a single mother, I have always suspected that Gregory was the pre-marital offspring of this same union. Perhaps, I theorized, Alex was away serving in the military and wasn’t able to get back in time to make an “honest woman” of his bride.

Until DNA testing became available, I had no means of ever discerning whether Gregory was Alex’s son or not, but now the possibility exists. I have already tested a couple of Gregory’s descendants and know his markers or allele values. Fortunately, his mother’s marriage produced another son named Jan, so I am now in the process of tracing Jan’s line forward to find prospects for Y chromosome testing to compare to Gregory’s line. Of course, obstacles remain. I may find that Jan’s line dries up in terms of eligible males for testing. And even if I find a candidate and a resulting match, I cannot rule out the possibility that Gregory was the son of a male relative of Alex’s, such as his brother (much like the Jefferson/Hemings case). But given a match and the marriage four months after Gregory’s birth, I would at least have a circumstantial case.

Scenario 3: Unknown Father

As part of my own village research, I routinely help other families from Osturna, Slovakia trace their roots and recently tripped across a common scenario. An extended family now numbering in the hundreds ties itself back to an ancestor named Paul who was born in 1844. Paul was illegitimate, and as is so often the case, no father’s name is given in his baptismal record.

After testing the various Smolenyak lines from this village, I opened our study to anyone with roots in Osturna. At a recent reunion, one of Paul’s descendants agreed to participate in our study. Osturna is still rather isolated today and only sports about 50 surnames in its records. Since our project just recently evolved from a surname to village study, only seven of these 50 names are currently represented in our database, but Paul’s descendant may just match one of these seven. If he does, we will learn the family name of the birth father — and what would have been the name of all the curious descendants. And even if we do not find an immediate match, the likelihood increases as we continue to add to our surname representation.

Casual or Formal Adoption

Adoption has a similar effect on genealogical research to illegitimacy in that it frequently brings a line to a dead end. Whether we know of a formal adoption or have only heard family tales of such a situation, the information leaves us stranded in “what now?” territory. The following are early examples of researchers using DNA testing to try to knock down this particular brick wall.

Scenario 4: Casual Adoption Tale

Justin Howery began researching his roots about 30 years ago while still a teenager. According to Justin, “We Howerys (Howrys, Hauris, Haurys, Howreys) supposedly all descend from a single ancestor who lived circa 1400 in the Swiss village of Beromünster,” but his branch of the family had preserved a tradition that they weren’t really Howerys and had “just adopted a stepfather’s surname somewhere along the line.” More specifically, he had been led to believe that one of his paternal grandfathers (perhaps his third great-grandfather) was adopted and that his birth name may have been Hamilton.

While his research hadn’t shown any substantiation of the Hamilton connection, he thought that the tradition probably held an element of truth, as family stories so frequently do. So when assorted participants on the Howery mailing list began discussing Y chromosome testing, Justin was keen to join the forming study so he could at least prove the accidental-Howery aspect of the family tale. Unlike most of us who anticipate a match, then, he hypothesized that he would not match any others tested.

His opportunity to prove this theory seemed slender as only one other Howery followed through with the initial round of testing. As Justin explained in an Internet posting, “I was expecting a dramatic disconnect between my test results and those of my test partner. Then, with a heavy sigh, I would turn from Howery research and start looking for that elusive step-father.”

But Justin was astonished to discover that the two of them were a perfect match. As he puts it, “I now have the first real evidence that my descent is really through the Howerys . . . The test results of just two guys — albeit the right two guys — dramatically swept aside a lot of meaningless and irrelevant what-ifs.”

Scenario 5: Formal Adoption

Susan King, well known president and founder of JewishGen, Inc., which has done so much to help others find their roots, ironically knows very little about her natural ancestry on her mother’s side. This is because her mother was adopted.

Non-identifying information provided by The Cradle Society in Chicago stated that her father was a German immigrant, and a few years ago, she was able to have the adoption records unsealed by the courts in Cook County. All she was able to glean, however, was the name of the birth mother, Libbie Marks. Records at the time apparently did not ask for the name of the father if the child was born out of wedlock.

Susan’s mother was adopted by a German Jewish family, but there were no indications whether her birth mother, Libbie, was of the same heritage. Susan suspected as much, but was having difficulty picking up Libbie’s trail.

Using the DNA testing offered through JewishGen, Susan’s natural brother took the mitochondrial (mtDNA) test to seek matches for their mutual maternal line (note: Susan could have done the mtDNA test as well, but would not have been able to be tested for the Y chromosome). To date, four matches for her brother have been found in the Family Tree DNA database and three others were discovered in an Israeli database. All are linked to individuals of German Jewish origin, supporting Susan’s postulated ethnic heritage.

A brief detour is warranted here on the topic of mtDNA testing. Experts admit that mtDNA is the scientifically challenged stepsibling to male DNA testing for now. As more regions become available for testing on a commercial basis (and the cost of such testing drifts down to the range most genealogists would be willing to pay), the timeframe for results can conceivably be tightened. For now, however, while results can establish descent from a common female ancestor, they can usually do so only much more broadly than Y chromosome testing (unless the person’s mtDNA is rare, either by haplogroup or motif) — in other words, not within what many would consider to be a genealogically relevant time span.

Because of this, those who have already participated in both Y chromosome and mtDNA testing have likely found more exact maternal matches than paternal. And since more of us match in terms of mtDNA, it is somewhat less useful as a means of distinguishing various lineages. Scientists working for the U. S. military learned this, for instance, when testing the remains of ten servicemen from a recently discovered crash site. Mitochondrial DNA is frequently used as a tool for forensic identification in such situations because it is more plentiful and therefore apt to survive in degraded remains. When mtDNA testing was done to help identify the men from this particular crash site, three of the ten in this essentially random sample were found to match. While this is an extreme case, it demonstrates that under current testing parameters, mtDNA matches are not quite as genealogically meaningful as Y chromosome ones (except when used in differentiation cases as will be described in the multiple spouses scenario shortly).

Given all this, it’s not that surprising that none of those matching Susan’s family so far was researching Marks families. However, Susan now has evidence to support her hunch about her mother’s heritage, and as she points out, “It’s not much to go on yet, but if I can find a possible connection, testing that family and seeing if they match may be the only way to prove that we are blood relatives.”

Blended Families/Multiple Spouses

Another cause of confusion in many family trees is a multiple marriage situation. In the not-so-distant past when childbirth deaths were fairly common, many men had several wives. Likewise, other risk factors frequently left young women widows who did their best to remarry as soon as possible for practical reasons. Consequently, many of us have a legacy of multiple marriages to sort out. Once again, it appears that DNA testing might just offer fresh ammunition for attacking such situations.

Scenario 6: Blended Family

Returning to my Osturna village study, I have a blended family situation that has defied unraveling through traditional research. Just around 1787 when the church records for Osturna started, a young widow named Anna Kanjuk Smolenyak married a man named Jan Vanescko. As they merged their households, children from both Anna’s first marriage and this second union — who were born as either Smolenyak or Vanescko — casually bounced back and forth between the two surnames in the ensuing records.

A priest who failed to provide house numbers for an extended period in the early 1800s complicated matters by making it difficult to follow each child with absolute certainty, but it appears that at least one child who had been born a Vanescko may have eventually settled on the Smolenyak surname. For this reason, when we had the four Smolenyak lines tested, our hypothesis was that this one line would fail to match the other three.

While we hadn’t expected the other three lines to disconnect, the Vanescko-disguised-as-a-Smolenyak theory for this one line is still alive and well. What remains to be done is to conduct additional research addressed at this specific situation. We already know the markers for Smolenyak males from this household, so we are now trying to locate an appropriate Vanescko to test.

This is proving to be a little challenging since none of the known Vanescko descendants from this house emigrated to the U. S. , so we are searching for candidates in Slovakia. A couple of lines still had male candidates born circa 1890-1900, so we are trying to track down their children and grandchildren, hoping to discover that they had some sons. Barring success in this attempt, we still have at least an outside chance of testing this theory as some American Vanecko families have begun to participate in our village study. If one of these should happen to match the Smolenyak associated with this household, it would be difficult to ignore such a “coincidence.”

Scenario 7: Multiple Spouses

One of the most interesting applications I’ve encountered is just in its planning stages, but provides an interesting example of how mtDNA testing can be used to resolve a family quandary. Keith Harris is dealing with a situation that applies to many of us.

He had an ancestor who was born in 1812 and lived in Tennessee. The family believes that he had three wives, but only knows the name of the third one. Keith explains that there are no church records and courthouse fires destroyed other papers, so hopes for the documentary trail are slim. However, Keith does know the name of the children as listed in the 1850 census, and fortunately, there are several daughters. He speculates that the mother listed in this census was the stepmother to the older children and the birth mother of the younger ones.

Keith hit upon the idea of testing the mtDNA of a female descendant of several of the daughters, especially the youngest and oldest, and comparing the results. If they all match, he can’t rule out multiple marriages (e.g., the possibility exists that the widowed father remarried to a female relative of his deceased wife or simply another woman of the same mtDNA haplogroup), but if they don’t match, Keith can be sure there was more than one wife. And the more daughters’ descendants tested, the more precise the assignment of children to the two or three wives can become. As Keith says, “even though I have limited hope of finding the surnames of the first wife or wives, it would give me more complete picture of the ancestors I’m researching.”

Where Do We Go from Here?

The seven examples given above are likely just the proverbial tip of the iceberg and represent only cases of uncertain parentage. Not even touched upon in this article are other intriguing possibilities pertaining to ethnicity detection (e.g., Native American, African-American, Crypto-Judaic, etc.), history mystery resolution (e.g., the Roanoke Colony study recently launched by Patrick Payne), and forensic identification (e.g., Korean War remains, Hunley descendants, etc.).

Still mastering the skills required for surname studies, very few of us have started playing with other possibilities yet, but it will inevitably happen. As it does, I expect and hope that at least one increasingly popular approach will be that of a village or community study. While it’s only natural that those venturing into the world of genetic genealogy would focus first on their own families, there is already an emerging trend of extending limited studies to larger groups of people (e.g., Irish clans, Melungeons, etc.) or an entire village. Chris Pomery’s site now lists six such projects underway.

As the group coordinator for a village study for Osturna, Slovakia, I already see advantages to such an approach, particularly for towns or villages that were small or relatively isolated. Many times the answers to genealogical questions reside in the DNA of our ancestors’ neighbors.

By extending our study from Smolenyaks to Osturnites, we anticipate being able to resolve a variety of previously unanswerable questions, such as the scenarios addressed in this article. Early results indicate that we may also be able to develop a more complete grasp of the pre-Osturna origins of our ancestors, as clusters are already appearing.

Our approach is to start with a snap shot of the village, in this case, the 1869 census which includes approximately 250 households. Over time, we will attempt to find a DNA sample to represent as many of these households as possible. Even in its infancy, such an approach has already revealed one unexpected connection and will presumably uncover many others. It also allows for cost-sharing since one man’s DNA can usually stand for numerous descendants associated with any one house.

And others are starting to speculate on the potential value of village or community studies. Justin Howery, for instance, whose casual adoption example was presented earlier, offers at least two situations in which such testing could prove especially enlightening:

“It seems to me that there are countless family legends about people who were illegitimate sons of royalty or nobility and that local gentry in the Middle Ages must have left a disproportionate number of illegitimate children, nearly all of which are now invisible without DNA testing. An interesting project would be to take a village where the local lords were resident for many generations and then test local families who’ve been in the same village for many generations. In other words, see if a particular Y chromosome is really spread across different surnames.

Along similar lines, it seems to me that Y chromosome testing will end up being very interesting when applied to Scandinavian families, where the surname changed each generation (e.g., in one of my lines, Pederson to Jonasson to Carlsson). Testing locals whose families have been in the area for generations could help group male lines into “clans,” which could lead to further avenues of research. For example, several of my Swedish lines can’t be taken back any further because it just isn’t clear which of the half-dozen people in the area — all with the same name — might be the one I’m seeking. Starting to identify other descendants of my same lines might open further avenues of research, just like looking to county histories for all the nephews, nieces, grandchildren, etc. because you never know which one might mention that little snippet of information that will let you take the whole line further back.”

Master Database

Finally, I would be remiss if I did not voice the fantasy of every genetealogist — that of a master database. At present, those receiving results can generally search the database of the testing company and some other databases and forums scattered across the Internet. It may be possible in a few years to query the BYU database that now stands at 30,000 samples from across the globe, but that is not yet a reality. Consequently, seeking matches beyond a deliberately tested scenario is both time-consuming and hit-and-miss.

Ideally, all the data from these assorted resources would eventually be gathered — or entered by zealous genealogists — into a master database for all of us to peruse. Justin Howery sums up the potential if this pipedream were ever to be realized when he says, “If the genealogical community would develop a single point database for genetic information, individual genealogists would surely find ways to use it to solve a zillion types of problems. “Yes, it sounds impossible, but then, how many of us imagined we’d be DNA testing our families just five years ago?


1. Due to sensitivities concerning some of these issues, some of the names used have been altered to protect the privacy of the families involved.

Genealogists Turn to DNA in Tracing Family Trees

by Margie Wylie, Newhouse News Service (Jan. 28, 2001). Syndicated in The Wall Street Journal (June 15, 2001) and The Denver Post (June 16, 2001).

About 15 months ago, Bennett Greenspan ran into an obstacle all genealogists eventually face: A dead end.

Certain that he’d found an Argentine branch of his family, but unable to uncover the documents that would connect the two clans, Greenspan turned to another kind of family record: DNA.

In recent years, scientists have discovered that the best-preserved genealogies are written in our genes. By examining mutations in DNA passed down for generations, geneticists have been slowly untangling the ancient family tree of man.

Now genealogists are using the same methods of DNA analysis to garner clues about their family origins.

Some, like Greenspan, use the tests to leap over gaps in the historical record or to resolve a family mystery. Others, their families decimated by the Holocaust, are attempting to reconnect with any family they can find. But many are simply being tested because they’re interested in their deeper origins.

Greenspan approached Dr. Michael Hammer, a University of Arizona geneticist famous for uncovering a DNA fingerprint — the Cohanim Motif — associated with men of the Jewish priestly class. Jewish tradition has it that all Cohanim are direct descendants of Moses’ brother Aaron. Hammer’s research found that many modern-day Cohanim do indeed share similar Y-chromosomes — the chromosome that determines maleness — which they inherited from a common ancestor.

Using similar analysis, Hammer was able to tell Greenspan that his two branches shared the exact same family genetic fingerprint, or haplotype, passed down from father to son. They were related.

But getting the testing done wasn’t easy for Greenspan. Although this type of DNA profiling has been around for some years, research geneticists skilled in performing it have generally turned away the public. They preferred to spend their time on the origin of the species, not the origin of the Smiths.

Hammer rebuffed Greenspan’s initial pleas.

But Greenspan, a semi-retired Houston entrepreneur, made a pitch: “I told him I would start a business. Handle all the e-mail, do all the marketing and pay his lab to perform the testing.”

Greenspan soon had a business plan on Hammer’s desk and last year, Family Tree DNA ( joined two other companies in the English-speaking world in launching genealogical gene testing.

Family Tree DNA tests cost from $219 to $319 each. Maternal lineage tests may be given to both men and women. These look at DNA from mitochondria, the energy source of the body’s cells, which both sexes inherit only from their mothers. Y chromosome kits can be used only on males to trace male lineage, for only men inherit the Y chromosome from their fathers. Women must test male ancestry through a male relative.

Clients brush the inside of their cheeks with a toothbrush-like swab, put the swab in a vial, repeat the process with a second brush and vial (to be certain there is enough DNA to test), and put the package in the mail. Results take about six weeks.

For privacy, Family Tree DNA keeps test results in a computer not connected to the Internet. In the lab, clients are identified only by a number. Those who join a “surnames database” permit Family Tree DNA to give their names and contact information to other clients with the same surname and an exact genetic match.

Greenspan is candid about the limitations. “Testing is only another genealogical tool. It can’t replace research,” he said. “You’re not going to know if someone is your great-grand uncle using this, but you will know if he’s related.”

For example, even when two men match perfectly on all 12 Y-chromosome markers, there’s only 50-50 chance that their most recent common ancestor is within 14.5 generations, an 80 percent chance of an ancestor within the last 34 generations, and a 90 percent chance of a connection somewhere in the last 48 generations. The only thing determinable with 100 percent certainty is an ancestor shared within the last 1,800 years.

That’s why some geneticists think DNA testing can’t tell genealogists much at this stage.

“I believe that the type of DNA profiling offered currently is very coarse and population(-based), rather than family-based,” said Peter A. Underhill, senior research scientist in the Stanford University Genetics Department. “However, the resolution will continue to improve as more genetic markers are identified.”

For instance, Underhill points out that some non-Jewish men in the Middle East probably share the Cohanim Motif, so it’s not unique.

But DNA testing told Justin Howery more than he expected. The 45-year-old Denver law student recently took the test with a Howery cousin expecting that they wouldn’t match. All his life he’d been told his grandfather was adopted, and since he was 15 years old he’d been searching for his grandfather’s natural family — the Hamiltons.

Imagine Howery’s surprise when his DNA matched perfectly with his cousin. “I probably wasted so much time just looking for a Hamilton connection that didn’t exist,” he mused.

He’s still not sure where his grandfather came by the Howery Y chromosome. Was the family legend just wrong? Or was his grandfather a child born out of wedlock and brought into the family? He may never know.

But he does know that he’s really related to the family whose name he shares.

Joseph Meszorer, 68, lost all his family in the confusion of World War I and the Holocaust of World War II. A passionate genealogist, the Polish emigre now living in Ontario had found only a handful of people with similar surnames in the United States and Israel, but could not connect himself to them. He jumped at the chance to compare his Y chromosome with that of David Meshorer of Virginia Beach, Va., a psychologist also interested in family history. They matched.

“When we established that we were (genetic) cousins, then I suddenly had this whole family,” Meszorer said. “For me, it was money well spent.”

The two men have become fast friends. Meszorer — who thinks the family connection may be in late 1800s Prague — keeps up with the family news of the U.S. Meshorers. And Meszorer, his wife and children are in the process of changing the spelling of their name from the Polish variant to Meshorer, because “we are family and family should have the same name,” he said.

Meszorer is even considering genetic testing of the bones of Meshorers he’s found buried in Prague.

It’s not unheard of. In England, geneticists matched the 9,000-year-old skeleton of the so-called Cheddar man against a school teacher living near the cave where the bones were found. The African Burial Ground Project is testing the remains of slaves buried on the site of a Manhattan office building and will compare them to the DNA fingerprints of modern Africans and African-Americans to shed light on the family histories of slave descendants.

Bryan Sykes of the University of Oxford in England has found that nearly all maternally inherited mitochondrial DNA in Europe comes from one of eight women. He’s made up names and fictitious profiles for them. For $180, Oxford Ancestors ( will test those of European descent to find out which “clan” they belong to. The service will also make up maps showing the concentration of a client’s clan in Europe.

Sykes has linked several different English surnames, including his own, with a Y-chromosome fingerprint. He found that many last names could be traced back to a single male ancestor.

Family Tree DNA, in addition to its Cohanim testing, has just begun offering a Native American test at a cost of $319. There are limitations: The analysis works only on women who have an uninterrupted maternal line back to a female Native American, and who carry the mitochondrial DNA of that native ancestor. If the test is positive, the company can identify one of five ancient haplotypes, but can’t tell the specific tribe nor identify which generation of ancestors was native.

Last year, the African Gene Project at Howard University promised to identify for black Americans the tribe and/or area from which their slave forebears were taken hundreds of years ago. The project opened and closed within a matter of months under a cloud of controversy. Some geneticists said that gene databases weren’t developed enough to offer the promised level of detail promised. Howard University officials didn’t return calls seeking comment on the current status of the project.

Gene Tree Inc. ( — a commercial gene lab in San Jose, Calif. — is compiling a “Y Chromosome Ethnicity Calculator” that can calculate a man’s probable ethnic heritage by comparing his Y chromosome markers with those of different racial or ethnic groups.

Ironically, the very genetic tests being sold as ethnic detectives form the underpinnings of research that concludes that, as far as genetics are concerned, there’s no such thing as race.

The undisputed pioneer of population genetics, Luca Luigi Cavalli-Sforza, concluded as early as the 1950s that differences in blood types and proteins were so slight among humans that any physical differences — nose shape, hair texture and skin tone, for instance — were due entirely to the evolutionary pressures of environment.

Genetic sequencing, developed since then, bears him out. DNA testing has found that every modern human being is remarkably similar. That’s because we are all descended from a tiny band of Homo sapiens originating in Africa over 100 millenia ago.

While all this genetic fingerprinting can be revealing, even fun, as it becomes more popular, it’s possible — some say probable — that people with little understanding of the complexities underlying the science may rely on tests to prove who are “real” Smiths, genuine Cohans, or who deserves to be called Native American.

That’s a concern, Greenspan acknowledged. But he argues that it’s no reason to curb testing.

Underhill agreed: “If specific people freely wish to know such information, they should have the opportunity to obtain such knowledge, just like any sort of genetic testing.”

Howery and Howry Families Linked by DNA Study

by Dick Eastman, Dick Eastman Online (Dec. 6, 2000).

I believe DNA testing will revolutionize genealogy research. Another example appeared this week. Fred Haury wrote the following:

DNA Y-Tests Link Hauri Families

Hauri genealogists used DNA Y tests to identify and link members of a large Y-linked (coined term) family. The Y-linked Hauri family consists of the Howery and Howry families of Virginia and Pennsylvania, plus the Froschauerhof, Bavaria Haury family. The specific branch links have not been identified by other records/methods.

In October 2000, Frederick Haury ( and Justin Howery ( submitted DNA Y test samples (to Family Tree DNA, 1919 North Loop West, Suite 685, Houston TX 77008) for analysis and comparison. On 15 November, Bennett Greenspan (, President of, notified them by e-mail: that they matched perfectly for all 12 sites on the Y chromosome, as compared by the lab. This represents a 99.9 percent probability that they share a common paternal ancestor, without any “non-paternal events” (scientific euphemism for adoptions or marital infidelities) in their paternal ancestry.

In 1711, religious/political refugee ancestors of Mennonite Jakob Haury’s (1718 Hamm, Bavaria-1789 Froshauerhof, Bavaria) Hauri branch migrated to Bavaria from Switzerland, with subsequent migrations to USA in 1800s. Justin’s branch departed Switzerland around 1700 and continued to Pennsylvania. A joint theory assumes a “Most Recent Common Ancestor” (MRCA) existed in Switzerland prior to the 1700 families exodus. The DNA Y-test match supports the theory, without proof thereof. The MRCA lived within the past 800 years, the probable time frame when a common ancestor selected the Hauri surname. This time frame also agrees with the Staatsarchiv des Kantons Aargau proposal that: “There is only one Hauri family, that originated in Beromuenster about 1400 (perhaps coming from Interlaken), and spread throughout Switzerland and southern Germany”. The theory does not imply that all HAURIs descended from a single family, but includes those identified by DNA Y tests and/or genealogy records.

Other Hauri men are encouraged and invited to submit DNA Y-samples for testing and comparison. Test results are solicited from French, German, Scott, and other national sound alike surnames such as: Hauri; Howrie; Howry; etc. which may document if surnames are Y-linked or resulted from separate individual surname selections. Tests may reveal differences of genealogical significance, and help identify and combine various Hauri family branches.

Test results for living members of other Beromuenster families could be significant. Some Beromuenster families may have common paternal ancestry with Y-linked HAURIs, but have other surnames. DNA tests may expand the ancestor tree, plus add information on arbitrary surname selection by ancestors.

How else can DNA tests be useful to genealogists?

HAURI sound alike surnamed individuals, plus others with an interest in, or having related information, may subscribe to the HOWERY@RootsWeb  mailing list. They also may contact Justin Howery at or Fred Haury at

Fred’s MRCA could be Jakob Haury’s (1718-1789) grandfather, making Fred an 8th generation descendant.

Bavaria Mennonite Jakob Haury’s family descendants are on GEDCOM files at

  • with related data on
  • and

Note: Fred Haury died in 2006. His data at RootsWeb has been removed.

Are We or Are We Not?

by Justin Howery, Genealogy-DNA-L (Nov. 17, 2000).

Howery DNA Project

After reading all the grand plans that other families have for doing a formal DNA project, I’m almost embarrassed to report the simple results of our Howery effort.

We Howerys (Howrys, Hauris, Haurys, Howreys) supposedly all descend from single ancestor who lived c1400 in the Swiss village of Beromünster. Although the main branch of the family is easily traceable through the excellent Swiss records, quite a few modern branches don’t know the precise details of their connection to the larger family. However, there is very little doubt that there’s only one family. (I should add, however, that we’re almost certainly an entirely different family from the Orcadian (Orkney) Howries and we are probably a different family from the Béarnese (France) Hauries.)

Some of us on the Howery mailing list had some preliminary discussions about DNA testing and four of us decided that we were interested enough to look into it. It didn’t take us long to settle on Family Tree DNA as the folks to do the testing. To make a long story short, one of the four of us backed out and one has dallied a bit. The two of us who went ahead with the testing got our results a few days ago. We matched on all 12 loci.

The result surprised and pleased the two of us who participated. My branch of the family left Switzerland around 1700 and came to America. The other guy’s family left Switzerland about the same time, went to Bavaria, and didn’t come to America until the mid 1800s. Theoretically, we were supposed to match, but I don’t think either of us expected to. First, there have been occasional suggestions that the Haurys in southern German might not have really come from Switzerland after all. (Pure nonsense, but some genealogists love to spin theories.) This particular theory suggested that the German Haurys just happened to adopt the same surname as a Swiss family. I think that my test partner might have harbored doubts about his connection to the rest of us.

I had my own doubts. My branch of the family has preserved a tradition that we’re not really Howerys; we just adopted a step-father’s surname somewhere along the line. My genealogical research hasn’t shown any indication that this happened, but I thought that the tradition might have an element of truth. Alternatively, there was some indication that my colonial Howry ancestors have been improperly identified with the Swiss family and that they were originally members of the Orcadian family with the same name. So, I was expecting a dramatic disconnect between my test results and those of my test partner. Then, with a heavy sigh, I would turn from Howery research and start looking for that elusive step-father.

However, we matched. In essence, the test results of just two guys — albeit the right two guys — dramatically swept aside a lot of meaningless and irrelevant “what-ifs.” I now have the first real evidence that my descent is really through the Howerys, and it’s now clear that the Virginia Howerys and the Bavarian Haurys have a common origin, an origin that must certainly be what the evidence has always suggested — a common descent from the Swiss Hauris. So, our little Howery DNA project gave us some very useful information. Finally, I can’t say enough good things about the lab we used, Family Tree DNA. They were uniformly supportive and professional, answering a zillion questions, listening to long rambling concerns, and going out of their way to keep us updated after we committed to the test.