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DNA & Genealogy

January 2023

Recent analysis of genetic mutations throughout the ages has revealed a fascinating genealogical tool. National Geographic's "Genographic Project" provides a more detailed, interactive discussion of DNA genealogic research, and the International Society of Genetic Genealogy (ISOGG) has a nice site on Y-chromosome research.

October 2011

But here I'll only provide a layman's overview as it applies to our ancestors. Because DNA research is constantly evolving, this page will be in a perpetual state of construction.

Surname Y-DNA
Haplogroup
Summary
Goss Haplogroup I (M170) M168: East Africa (79,000-45,000 years ago),
F/M89: Middle East (45,000 years ago),
 • Ice Age (26,000-13,300 years ago),
I/M170: Balkans (20,000 years ago),
Northern Europe (Sweden)
Malugani Haplogroup R1b1 (P25) M168: East Africa (79,000-45,000 years ago),
F/M89: Middle East (45,000 years ago),
K/M9:  Persia (40,000 years ago),
P/M45: Central Asian Steppes (40,000-35,000 years ago),
R/M207-R1/M173: Europe (35,000 years ago),
R1b/M343: Southwestern Europe "Cro-Magnon Man" (35,000 years ago),
 • Ice Age (26,000-13,300 years ago),
R1b1/P25: Western Europe (10,000-12,000 years ago)
(Italy)
Fisher/
Fischer
&
Miller/
Müller
Haplogroup R1b1a1b (M269) M168: East Africa (79,000-45,000 years ago),
F/M89: Middle East (45,000 years ago),
K/M9:  Persia (40,000 years ago),
P/M45: Central Asian Steppes (40,000-35,000 years ago),
R/M207-R1/M173: Europe (35,000 years ago),
R1b/M343: Southwestern Europe "Cro-Magnon Man" (35,000 years ago),
 • Ice Age (26,000-13,300 years ago),
R1b1/P25: Western Europe (12,000-10,000 years ago)
R1b1a, R1b1a2/M269: Western Asia to southeastern Europe and into Western Europe (10,000-4,000 years ago)
Wargin Haplogroup R1b1c (P25+) M168: East Africa (79,000-45,000 years ago),
F/M89: Middle East (45,000 years ago),
K/M9:  Persia (40,000 years ago),
P/M45: Central Asian Steppes (40,000-35,000 years ago),
R/M207-R1/M173: Europe (35,000 years ago),
R1b/M343: Southwestern Europe "Cro-Magnon Man" (35,000 years ago),
 • Ice Age (26,000-13,300 years ago),
R1b1/P25: Western Europe (10,000-12,000 years ago)
R1b1c/P25+: Western Europe (Germany & Western Poland)
(Surname) mtDNA
Haplogroup
Summary
(Strozzi) Haplogroup T3 (mtDNA) L: East Africa (170,000-80,000 years ago),
L3: East Africa (104,000-84,000 years ago),
N: Eurasia (71,000 years ago),
R: Southwest Asia (66,000 years ago),
 • Ice Age (26,000-13,300 years ago),
T: Eurasia, Near East (10,000 years ago),
T3: Western Europe (Italy/Switzerland)
(Skrocka) Under Construction, June 2007 Haplogroup H
(mtDNA)

L: East Africa (170,000-80,000 years ago),
L3: East Africa (104,000-84,000 years ago),
N: Eurasia (71,000 years ago),
R: Southwest Asia (66,000 years ago),
Pre-HV: Near East/Middle East, especially Red Sea and Arabia (40,000 years ago)
 • Ice Age (26,000-13,300 years ago),
H: Near East, especially Turkey and Caucasus and into Europe (20,000 years ago)
(Galicia/Eastern Poland)

(Poole) Haplogroup
K1a1b

(mtDNA)
L: East Africa (170,000-80,000 years ago),
L3: East Africa (104,000-84,000 years ago),
N: Eurasia (71,000 years ago),
R: Southwest Asia (66,000 years ago),
U: West Asia (55,000 years ago),
 • Ice Age (26,000-13,300 years ago),
U8b'K: Northeast Italy (17,000 years ago),
K: West Eurasia, Near East, North Africa, South Asia (12,000 years ago),
K1a, K1a1
K1a1b

DNA Research

Y-DNA and mtDNA Transmission The first thing to grasp are the ways three types of genetic analysis apply to genealogy. The first is Y-chromosomal research. All males contain an exact copy of the Y chromosome that they received from their father. DNA mutation patterns in this chromosome record a complete genetic history of their paternal ancestry dating back nearly 80,000 years to a so-called "Y chromosomal Adam" in Africa. To isolate a direct maternal line, the X chromosome is not tested (because both mother and father contribute X chromosomes to daughters), rather non-chromosomal DNA from mitochondria (mtDNA), which dwell in the cytoplasm of the ovum, are used. An exact copy of mtDNA is therefore transmitted from mother to child, both male and female, but is only transmitted through the female line, thus revealing a complete maternal genetic ancestry back as far as 170,000 years to a so-called "Mitochondrial Eve" in Africa.

Of course, using the nicknames of "Adam" and "Eve" does not suggest that there was only one male and one female ancestor at these points in time, rather, of all the other thousands of ancestors that we had in prehistoric times, all had their direct Y-DNA and mtDNA lines go extinct over the millenia. For example, my first Goss grandfather in America had six sons, three of whom lived to father children, but after only four generations and around 70 grandchildren and great-grandchildren, the direct male line comes down to my brother and me--and we both have daughters. The Goss Y-DNA line will "daughter out" as did many thousands of other direct male and direct female lines have.

From the study of current isolated populations, DNA testing on ancient remains, including Egyptian mummies, analysis of migration patterns throughout history, and corroborating Y-chromosomal research conclusions with mtDNA research conclusions, a high-level picture of all Homo sapiens genealogy is forming. These genetic haplogroups are categorized and designated with letters such as "R," then as subsequent branches (clades) are identified they are arranged sequentially, such a R1 and R2, followed with sub-branches (subclades) to R1 of R1a and R1b, R1b1 and R1b2, and so forth. Each of these subclades is often followed by the designator of the specific genetic marker (such as marker "M269" for Y-DNA R1b1a2 and base pair "16526" for mtDNA U5a2) that defines the subclade. This way when the haplogroup subclades are rearranged and redesignated based on new information the markers will remain.

Autosomal DNA

Autosomal DNA refers to tests performed on the 22 chromosomes other than the the pair of sex (X and Y) chromosomes. Matches on these tests indicate that a common ancestor is shared but does not readily indicate who that ancestor is. Finding the common ancestor requires old fashioned genealogy work. More on the technical aspects can be found at www.isogg.org/wiki/Autosomal_DNA.

Most of the autosomal test kits that I manage (boldfaced below) are done through Family Tree DNA (FTDNA) with the lone exception of my own kit through Ancestry.com. All are posted to GEDMatch.com, which allows comparison with kits uploaded from Ancestry.com ("A" prefix), FTDNA ("T" prefix; formerlly "F" prefix), 23andMe ("M" prefix), and MyHeritage ("H" prefix). These kits have the following confirmed matches, grouped in Ahnentafel order. Names of the actual DNA contributors are not given publicly here:

Swedish and Scottish

New England

Northern Italian and Ticinese

Descendants of Primaluna, Italy, and Valle Maggia (especially Giumaglio, Coglio, and Someo), Switzerland.

German Baptist Brethren (Pennsylvania Dutch)

Polish

Polish immigrants who settled in Milwaukee and Ashland, Wisconsin, and the Iron Range in Minnesota.

Patrilineal Y-Chromosome DNA

As noted above, markers in Y chromosomes have been passed from father to son for thousands of years from an original common male ancestor. Over the course of several generations there occurs minor mutations in the Y-DNA called short tandem repeats (STR) of DNA neucleotide base pair sequences (such as the tripling of "CATG" to form "CATGCATGCATG"). These STRs are tracked at several locations (alleles) and tracable patterns classified as haplogroups.

Y-chromosome testing comes in three levels of fidelity: 12, 37, and 67 allele samples—the more samples the more precise a genetic match. These tests in turn yield a probability that you and someone who shares the same markers have a common ancestor within X number of generations. The more allele samples that are taken the higher the fidelity (as well as the price of the test!):

Allele
Samples
Matches (%) Generations
95% 90% 50%
12 12 (100%) 29 23 7
11 (92%) 47 39 17
37 37 (100%) 7 5 2
36 (97%) 10 8 4
35 (95%) 14 12 6
67 67 (100%) 6 4 2
66 (99%) 14 8 4
65 (97%) 14 12 6

For example, a perfect match on a 12-allele test puts you within 29 generations (95%) and perhaps as close as 7 generations (50%), whereas a perfect match on a 37-allele test will narrow that to between 7 and 2 generations.

"Y Chromosomal Adam," Haplogroups A and BT (142,000-70,000 years ago)

The hypothetical "Y chromosomal Adam" and most recent common ancestor (MCRA) of all living humans lived somewhere between 142,000 and 60,000 years ago in Africa. Two haplogroups branchs emerged: A and BT.

Haplogroup A descended from "Y chromosomal Adam" around 140,000 years ago possibly in central-northwest Africa (from Libya along the Mediterranean Sea to the Atlantic and south to Mauritania). Further descendants include A2-T.

Haplogroup BT emerged from A2-T between 80,000-70,000 years ago, possibly in western North Africa or central West Africa.

Haplogroups CT, CF, F, IJK; "Eurasian Adam" (68,500-38,700 years ago)

Haplogroup CT is a hypothetical paragroup that accounts for descendant paragroups DE (Asian haplogroup D and African haplogroup E) and CF, which is present in all remaining non-African populations. CT theoretically spawned from Haplogroup BT around 68,500 years ago, possibly in East Africa (Ethiopia and Sudan). Marker M168 is present in all Eurasian males and therefore has attributed to a so-called "Eurasian Adam."

Haplogroup CF is a hypothetical haplogroup that emerged from CT between 60,000-55,000 years ago, possibly in Southwest Africa, and accounts for descendant haplogroups C and F.

Haplogroup F (M89) is a major paragroup of five F subgroups and haplogroups G and H, and paragroup IJK. As such it accounts for 90% of all existing males (essentially all but Australian aborigines, some Asia-Pacific lines, and one line of Native Americans). This paragroup emerged between 55,700-38,700 years ago (perhaps around 48,000 years ago) in Eurasia, possibly in Southwest Asia or South Asia. It is associated with descendants of "Eurasian Adam" who left Africa and began migrating to the Arabian peninsula and beyond. Its various descendant lines ultimately spanned the entire northern hemisphere.

Paragroup IJK either descends from or is a brother to Haplogroup F and likely emerged around 45,000-40,000 years ago, possibly in Southwest Asia.

Two IJK-descendant macro-haplogroups that concern our lineage are Haplogroup I (M170) and Haplogroup R. Haplogroup I accounts for the Swedish Gustafsson/Goss family. Haplogroup R, specifically R1b and two of its subclades, cover the Italian-Swiss Malugani, Polish Wargin, and German Müller/Miller families.

Haplogroups IJ, and I (M170) (40,000-25,000 years ago)
(Goss)

Haplogroup IJ is a hypothetical group that emerged from paragroup IJK around 40,000-35,000 years ago, likely in Southwest Asia/West Asia/Middle East (Turkey, Arabian peninsula, and Iran). "Cro-Magnon Man" (37,500-30,000 years ago), who represents the first modern humans in Europe, has been affiliated with this group. The two main descendant Haplogroups are I (Europid) and J (Arabid).

Haplogroup I (M170) emerged 30,000-25,000 years ago, likely in Anatolia (modern Turkey) and moved into the Balkans (Greece, the former Yugoslavia, and Bulgaria) before migrating into southeastern and central Europe, and on to Scandinavia where our Swedish Gustafsson/Goss family originates.

Haplogroups K, P, and R (47,000-18,500 years ago)

47,000 years ago Haplogroup K (M9) split off from Haplogroup F (M89) and paragroup IJK and moved into Persia (modern Iran) and spread throughout the northern hemisphere.

From Haplogroup K (M9) came the hypothetical Haplogroup K(xLT) (M525), which was previously designated "MNOPS". As such it fills as the ancestor to haplogroups K1, K2, K3, K4, LT, and M, NO, P, and S.

Haplogroup K(xLT) refers to the K-series of subclades, M, NO, and P, but not LT, which has since been elevated to be a brother group to K(xLT). The ancestor of these lines is believe to have lived between 45,000-35,000 years ago in South or Central Asia.

From K(xLT) descended Haplogroup P (M45) which emerged 41,000-27,000 years ago. P accounts for the patrilineal ancestors of most Europeans, nearly all Native Americans (North and South), and about two-thirds of Central and Southern Asia.

From there Haplogroup R (M207) arose in west Central Asia between 34,300-19,900 years ago (perhaps closer to 26,800 years ago). Then at the height of the last glacial age (around 18,500 years ago), subgroup R1 (M173) emerged and moved into Europe and split into subgroups, R1a, ancestors of proto-Indo-Europeans (India/Pakistan/Afghanistan, Central Asian steppes, Altaians, and East European Slavs); and our R1b (M342) subgroup of Western Europe, appearing in over 70% of Western European males. R1b migration correlates to Italic and Celtic peoples.

Haplogroups R1b1 (P25) and R1b1a2 (M269) (12,000 years ago to present)
(Malugani, Wargin, Müller/Miller)

From the Western European R1b came R1b1 (P25) that resettled in Western Europe after the last glacial age ended some 10,000-12,000 years ago. This widespread haplogroup and its descendants account for 70-90% of the Western European population, which interestingly includes both our Swiss-Italian Malugani family and Polish Wargin family.

R1b1 (P25) and R1b1a (P297) ultimately give rise to R1b1a2 (M269), which emerged between 10,000-4,000 years ago. This common haplogroup is found throughout Europe and includes our German Muller/Miller family.

Matrilineal Mitochondrial DNA (mtDNA)

Mitochondria dwell in the cytoplasm of cells and have their own DNA (mtDNA) that is separate from the other 99.99% of DNA in chromosomes. In the reproductive process, the mother contributes the ovum, including mitochondria, and one set of chromosomes; the father contributes another set of chromosomes and the two sets merge to produce a fetus. That fetus will carry both sets of chromosomes and the mother's mitochondria in every cell. As such, mtDNA is only passed matrilineally from mother to child and therefore traces a direct line from you through your mother and on through her mother's mother to a commom homo sapiens mother. mtDNA, however, mutates at an average rate about 2.4 times slower than Y-DNA so determining genealogical matches from among random matches is more difficult. An exact mtDNA HVR1+HVR2 match only indicates that a common grandmother lived within the last 56 generations (i.e. within the last 1,200 years), and that there is a 50% probability that she lived within the last 28-32 generations ago (i.e. some 600-700 years ago).

In mtDNA, mutative changes (single-neucleotide polymorphisms/SNP) between the four A, T, C, and G neucleotide bases (such as an "A" changing to a "C," the addition of a pair, or deletion of a pair) are compared to the Cambridge Reference Sequence (CRS) (Haplogroup H2a2a) and patterns are categorized into haplogroups.

"Mitochondrial Eve"

Between 170,000 and 150,000 years ago, "Mitochondrial Eve," the ancestor of all living humans lived in Southern Ethiopia or Kenya in East Africa.

mtDNA L3 (3594)

Very roughly about the same time and location as "Y chromosomal Adam", mtDNA L3 was formed in an East African woman some 104,000-84,000 years ago. Her descendants spread along the rim of the Indian Ocean (Haplogroup M/10400) and into Europe and Asia (Haplogroup N/10873). Descendants of "Mitorchondrial Eve" that had mtDNA L1 and L2 mitochondrial DNA stayed on in Africa.

Haplogroup N (10873)

Haplogroups M and N split off from Haplogroup L3 and gave rise to all other haplogroups outside of Africa. The mother who gave birth to Haplogroup N lived around 71,000 years ago. Interestingly, as evident from archeologic digs in Israel, some populations of Haplogroup N in the Near East show settlements of both Haplogroup N and Neanderthals in close proximity about 60,000 years ago.

Haplogroup R (12705)

As descendants with Haplogroup N spread into Europe and Asia some 66,000 years ago it split into three main groups: Haplogroup A in northeast Asia; Haplogroup R (12705) in the Middle East, Near-East, parts of Europe, and throughout Asia; and Haplogroup X, which scattered back into Northeast Africa, Europe, Asia, and the Americas. Haplogroup R is found to comprise 75% of European descendants.

Haplogroup T (10,000 years ago)
(Strozzi)

Haplogroup R (12705) split into subgroups spanning from parts of Europe all the way to East Asia. One of these subgroups, Haplogroup T, originated some 10,000 years ago in the Near East and is credited with starting neolithic agriculture-based civilizations in the Near East.

From Haplogroup T split subgroup T3 which spread throughout Europe but forming notable pockets in Germany and the British Isles. Our grandmother Maria (Strozzi) Cerini, as evident from DNA samples from grandson, descendend matrilineally from Haplogroup T3. Maria was born in the Italian-Swiss canton of Ticino.

Haplogroups U, U8, U8b'K, K, K1, K1a, K1ab, K1a1b (55,000-present)
(Poole)

Haplogroup U branched off from Haplogroup R about 55,000 years ago and spread throughout Europe, North Africa, the Near East, and northern Caucasus Mountain regions. Later U8 split into U8a and U8b'K, which emerged between 40,400 to 22,700 years ago, or perhaps as recently as 17,000 years ago, in northeastern Italy.

From U8b'K came Haplogroup K, which has been nicknamed "Katrina." This line is believed to date back to around 12,000 years ago and extended into West Eurasia, South Asia, and North Africa, with concentrations in the Levant (Syria, Kurdistan, Lebanon, Palestine, Israel, and Jordan). DNA has been found in remains of Pre-Pottery Neolithic B culture in southwestern Syria around 6000 BCE and in early farmers of Central Europe around 5500-5300 BCE.

K1 further descended from "Katrina" and one of the earliest known descendants was the hunter nicknamed "Ötzi" who was found frozen in the Ötztal Alps along the Austria-Italy border around 3255 BCE.

Following in sequence came K1a, K1a1, and K1a1b, to which Susan (Poole) Converse belonged, according to an mtDNA test from one of her grandchildren.

The history of K1a1b has yet to be told, but among the notable "cousins" to that line are the Ashkenazi Jews, "German" Jews who settled along the Upper Rhine (Oberrhein) as early as the 4th Century CE during the reign of Emperor Constantine. The Ashkenazi Jews expanded throughout Europe until being driven east from England (1290), France (1394), and Germany (15th Century) to Poland. Haplogroup K is found in 32% of Ashkenazi Jews with concentration in subclades K1a1b1a, K1a9, and K2a2a, which are seldom found among non-Jews.

Haplogroups R0, HV, and H (54,900-present)
(Skrocka/Sikorska)

Haplogroup R0 (formerly known as "pre-HV") emerged between 54,900 and 23,600 years ago in Asia and gave rise to Haplogroup HV (14766) between 30,000 and 25,000 years ago in the Near East and Caucasus region. It is around this time that "Cro-Magnon Man" (37,500-30,000 years ago), the first modern humans in Europe, outcompeted the Neanderthals who ultimately became extinct between 30,000-22,000 years ago. A 24,000-year-old Cro-Magnon human in southern Italy was found to belong to Haplogroup HV (now R0) in 2003.

Haplogroup H arose from HV between 30,000 and 25,000 years ago, likely in Southwest Asia and arrived in Europe between 25,000 and 20,000 years ago. Haplogroup H now is found in 40% of Europeans. Ongoing research of this haplogroup has identified 11 sub-groups and a further 12 sub-branches. Our grandmother Alice Blanche Sikorska, as identified through her grandchildren, carried Haplogroup H mtDNA from her ancestors in Eastern Poland.