Dashing Detective
How Russians dispose of their genetic material
Tatiana Pichugina
Genetic tests have made the world of molecular genealogy accessible to everyone. People find lost relatives, reveal family secrets, explore the family tree. How to find out about your origin and expand your family circle – in the material of RIA Novosti.
DNA will solve family disputes
"We found a fourth cousin niece. Her grandfather is the brother of my mother's second cousin, whose traces have been lost," Muscovite Valery Rudnev tells RIA Novosti.
In 2013, Valery learned that abroad it is possible to order a genetic test that determines predisposition to various diseases, and also gives an idea of national origin. When I saw the list of alleged "relatives", I got carried away and started "excavations". Relatives in the terminology of the molecular genealogists community are the people with whom the test shows the most matches. As a rule, this is a distant relationship through great-great-grandmothers, great-great-grandfathers.
"Most of my ancestors come from Eastern Europe, as do many Russians," says Valery and willingly demonstrates the reconstruction of his ethnic origin according to 23 pairs of chromosomes.
His entire family – eight people in four generations – underwent genetic testing. Inga's wife, a microbiologist by education, supports her husband's hobby. Thanks to DNA tests, she found out that her distant relative lives in the United States – a descendant of one of her great-great-grandmother's brothers.
Rummaging through the home archives, Inga found that he went overseas at the end of the XIX century. The American cousin was aware that she had Russian and Jewish roots, but the family thought that all relatives from The Old World died during the Second World War. The Americans were looking for relatives in a targeted manner, uploaded the test results to the database, recorded all the surnames that they had heard from the older generation, and waited for relatives to be found among the "coincident". So Inga came out to them, who recognized in the list the maiden name of her great-great-grandmother, heard from other family members.
"Distant relatives live in Moscow region, Riga, St. Petersburg. We started calling back, looking for documents, photos. Piecemeal collected the history of the family from the beginning of the XX century. At least, the rumors that someone's mother gave birth not to her husband turned out to be incorrect. Now we want to deal with another legend: that my great-grandmother allegedly gave birth to a Georgian gynecologist. Well, if so, then most likely he was a Jew," Inga jokes.
Reconstruction of the region of origin by DNA
© Valery Rudnev/FTDNA
How the DNA test works
"A person has 22 pairs of non-sex chromosomes (autosomes), a pair of sex chromosomes (XY in men, XX in women) and mitochondrial DNA (mtDNA). According to the peculiarities of the transmission of hereditary information , this set can be divided into two subgroups: 1) homogeneous markers – Y-chromosome and mitogenome; 2) non-sex chromosomes and X–chromosome/s," explains genomic blogger Sergey Kozlov, an active member of the Molecular Genealogy community, author of articles on population genetics to RIA Novosti.
In the first subgroup, hereditary information in the form of a Y chromosome goes strictly along the male line - from father to son, mtDNA – only along the maternal. The X chromosome, transmitted to children of both sexes from the mother, shows many ancestors. Autosomes – in general, the whole set of ancestors. From the farthest we get only pieces of autosomes.
"The vast majority of our hereditary traits are concentrated in the second subgroup, but it is difficult to extract information useful for genealogy from there, because without comparison with relatives it is impossible to understand what is received here from Irina's grandmother, what from Vasily's great–grandfather, and so on," Sergey continues.
In the Y-chromosome, repeating sections are isolated (short tandem repeats – STR markers). A certain set of these sites is called a haplotype. It indicates the region of origin. The more markers are read, the more accurately the haplotype is determined, and hence the location on the Y-haplogroup tree.
Haplotypes are combined into 20 haplogroups – large branches of humanity that exist on Earth today. They are denoted by Latin letters and numbers. They are derived from the conditional Adam – the common ancestor of all people, who, according to various estimates, lived from 80 to 275 thousand years ago somewhere in Africa.
The Y-chromosomes of Russians, Belarusians, Ukrainians, and Poles are mainly characterized by three haplogroups – R1a1, I2a, and N1c1.
Similarly, the genus (mitogroups) and branches (mitotypes) are usually determined by two sites in mtDNA transmitted through the female line: HVR1 and HVR2. All mitogroups lead to the conditional Eve, who also lived in Africa, about 180 thousand years ago. The ancestress founded 29 genera. The Russians most often have mitogroups H, T, J, U5a.
"By and large, haplogroups are a convention. There is a common tree-like scheme of kinship on the Y chromosome. Some branches (clades) of this tree have received their own names as separate haplogroups. But since new Y-chromosome mutations regularly occur, branching continues within each subgroup. The new branches are called subclades. Now they are gradually switching to a system where a "large" haplogroup is designated (R1a, R1b, N, I, E) and the name of the most "fresh" common mutation is added to it, marking a separate branch within this haplogroup. For example, subclades I1-M227 (found in the Scandinavian countries. – Editor's note) simultaneously belongs to haplogroup I1, as well as its parent I, IJ, IJK, F, CF, BT and so on," explains Kozlov.
Most often, people order a Y-chromosome test of male family members. Autosome and mtDNA analysis increases the chances of finding close relatives.
From documents to test tubes
"Many of my relatives loved to travel. I also wanted to visit neighboring Poland. But it is costly – a visa is expensive. In 2000, we learned that if you find Poles in the family, you can get a card that gives you the right to visa-free visits to Poland, and now the entire European Union. There was such a legend in the family. Why not give it a try? Therefore, in 2006, I settled into the archives. I didn't find any close Polish relatives. But the search itself fascinated me very much. The main thing is to find out the truth," Elena Korotkevich, a Minsk resident, a participant of the Molecular Genealogy forum, tells RIA Novosti.
At the IOP genealogical forum and in Odnoklassniki, Elena met the same enthusiastic namesakes from Of Russia. One wrote a detailed family history for posterity, the second made a family website. Their grandfathers lived in Belarus, but in different places. The Korotkevichi decided to find out if they were relatives.
However, it was not possible to establish kinship through the archives: many documents were destroyed in the wars that swept through Belarus.
At a meeting of IOP forum members, Elena learned from a geneticist that there is a solution to this problem – DNA tests. Her father and other Korotkevichi did a Y-chromosome analysis and got a negative result. So, just namesakes. Their common ancestor lived at least 2500 years ago.
It quickly became clear that the father's family had separated from the Poles about 700 years ago. "Bezviz" can not be obtained, but the family legend is confirmed.
Elena undertook to check another family story about her grandmother's uncle, Pavel Mikhalenko, about whom it was only known that he was a polar explorer. I quickly found out on the Internet that he was an honorary resident of Dixon (a settlement on Taimyr), in Soviet times he worked there at a geodetic station until his retirement. I left a request on a local forum, and two years later Mikhalenko's daughter responded to it. Soon Elena visited 98-year-old Pavel Yakovlevich, from whom she learned the amazing story of his life and took his DNA sample. This test helped to establish that the genus originates from the Chernihiv province.
Encouraging results
Elena pours professional terms – "snips", "haplogroups", "markers", "matches", "centimorgans", "chromosome browser". Opens its pages in databases, forums, shows diagrams, trees, lists of "relatives", explains in detail each character, filter settings and columns of numbers.
"You see? My father, together with Pavel Mikhalenko, has 113 matches (people with the closest match of markers. – Ed.). Children, parents, brothers go first, then second cousins and so on," she says.
The list includes Czechs, Poles, Belarusians, Russians, Ukrainians, and Swedes. Many of them exchange information about their ancestors and family traditions.
"My mother was suspected of having Parkinson's disease in 2012. She was very upset, refused to be treated. She said why spend money, it's better to die faster. I did a genetic test for predisposition to diseases, then they were not yet banned. The risk of Parkinson's, Alzheimer's, diabetes was low," continues Elena.
After seeing encouraging results, my mother began to be treated and is now communicating with her great-grandchildren.
"Maybe someone from my family thinks that, without collecting documents for the "Pole card", I spent time in vain. And for me, the main thing is that thanks to the test, I returned my mother's desire to live," Elena concludes.
Amateurs help criminologists
"The first is health data. The second is the story of visas and emigration. Third, children from orphanages and adopted children can find relatives. If a person does not know anything about his father at all – for example, his mother did not tell him, and now she is dead," Inga lists the practical benefits of DNA tests.
Elena, whose grandfather went missing in the Great Patriotic War, believes that it is necessary to test the remains in mass graves. This is expected by those who do not know the burial place of loved ones, where you can bring flowers, honor the memory.
Elena's father lays flowers at the memorial of those killed in the concentration camp. The city of Zeithain near Dresden. Pavel Mikhalenko's brother Stepan is buried here. © Photo : Elena Korotkevich
"Now similar tests are being done on a commercial basis in many countries of the world. If I'm not mistaken, there is even a ban on testing abroad in China. For the first time, this technique was used in the USA, apparently for the reason that it was the largest and richest market. Many manufacturers of genetic testing equipment are based there. The advantage of Russian companies over American ones is their proximity to our client," Sergey Kozlov notes.
Russian companies, such as Genotek, Atlas, do various DNA tests for individuals. The YFull service founded by Vadim Urasin helps to interpret the results of Y-chromosome tests. His data is used by the scientific community to reconstruct the history of individual genera of mankind, publishing the results in Nature-level journals.
The legal norms on the protection of personal data force us to regulate the work of such companies. Recently, in the United States, public genetic testing databases were used to solve three long-standing high-profile murders. With the help of DNA tests of criminals, the police calculated their next of kin. This case caused a discussion in society about how ethical it is to use such techniques.
"Of course, it's a little scary that the modern world is becoming more transparent. But what can you do, in the age of information technology, social networks and Big Data, you can't get away from this. Moreover, in this case, the information was used for a good cause. I think this is also possible in Russia," Sergey Kozlov sums up.
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