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Presentation on theme: "People.howstuffworks.com/culture-traditions/genealogy/use-dna-testing-genealogy-research.htm Since some of us may not remember much of our high school."— Presentation transcript:

1 people.howstuffworks.com/culture-traditions/genealogy/use-dna-testing-genealogy-research.htm Since some of us may not remember much of our high school biology, a little “re-teaching” is in order before we begin.

2 There are two locations where DNA is found and both are of interest to genetic genealogists. Most of our DNA is found in the nucleus of the cell. It doesn’t matter if the cell is on your skin, in your liver, or lining the inside of your mouth. Our personal DNA is inside the nucleus of all types of cells. Another location is in the mitochondria (mitochondrion is singular) found within our cells which are the “power supplies” providing our cells energy. This DNA is called mitochondrial DNA and is generally referred to as mtDNA. Raymond had both types tested and each told a different story. His cells that were tested came from the inside of his cheek. Where is our DNA located?

3 With the exception of egg and sperm cells, humans have 23 pairs of chromosomes within the nucleus of our cells for a total of 46. When looked at under a microscope, they have somewhat of an X shape. One pair, referred to as pair 23, is structured differently based upon the sex of the person. In females, both are shaped like an X whereas males have one X and the other appears like a small Y. Eggs and sperms are each formed using one random unit from each pair. Because in females pair 23 has two X chromosomes, females can only add an X to the next generation but a male can provide an X or a Y. The presence of the Y causes the organism to be male. Each of the 46 chromosomes is made of a very long, single strand of DNA (deoxyribonucleic acid). Parts of this continuous strand are identified as molecular units called genes. Genes are the parts between noncoding or “junk DNA” that provide the instructions for the development and functioning of your unique body. Amazingly, all humans have DNA that is about 99.9% the same. This means that any two humans on earth have DNA that varies by less than 1/10 of 1%. Looking at the variations between all the people you know, it becomes obvious how important that small difference is.

4 Fertilization The egg, with its 23 chromosomes, does not contain just DNA in the nucleus of the egg cell. The egg also contains mitochondria which contain DNA that possesses a completely different DNA composition from that found in the 23 chromosomes. The sperm also contains 23 random chromosomes, one from each pair but pair 23 may have provided any given sperm with either an X or Y chromosome. Within the tail of the sperm are a few mitochondria, but they evidently do not make it into the egg at fertilization. When the egg and sperm combine, a new human is produced with the standard 46 chromosomes. If it is a male, the nucleus will contain the Y DNA unchanged from the father. Because no mitochondria came from the sperm, all the mitochondria will be from the mother. Two examples for clarification: Raymond will have a copy of Adrian’s Y DNA information in the nucleus of his cells but Reggie, since she is female, will not have inherited Adrian’s Y chromosome. But they would have exactly the same DNA in their mitochondria. Raymond and his son, Keith, will have exactly the same Y DNA as Adrian but Keith will not have the same mtDNA as Raymond since they had different mothers.

5 Y DNA follows from father to father back through time and the mt DNA follows mother to mother. Of course, you have lots and lots of genetic material that has come down through all your other family lines, but none of those come to you “tied in a neat, discrete bundle” to study as do the two mentioned above. It should be obvious why Raymond was chosen to provide the sample since he carried both the Y DNA and the mitochondrial DNA. Had one of his sisters been tested, only the female line could have been followed since none of his sisters has a Y chromosome!

6 So what is DNA? The entire DNA double helix is made up of four nucleobases (biological compounds) that bond or join together in very specific ways. These bases are called cytosine (abbreviated C), guanine (G), adenine (A), and thymine (T). C always bonds with G and A always bonds with T forming base pairs. Notice this in the diagram above. Sometimes an accidental change occurs in the pattern of our DNA. Maybe a C-G bond reverses itself and became a G-C bond. Maybe it gets left out, or a combination (for instance A-T) gets added. These are called mutations (polymorphisms) and are not reversible by the cell. Mutations can be harmful, beneficial or neutral. These changes get passed down to following generations whether we want them or not. Scientists have found that neutral mutations are of most interest to genetic genealogy because these changes occur at a steady rate, providing us with a “molecular clock.” A similar nonliving molecular clock can be found in radioactive atoms, for instance carbon 14 breaking down into carbon 12.

7 Because of the advances in understanding our DNA, science can now help us explore our ancestry. In fact, the organization Daughters of the American Revolution is considering allowing DNA evidence to be used as proof for joining their very conservative organization. The most common test used by those interested in genealogy looks at samples from the Y chromosome and is referred to as Y DNA. Since the Y chromosome for all humans comes only from the father, the DNA found in that chromosome is a direct link up the male side of a family (and therefore a surname). The information in Raymond’s Y DNA is the same as his dad’s as well has ALL his male Fortenberry cousins, uncles, and any other male in the direct line. For instance, David Faulkenberry, a many times great uncle who fought in the Revolutionary War and was a brother of our ancestor should have male descendants with the same Y DNA as Raymond. Way cool! Let’s look at Raymond’s results!

8 If you look in the first column you will see kit numbers. These refer to the specific DNA samples provided by male individuals. Raymond is kit number , and everyone in this particular group falls into haplogroup R which has been further divided into smaller groups. Raymond’s specific part of that haplogroup is R1b1a2 which has been given the designation R-M269. R-M269 is a single mutation on one specific place on the Y chromosome found in ALL men in haplogroup R1b1a2. A haplogroup is like a huge group of people across the world that have specific, accumulated neutral mutations common to the group. R1b is the most common haplogroup for men of European descent. See: Paternal Ancestor Name is the name of the ancestor furthest back in time that the donor wanted listed. The first name of the person that provided the DNA is not shown. Now the hard part! What do all the numbers mean? Notice in the column called kit number –MIN, MAX, and MODE. This refers to the minimum value, maximum value, and average value to be considered a related group. Generally, the more numbers that are the same from one person to another, the more closely related they are. Just remember that we are not necessarily talking first cousins here nor even within 100 years!

9 In 2004, a Fortenberry DNA Project was begun by a gentleman named Randall Fortenberry from Walla Walla, Washington. The purpose of the project was to prove or disprove genetically the connection between the surnames Fortenberry, Fortinberry, Falconberry, Falkenberry, Faulkenberry, Faulkenburg, Falkenberg, and any other variation of the spelling. This information is online through Family Tree DNA at Though we learned from “paper” research that our Fortenberry name was originally Faulkenberry and before that Falkenburg, it is really wonderful to have a way to definitely, irrefutably prove it! Above is a small portion of the information on the site that is of most interest to us. It took me quite a while to understand it, so please be patient as I attempt to walk you through it!

10 This map shows the movement of people and the development of the different haplogroups. While in central Asia, Haplogroup P split to form Haplogroup R that moved westward while Haplogroup Q moved further east and into the Americas. Haplogroup P

11 World map of most Haplogroups Raymond’s R1b is the most common Western European haplogroup and is shown in bright red.

12 Map of only Haplogroup R1b Geneticists have determined that haplogroup R1b, a subclade (subgroup) of R, arose around 30,000 years ago. The man who was the “founding father” of this group with the R1b marker was a direct descendant of the Cro-Magnon people of Europe who were the well documented cave painters.

13 Notice the vertical letters and numbers running across the top of the chart above the red line. Each is a tested location or marker on the Y-chromosome that has a potential for some variation from person to person. The first one listed is DYS 393. It refers to a specific location on the Y chromosome that is noncoding or “junk DNA” that over very long periods of time accumulates neutral mutations. These areas are called Y-STR markers. This is short for Y chromosome Short Tandem Repeats or points on the DNA where a short series of DNA code repeats. I know – this is getting confusing – stay with me! At location DYS 393, the repeated part has been identified as a “short, stuck together (Tandem) repeat” of AGAT (adenine, guanine, adenine, thymine). All men ever tested have between 9 and 17 repeats at this location. Someone with 9 repeats would have AGATAGATAGATAGATAGATAGATAGATAGATAGAT. Raymond and most of the others in the list have a repeat of the AGAT 13 times. The maximum value acceptable for this group can be 14 and there are two Fortenberry men that tested a 14 at this location. Every one of the different markers listed across the top is looking at repeating segments located in specific places on the Y chromosome, all with a specific varying range of repeats at that location.

14 There are various levels of testing one can have done based on the amount of money one is willing to spend. For Raymond, we requested a 37 marker test. The beginning level test looks at 12 markers and on the previous slide, two people within Raymond’s group requested that level. Two also requested 24. This is why some rows of numbers on the previous slide are not totally filled. In order to understand the significance of the matching numbers, below are Raymond’s first 12 of the 37 tested markers followed by 3 random people on public DNA sites with last names of Smith, Jones, and Simmons. The number of repeating segments have been lined up in a column. None of the other men matches Raymond more than 4 times out of 12. Raymond Someone named Smith Someone named Jones Someone named Simmons To the right are the 15 men grouped together with Raymond on the Fortenberry DNA site. When looking at the first 12 markers, it becomes obvious that their DNA is, in most cases, identical. Those not exactly the same are off by one number and are within the acceptable maximum for the group.

15 If you go to the website and choose Y – DNA Results from the top, you can view the results for everyone in the project, not just Raymond’s group. There are four men that match Raymond’s markers at ALL 37 locations he had tested. They are, without a doubt kin. One sample is from a direct descendant of the Revolutionary soldier mentioned earlier – David Faulkenberry, and I would like to digress a little. He is our g-g-g-g-g-uncle. It is absolutely amazing that after 250 years, the Y-DNA can be a perfect match! David Faulkenberry’s son, Jacob, requested a pension for his father’s time in service for the American colonies. A transcript of the original petition can be found in the Fortenberry book on pages The Battle of Hanging Rock was one in which he participated. Pay special attention to the wounds he received. If you do not have a book, the first part of the document can also be found at this website: This battle took place less than 15 miles from the area where the many Fortenberry families of Lancaster County, South Carolina were living during the Revolutionary War. With me in the picture for scale, it is easy to see why the area is called Hanging Rock. The whole area is full of strange, overhanging and precariously situated rocks!

16 Family Tree DNA provides a prediction for number of generations back to a common ancestor. Gene Faulkenberry’s direct ancestor was David Faulkenberry, the Revolutionary soldier. Since David Faulkenberry and our ancestor, John Fortenberry were brothers, we can count back to the common ancestor ( their father, Jacob Faulkenburg born about 1715) which is seven generations. Looking at the prediction of a common ancestor on the chart below, Family Tree DNA gives as estimate of 95.73%. Pretty cool! Back to the DNA!

17 Take a look at the last names of the men tested in Raymond’s group. There are surnames listed we have known are just different spellings for the same name. Fortenberry, Faulkenberry, and Falconberry are all obviously similar. Two interesting facts about those names: While doing research in Lancaster County, South Carolina for the Fortenberry book, the Faulkenberry family members we interviewed said they pronounced Faulkenberry as Fortenberry! We also found a deposition in the court records of Newton County, Georgia that really brought this home. In this 1850 document, John, born in 1769, stated “I thought my name was Faulkenborough but now currently called Fortenberry … I am called Fortenberry Forkberry & I answer to all of them.” In this ONE record his name is spelled Falkenberry, Forkbery, Fortenberry, Forkenbery, and Faulkenborough. Within Raymond’s group, one name truly stands out as different – Andries van Valkenburg. At first glance, it seems like an impossible connection. Andries lived in the Netherlands and was born about With the DNA evidence, it becomes obvious that we are related. The question is HOW! The explanation and probable answer will have to be given at another time since it is a very complex problem. As a teaser, please go to the following site, choose Dutch, Lotte as your voice from the pull down menu and type in Van Valkenburg and press play. If you know anything about Germanic languages, you may suspect what you will hear!

18 Raymond born 1945, NY Adrian born 1918, MS Ferman born 1886, MS Wm. Jackson born 1853, MS Burrel born 1820, MS William Jasper born about 1772, SC John Faulkenberry born 1740, Virginia Jacob Falkenberg born about 1715 Following is our probable line due to court records and Y DNA evidence. Hendrick Falkenberg born about 1680 Hendrick Jacobs Falkenberg born about 1645 Lambert Van Valkenburg born about 1614 in the Netherlands, emigrated to the colonies died in Albany, NY Lambert Dryskens Van Valkenberg born about 1570 in the Netherlands Andries Van Valkenburg born about 1540 in the Netherlands Raymond, Thank you for your DNA sample!

19 As mentioned before, mitochondria are small structures within our cells that provide, through chemical reactions, the energy necessary for cell function. Our mitochondria have specific DNA totally different in composition from the 23 pair found in the nucleus of the cells. The unfertilized egg contains mitochondria from the female and at fertilization, the few mitochondria in the tail of the sperm do not make it into the egg. Consequently, the only mtDNA in a fertilized egg is from the mother. This means everyone has mtDNA that follows a female line from mother to mother back through their own family tree. This means that the surname of the “donor” changes every generation. Genetic genealogists often focus only on the Y- DNA since it follows a family name; and because of this, many more people have had their Y-DNA tested than mtDNA. Because Wanda Werbicki was 100% Polish and the child of two Polish immigrants, the decision was made to see what information we could learn. Notice that the image of the mtDNA shows it as a circular structure.

20 As with the Y DNA, haplogroups are organized groups according to the location of mutations (polymorphisms) and have similar alphabetic designations. When researching mtDNA, one has to be careful that the information is about mtDNA and not Y-DNA. Not as much research has been done on mtDNA as related to genetic genealogy. The mtDNA Raymond inherited from the direct line of our Polish ancestry is Haplogroup J. So who in the family would actually have mtDNA Haplogroup J? Remember, it follows the female line only. Raymond – but not his children. Reggie and all her children, also the children of Cindy and Deborah Andie, her daughters and Jenny’s boys (but will not continue with their children) Terry, her children and any children of her daughters Linda, her children and grandson, Jack Barbara

21 Haplogroup J is shown in Yellow Haplogroup J first appeared 40,000 years ago and is considered one of the main genetic groups of the Neolithic (new Stone Age) expansion. It has been determined that they originated in the Fertile Crescent (today Turkey and Syria) and were probably the first people to begin domesticating plants, nuts, and seeds which provided a reliable food supply leading to the ability to support larger populations. Essentially, geneticists think Haplogroup J carried agriculture into Western Europe which allowed the means for the development of complex societies.

22 mtDNA haplogroup J originally belonged to a macrogroup with a designation of JT. Because the “founding mother” gave rise to both groups, they share a similar mutation (T16126C) that all their descendents have in their mitochondria.

23 A very interesting side story about using mtDNA to solve an old mystery! By using mtDNA testing, it has been irrefutably proven that the entire Romanov family was killed in July of No, Anastasia did not escape the fate of the rest of her family. Scientists were able to get DNA samples from the bones found in two graves in the area thought to have been the burial sites for the family. The question was – with whom could they compare the samples. Prince Philip, husband of Queen Elizabeth of England provided the DNA sample. He and Alexandra Fyodorovna, wife of Nicholas Romanov, both descended from the same female line. Prince Philip is the grandson of Alexandra’s older sister, Victoria. Because of this direct female connection, Alexandra and all of her children would have the same mtDNA as Prince Philip. Below are two links to read more about this interesting story. The Romanov Family

24 Unlike the large Y DNA that contains almost 60 million base pairs, the circular shaped mtDNA contains just under 16,600 base pairs. There are two areas of the circular mtDNA that are the areas studied for genealogy. They are areas in the non-coding (junk DNA) geneticists call HVR1 and HVR 2. HVR means Highly Variable Region. HVR1 locations are numbered HVR2 locations are numbered These regions will show mutations that have been passed down from mother to mother.

25 Though we did not have the entire mtDNA sequenced, I have been able to determine a more specific part of haplogroup J from information online. Within Raymond’s results are a few clues. Through further research about our mutations, I learned: The two major “defining mutations” of haplogroup J are C16069T and C295T. Haplogroup J is subdivided into J1 and J2. Defining mutations for J2 are C150T, C152T, and C195T. J2 can be divided into J2a and J2b. The defining mutation for J2b is C16193T That gets us to Haplogroup J2b. According to current research, J2b makes up a very small percent of the entire J group. Looking at the figures for only Europe, the population contains under 1% of our particular mtDNA J2. Above are the specific mutations in our mtDNA. The C, T, A, and G, once again, refer to cytosine, thymine, adenine, and guanine that make up the paired nucleobases. The first one, C16069T means at that exact position on the DNA, instead of a C-G normally in that position we have a T-A bond. Other people in the world having similar mutations are more closely related to us than those who do not. The more common the mutations are between individuals, the closer the relationship. Only we are talking deep time here! “Closely related” on our test means within 28 generations or 700 years. Raymond’s mutations!

26 242926Эсман Клавдия J2b1a C16069T, T16126C, A16129G, T16187C, C16189T, C16193T, T16223C, G16230A, C16311T C146T, C150T, C152T, C195T, A247G, C295T, T489C, 522.1A, 522.2C, 309.1C, 315.1C Fedosiya Timofeevna Ievleva, b.1820, Ryazan region J2b1a C16069T, T16126C, A16129G, T16187C, C16189T, C16193T, T16223C, G16230A, C16311T C146T, C150T, C152T, T154C, C195T, A214G, A247G, C295T, T489C, 522.1A, 522.2C, 309.1C, 315.1C Raymond’s mutations! By looking on internet databases, I have found two people with mtDNA almost identical to Raymond’s. It should not be surprising that both are from individuals living in Russia. I will be looking for more “relatives.” From their data, it appears that we are not just J2b but J2b1a. I know that made your day! A couple of explanations: Notice that in four places, Raymond has a mutation site that contains a decimal. This means that at that specific location (such as 309), his mutation is the insertion (addition) of an extra base pair. So, in addition to the usual bond at 309, we have an extra one containing a cytosine/guanine pair. At location 522, he has two extra base pairs. He also has an anomaly identified at site 385 that should be an A-T bond. Instead, his mitochondria did not read the same A-T bond but had mixed data at this site. Evidently, this begins to occur as we age, is nothing to worry about, and is called heteroplasmy. His cells are making their own, minor mutations.

27 Wanda Wierzbicka born 1921 Antonina Cybulska born 1873 Pelagia Jaroszewska born 1898 Franciszka Jablonska born about 1850 Franciszka Goryszewska Born about 1825 Because of the lack of records in Poland, it is not likely that further “grandmothers” will be located. It has only been in the past few months as I have tried to read old Polish Catholic Church records that the surnames of Jablonska and Goryszewska have been added to our knowledge about the family!

28 Final comments and thoughts 1. If you are interested in learning more about the specific haplogroups and sub-clades, please follow the links provided in this document or Google the topics. 2. It would be really interesting to locate other men (surnames) in our family tree to test. Examples might be direct male descendants of William Eli Simmons, John Martin Covington, John Ellzey, Fleet Magee, and Asa Washburn, just to name a few. 3. It would even be possible to determine more mtDNA origins by locating direct female descendents of Canolia Simmons, Elizabeth Covington, Eliza Jane Ellzey, or other mothers in our line. 4. Genetic genealogy is an emerging field of study and as scientists learn more, the knowledge will be expanded. Take a look at the National Geographic sponsored Genographic Project that has done more than any other organization to collect and decipher the genetic information from many people including indigenous groups around the world. https://genographic.nationalgeographic.com/https://genographic.nationalgeographic.com/ 5. Though not directly kin, the Gypsies of Poland (Roma Polska) have one of the largest groups (by percent) of mtDNA J. Many of them are members of J1, while we are more closely related to people with the J2 mutations. Wanda would have liked being related to them; whereas her mother, Pauline, would not. A hundred years ago in the small villages of Poland, children were taught to fear the Roma culture and believed they would steal children from families. It is amazing how our perceptions change with knowledge. 6. Of course, our DNA is much more complex than these two lines discussed here. Our DNA is a mixing of all our many great …. Grandparents that came before us! One fact we cannot avoid accepting - we are a product of those who came before us.

29 Anonymous


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