|Introduction to DNA Testing as a Tool in Genealogy|
|Advances in DNA technology have provided us with some powerful new
tools to investigate our ancestry, especially with regard to lines that
have been difficult or even impossible to resolve using traditional genealogical
methods (now often called "paper" genealogy).
There are many ways to test and analyze DNA, but there are two particular kinds of DNA testing that are especially useful in genealogy: Y-chromosome DNA (Y-DNA) testing and mitochondrial DNA (mtDNA) testing. The genealogical usefulness of these two DNA tests is based on some special aspects of human inheritance:
1) that the Y chromosome is passed on only by the father,
Our inheritance is passed to the next generation via genes composed of an extraordinary substance known as deoxyribonucleic acid or DNA. Most of the genes coding for our inheritance exist inside the nucleus of our cells and are thus called, nuclear DNA. But some of our genes exists outside the nucleus, in the body of the cell, in small organelles called mitochondria and is thus called mitochondrial DNA — or mtDNA, for short.
Our nuclear DNA is in the form of genes gathered together as chromosomes, much like the beads on a string (at least, it's functionally practical for us to visualize them that way). These chromosomes exist in pairs. One chromosome of each pair came from our mother via the nucleus of her egg and the other came from our father via the nucleus of his sperm. In contrast, because the mitochondria exist outside the nucleus, floating in the body of the cell, we inherit mitochondria only from our mother's egg.
Our genetic gender is determined by one special pair of chromosomes called the sex chromosomes. Unlike our other 22 pairs of chromosomes, called autosomes, the two sex chromosomes are not equal in size. One of them is normal in size, but the other is a little stub, very much smaller than any other chromosome. By convention, these two sex chromosomes have been labeled the X-chromosome, for the normal-sized one, and the Y-chromosome, for the stunted one. If your pair of sex chromosomes is XX, you will be genetically female; if your pair of sex chromosomes is XY, you will be genetically male.
Because your mother has two X-chromosomes and, thus, no Y-chromosome, you cannot inherit a Y-chromosome from her. You can only receive a Y-chromosome from your father, in which case you will be a son. If you inherit your father's X-chromosome, you will be female. (This phenomenon has led to the statement that "the father determines the gender of the child," which is essentially true because the gender of the child depends on whether the sperm fertilizing the egg is carrying an X-chromosome or a Y-chromosome.) The fact that only males have Y-chromosomes means only males can participate in Y-chromosome DNA studies. But why pick the Y-chromosome?
Before a sperm and egg join, the number of chromosomes each carries must be cut in half, otherwise the amount of DNA in our cells would double with each generation! This reduction of chromosome number takes place during the last cell division that produces the sperm or egg. In this "reduction" division1, the chromosomes in each pair first wind and twist around each other breaking into segments and trading pieces back and forth in a process called "crossing over" and "recombination," just before the chromosome pairs separate forming two gametes (two eggs or two sperm) from what was one cell.2 Therefore, the genes from our two parents' chromosomes are "mixed up" in the chromosomes we pass on to our children, and only half of each parent's ancestry is passed to each child. This mixing up of paternal and maternal genes provides the genetic diversity that makes life on Earth so capable of adapting, but it makes tracing ancestry via genetics extremely difficult. There is, however, an exception to this "mixing up" process.
Because the X and Y chromosomes are so different in size, they do not engage in crossing over or recombination during cell division, so their genes are not mixed up. This means that men pass their Y-chromosome on unchanged from father to son, down through the generations (except for rare mutations). The relative constancy of the male Y-chromosome is the basis for using it as a tool in genealogy because we can identify males who have a common patrilineal ancestor by the similarity of their Y-chromosomes. As it happens, chance mutations on the Y-chromosome, while rare, happen just often enough to be useful to genealogists.
We can't use the female X-chromosome in the same way because, even though it doesn't engage in crossing over with the Y-chromosome, females have two of them: one from their father and one from their mother, so the inheritance of X-chromosomes is not in a direct matrilineal line, but can zig-zag between father and mother. This is where mtDNA testing comes in...
Both males and females have mitochondrial DNA because mitochondria are essential to life3, so both males and females can take an mtDNA test. Still, both genders inherit their mtDNA only from their mother, because it's transmitted in the body of the egg, not in the nucleus of the egg or sperm. Like the DNA in the Y-chromosome, the DNA in mitochondria is passed on unchanged (except for the rare mutation), so mtDNA analysis can reveal ancestry on your matrilineal line.
|Patrilineal and Matrilineal Lines — two
Between the two tests — a Y-DNA test and an mtDNA test — only two of your many ancestral lines are being tested, that is, either an unbroken chain of male ancestors or an unbroken chain of female ancestors, and any one person has only one each of these lines. All the rest of your ancestral lines zig and zag between males and females, so these lines cannot be revealed with your test results alone. To test all your ancestral lines, you need to share results with others whose ancestry you share. For example, to test your mother's patrilineal line, you need to find and test a male relative of her father (e.g., a brother or uncle or male first cousin with that surname). By finding and testing cousins, you can eventually piece together a more complete picture of your genetic ancestry. And this is the reason sharing information is so important because, while you are depending on others to test surnames in your "zig-zag" lines of inheritance, they are depending on you to test yours for them.
Because males carry the unchanging surname, while the surname of females changes with every generation, there can be surname projects only for males. Technically, women have no surname. When they're born, they're given their father's surname, and when they marry, they're given their husband's surname. There is no name that follows the female line, so there can be no surname projects for females. I'll use my own ancestry as examples demonstrating why this restriction is so. My maternal grandfather's patrilineal ancestry is:
Johann Pieter STRAUB IBarring rare mutations, every man on this list (and their brothers) should have the same Y-chromosome, so organizing the study of their Y-chromosome DNA into a STRAUB Y-chromosome DNA Surname Project makes sense.
|mtDNA Haplogroup Projects
My own matrilineal ancestry is:
Mary NEWGATEBarring rare mutations, every female on this list (and their sisters and brothers) should have the same mtDNA, yet there's no logical way to organize the study of their mtDNA by surname because the surname is changing with every generation. For initial testing, the most logical group for a female to join is a regional one. In my case, the British Isles Project was the one to join because Mary NEWGATE was a New Englander with a presumed origin in England. Once test results are known, one can also join an mtDNA haplogroup project. I am mtDNA Haplogroup T1 ("Clan Tara"), as are all the women on my matrilineal line. My father is mtDNA Haplogroup H11 ("Clan Helena"), as are all the women on his matrilineal line (below):
Delilah Sampson GAULDINGKnowing your mtDNA clan is an interesting — I would say, "charming" — thing to know about oneself, but the time frame is too ancient to help you break down any "brick walls" in your genealogy. The mtDNA haplogroup test reveals the deep ancestry on your maternal line. There are a few uses of mtDNA testing that are genealogicall useful. For example, a non-match can be used to expose a hidden adoption in a group of purported siblings, so in that respect, it can solve a few kinds of more recent genealogical problems.
If you are getting an mtDNA test — which I recommend because, at the very least, it's a fun thing to do — by all means read Bryan Sykes's book, The Seven Daughters of Eve. It isn't a bestseller for no reason!
Lastly, patronymic surnames can be a special problem, especially for those with Danish ancestry because Danes were among the last in Europe to adopt surnames, and many of those surnames were patronymics (discussed on this page). It was for this reason that I used my maternal grandfather, not my father, as an example (above) for a Y-chromosome DNA surname project (i.e., because my father is a Dane whose patronymic starts changing with every generation, beginning with his third great-grandfather). The result of such late surname adoption is that a great many biologically related Danes have different surnames. Conversely, because those adopted surnames were often based on their father's given names, a great many Danes with the same surname are not closely related biologically. In such cases, DNA projects are best organized on a regional basis, which was my reason for opening the Danish Demes project.
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Facts and Genes
1A process called "meiosis" (pronounced my-O-sis), as opposed to routine cell division, a process called "mitosis" (pronounced my-TO-sis) — long-O in both cases. Meiosis involves a recombination of maternal and paternal chromosomes before then reducing the number of chromosomes in half to generate eggs and sperm for the creation of a new individual. Mitosis does not involve recombination and does not reduce the chromosome number because its function is to grow and repair the existing organism, not create a new one. The goal of meiosis is to generate genetic diversity; the goal of mitosis is to maintain genetic stability. Malfunctions in either process typically result in serious, often lethal, consequences.
2A process known as "gametogenesis" (pronounced ga-MEE-to-GEN-e-sis) — again, long O.
3Mitochondria carry on respiration (the burning of oxygen) in our cells. Their function is so vital to life that any disruption of them can lead to rapid death, and many deadly poisons act by disabling them (e.g., cyanide). Nature doesn't tinker with this vital gene, and its stability makes it useful for studying deep ancestry. In fact, if it weren't for two non-coding (i.e., non-functional) "hypervariable" regions, the molecule wouldn't vary enough to be genealogically useful, at all.