Haplogroups relate to our deep ancestry. Deep ancestry is not traditional genealogy: it is not for tracing family or confirming family linkages. Deep ancestry is a look at our ancient ancestral roots from tens of thousands of years ago and shows how all people living today are connected to an ancient ancestor who lived in Africa over 100,000 years ago.
Haplogroup studies have been around for many years in the scientific community. Many will remember seeing the traditional biology 101 textbook diagram (phylogenetic tree) which shows how all living organisms are connected:
A phylogenetic tree shows the evolutionary relationship of biological species believed to have a common ancestor. In a phylogenetic tree, each node with descendants represents the most recent common ancestor of the descendents.
Humans represent one branch of the phylogenetic tree of all living organisms. The human branch of the phylogenetic tree was built based on DNA, in particular, SNP markers found in human DNA.
Our Y-DNA, which is passed down from father to son, shows that the Y-DNA of every male living today can be traced back to a common male ancestor who lived in Africa over 100,000 years ago. He is often termed the “Y-Chromosomal Adam”.
Likewise, our mtDNA, which is passed down from a mother to her children, shows that all people living today shared a common female ancestor who lived in Africa over 100,000 years ago. She is often termed the “Mitochondrial Eve”.
The type of genetic markers used to build the human phylogenetic tree are called SNP (single nucleotide polymorphism) markers. SNP markers are found in both the mtDNA and the Y-DNA.
The main branches of the human phylogenetic tree are called “Y-DNA haplogroups”. The Y-DNA tree has approximately 18 main branches “Y-DNA haplogroups”, classified by the letters A to R. Each Y-DNA haplogroup has many further sub-branches (subclades), classified by numbers and letters i.e. J1a, J1b, J2a, J2b, etc.
The mtDNA tree has approximately 26 main branches “mtDNA haplogroups” classified by the letters ”A to Z”. Each mtDNA haplogroup has many further sub-branches (subclades), classified by numbers and letter, i.e. L1a1, L1a2, L2a1, etc. All people living today have descended from of the main branches of the human mtDNA phylogenetic tree.
By testing the SNP markers in your Y-DNA and mtDNA, you will be able to tell which branch of the haplogroup tree you belong to.
Of course, each main branch has further sub-branches or “subclades”. Once you know which haplogroup you belong to, you can then focus on your subclade through “subclade testing”. The Y-DNA Subclade is determined through the Y-DNA Subclade SNP test and Y-DNA Stand Alone SNP tests. The mtDNA Subclade is determined by testing all three regions of your mtDNA (HVR1, HVR2 and Coding regions).
Facts and Common Misconceptions:
Next, In Part II of this tutorial, we will go into detail about how to use the DNA Haplogroup feature of the database.