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Understanding Haplogroups

 

    The Haplogroup database tells you about your deep ancestral origins. One way to think about Haplogroups is that a Haplogroup is a branch on the tree of Homo Sapiens and a Haplotype represents the leaves of the tree. All the Haplotypes that belong to a Haplogroup are leaves on the same branch.

    The Y Chromosome DNA test is a STR test, also known as Short Tandem Repeats. A SNP test of the Y Chromosome, which tests deep ancestral Markers, determines the Haplogroup. The Haplogroup database consists of the test results of participants in studies conducted and tested by Dr. Hammer at the University of Arizona. These participants had either a 12 Marker or 25 Marker Y Chromosome STR test, and a SNP test. Therefore, a search of the Haplogroup database looks for matches of your Y Chromosome STR test results, and predicts your Haplogroup based on the Haplogroup of the participants you match. A SNP test can be ordered to confirm your Haplogroup.

    The results from a search of the Haplogroup database not only provide information about your deep ancestral history, but the outcome can also be used to analyze Y Chromosome results.

    The SNP test is available, and will only confirm or deny the estimated Haplogroup. If it ever occurs that the Haplogroup is not confirmed, a participant should contact Family Tree DNA for a consultation regarding further testing to determine the Haplogroup.

    There are at least seven (7) systems in use in the scientific community for defining and naming Haplogroups. These various systems, which assigned different names to Haplogroups, often led to confusion. Depending on which system was utilized in the literature you read, Haplogroups had different names and definitions. To solve this problem, the Y Chromosome Consortium developed a new system to name Haplogroups and subgroups.

    The new naming system developed by the Y Chromosome Consortium was designed to easily accommodate expansion, as new Haplogroups are discovered. This new system identifies and names the current known Y Haplogroups that have been discovered.

    A Haplogroup is defined as all the male descendants of the single person who first showed a SNP mutation. A SNP mutation identifies a group who had a common ancestor far back in time, since SNP's rarely mutate. Each member of a Haplogroup would have the same SNP mutation as the common ancestor. These mutations are extremely rare, and identify a group of people over a period of tens of thousands of years.

    The Y Chromosome Consortium has defined 18 major Haplogroups, called A through R, using capital letters. Each of these major Haplogroups, which are also called clades, can have subgroups, which are called subclades. The 18 major groups at the top level, A through R, represent the major divisions of human diversity based on SNPs on the Y chromosome.

    Subgroups have a numeric name, which follows the Haplogroup name. For example, Haplogroup E has 3 subgroups, called E1, E2, and E3. There is also a subgroup E*, which are those that belong to Haplogroup E, but do not belong to one of the 3 defined subgroups, E1, E2, or E3.

    If a subgroup has subgroups, they would be labeled with a lower case alphabetic character, such as E3a or E3b.

    The new Haplogroup database at FamilyTreeDNA.com utilizes this new naming system developed by the Y Chromosome Consortium. On your search results page for Haplogroup, you will see the Haplogroup of those who match or are a close match to your Y chromosome test result. Depending on your Haplogroup search results, you will see Haplogroups such as I, J2, I1b, R1b. All Family Tree DNA explanations and terminology will utilize the emerging standard defined in the Y Chromosome Consortium paper.

    The Y Chromosome Consortium scientific paper, which describes the Haplogroup naming system, can be found at the link below:

    YCC Nomenclature System

    For a single page graphic representation of the Y Chromosome Haplogroup tree, please see the Haplotree.

    The results below compare your Family Tree DNA Y-DNA STR test with the world-wide database of Dr. Hammer. The Haplogroups shown were confirmed by SNP(Single Nucleotide Polymorphism) tests at Dr. Hammer's lab, which uses the YCC nomenclature. Haplogroups are a classification tied to deep ancestry (think 10,000 or 10's of 1000's of years) and are used in the human Phylogenetic tree. Please note that the countries in this database are the countries of the individuals that were tested. The purpose of the country information is to tell researches about migratory patterns, and should not be used to determine countries of origin.

    O2 Haplogroup O2 has two primary lines, the 465 line and the M95 line. Both lines are found in Asia. The 465 line is at high frequency in Japanese and Korean populations and at low frequency in east Asia. The M95 line is found in Southeast Asian populations (Malaysia, Vietnam, Indonesia, and southern China)

    R1 The undifferentiated R1 lineage is quite rare. It is found only at very low frequencies in Europe, Central Asia, and South Asia. This lineage possibly originated in Europe and then migrated east into Asia.

    R1a The haplotype R1a lineage is believed to have originated in the Eurasian Steppes north of the Black and Caspian Seas. This lineage is believed to have originated in a population of the Kurgan culture, known for the domestication of the horse (approximately 3000 B.C.E.). These people were also believed to be the first speakers of the Indo-European language group. This lineage is currently found in central and western Asia, India, and in Slavic populations of Eastern Europe.

    R1b Haplogroup R1b is the most common haplogroup in European populations. It is believed to have expanded throughout Europe as humans re-colonized after the last glacial maximum 10-12 thousand years ago. This lineage is also the haplogroup containing the Atlantic modal haplotype.

    J Haplogroup J is found at highest frequencies in Middle Eastern and north African populations where it most likely evolved. This marker has been carried by Middle Eastern traders into Europe, central Asia, India, and Pakistan.

    J2 T his lineage originated in the northern portion of the Fertile Crescent where it later spread throughout central Asia, the Mediterranean, and south into India. As with other populations with Mediterranean ancestry this lineage is found within Jewish populations. The Cohen modal lineage is found in Haplogroup J*.

    C3 The C3 lineage is believed to have originated in southeast or central Asia. This lineage then spread into northern Asia, and then into the Americas.

    I1b This subgroup of Haplogroup I is found within the Balkans countries at it's greatest frequency and diversity. These countries probably harbored this subset of Haplogroup I as a refuge during the Last Glacial Maximum.

    Copyright 2003 Genealogy by Genetics, Ltd.
    USAGE POLICY: Use of the above Haplogroup descriptions requires written permission from Genealogy by Genetics.