The mtDNA test uses information from the mitochondria, which is the material that surrounds the chromosomes. mtDNA is passed from a mother to her children, essentially unchanged. The mtDNA traces the maternal line, from mother to daughter to daughter to daughter, all the way down to the present person being tested.
All people who share the same "common ancestor" will carry essentially the same mtDNA. Fortunately, there are random and subtle changes that allow us to see differences in different "genetic families". Using these differences, scientists have been able to group all people into major branches called "Haplogroups". These can be arranged into a "family tree of woman" that shows the different branches that have separated over 1000s and 10,000s of years. Each person today can be assigned to a Haplogroup, which tells her (or him) their "deep ancestry". Haplogroup are determined by looking at mutations.
Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolutionary path of the female lineage has helped population geneticists trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread across the globe.
The letter names of the haplogroups run from A to Z. As haplogroups were named in the order of their discovery, they do not reflect the actual genetic relationships.
Specific mitochondrial haplogroups are typically found in different regions of the world, and this is due to unique population histories.
Mitochondrial haplogroups are not the same as Y-DNA haplogroups, although they use a similare alphanumeric name system. Your mitochondrial DNA haplogroup represents your direct maternal heritage. A Y-chromosome haplogroup represents a male's direct paternal heritage.
Your mtDNA results are compared to the Cambridge Reference sequence, CRS, the first mtDNA sequence to be completed. All mtDNA tests are now compared to a revised edition of it.. Where you have a different base in your sequence from the CRS a mutation is noted. Thus rather than provide you with a long letters we present your results as a much shorter list of locations on the CRS sequence and changes to the DNA or mutations.
Here are the origins of some mtDNA haplogroups:
A, B, C, & D: Native American Also see mtDNA Haplogroup X.
H: Predominantly European haplogroup that participated in a population expansion beginning approximately 20,000 years ago. Today, about 30% of all mitochondrial lineages in Europe are classified as haplogroup H. It is rather uniformly distributed throughout Europe suggesting a major role in the peopling of Europe, and descendant lineages of the original haplogroup H appear in the Near East as a result of migration.
HV: Primarily European haplogroup that underwent an expansion beginning approximately 20,000 years ago. It is more prevalent in western Europe than in eastern Europe, and descendant lineages of the original haplogroup HV appear in the Near East as a result of more recent migration. One of the dominant mitochondrial haplogroups in Europe, haplogroup HV pre-dates the occurrence of farming in Europe.
I: Principally a European haplogroup, detected at very low frequency across west Eurasia with slightly greater representation in northern and western Europe. Given its wide, but sparse, distribution, it is likely that it was present in those populations that first colonized Europe. This hypothesis is supported by the estimate its age—approximately 30,000 years.
J*: The original haplogroup J originated in the Near East approximately 50,000 years ago. Within Europe, sub-lineages of haplogroup J have distinct and interesting distributions. Haplogroup J* — the root lineage of haplogroup J — is found distributed throughout Europe, but at a relatively low frequency. Haplogroup J* is generally considered one of the prominent lineages that was part of the Neolithic spread of agriculture into Europe from the Near East beginning approximately 10,000 years ago.
J1b1: The mitochondrial haplogroup J contains several sub-lineages. The original haplogroup J originated in the Near East approximately 50,000 years ago. Within Europe, sub-lineages of haplogroup J have distinct and interesting distributions. Haplogroup J1b is found distributed in the Near East and southern Iberia, and may have been part of the original colonization wave of Neolithic settlers moving around the Mediterranean 6000 years ago or perhaps a lineage of Phoenician traders. Within haplogroup J1b, a derivative lineage haplogroup J1b1 has been found in Britain and another sub-lineage detected in Italy.
K: The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Haplogroup K is found through Europe, and contains multiple closely related lineages indicating a recent population expansion. The origin of haplogroup K dates to approximately 16,000 years ago, and it has been suggested that individuals with this haplogroup took part in the pre-Neolithic expansion following the Last Glacial Maximum.
L1: Haplogroup L1 is found in West and Central sub-Saharan Africa. Some of its branches (L1d, L1k, L1a, L1f) were recently re-classified into haplogroup L0 as L0d, L0k, L0a and L0f. Haplogroup L1 arose with Mitochondrial Eve and haplogroup L0 is an offshoot. The descendants of haplogroup L1 are also African haplogroups L2 and L3, the latter of which gave rise to all non-African haplogroups. Haplogroup L1 is believed to have first appeared in Africa approximately 150,000 to 170,000 years ago.
L2: Haplogroup L2 is native to sub-Saharan Africa, where it is present in approximately one third of all people. It is believed to have arisen approximately 70,000 years ago from the line of haplogroup L1.
L3: Haplogroup L3 is confined to Africa and emigrant African populations. It is most common in East Africa. However, L3 is also the haplogroup from which the macro-haplogroups M and N are believed to have arisen. These two haplogroups are ancestral to all haplogroups outside Africa, and are believed to represent the initial migration by modern humans out of Africa.
M: Haplogroup M cluster has been characterized as generally of east Eurasia—a geographic region that includes south Asia, east Asia, and Australasia. One of the two deep roots of the mitochondrial tree of haplogroups found in Asia, haplogroup M dates to approximately 70,000 years ago. Interestingly, one of the sub-haplogroups of the M cluster, haplogroup M1, is found primarily in northern Africa, suggesting either a very early divergence from the root of haplogroup M or even migration back to Africa after the original dispersal into Eurasia.
N: The N superhaplogroup has been characterized as pan-Eurasian. Haplogroup N is one of the two major trunks emerging from the original African root, and dates to approximately 65,000 years ago. Interestingly, several sub-haplogroups of the N cluster—haplogroup N1 and derivative lineages—have been detected in the Near East, suggesting either early divergence near the root of haplogroup N or subsequent migrations back towards western Eurasia following the original dispersal into east Eurasia.
N1c: N1c specific mitochondrial haplogroups are typically found in different regions of the world, and this is due to unique population histories. In the process of spreading around the world, many populations—with their special mitochondrial haplogroups—became isolated, and specific haplogroups concentrated in geographic regions. Today, we have identified certain haplogroups that originated in Africa, Europe, Asia, the islands of the Pacific, the Americas, and even particular ethnic groups. Of course, haplogroups that are specific to one region are sometimes found in another, but this is due to recent migration.
T: believed to have lived around 17,000 years ago in Nothern Italy. Tara's people would have come from the Near East, and her descendents spread all over Europe.
U2: found distributed in the Near East and Europe, though it is maintained a rather low frequency throughout. This sparse, yet widespread, dissemination, when combined with the presence of an allied haplogroup found in India, suggests that haplogroup U2 is very old, and was likely an early lineage of the super-haplogroup U, which arose greater than 50,000 years ago
U5: The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Haplogroup U5, with its own multiple lineages nested within, is the oldest European-specific haplogroup, and its origin dates to approximately 50,000 years ago. Most likely arising in the Near East, and spreading into Europe in a very early expansion, the presence of haplogroup U5 in Europe pre-dates the expansion of agriculture in Europe.
Haplogroup U5a1—a lineage within haplogroup U5—arose in Europe approximately 30,000 years ago, and is mainly found in northwest Europe. In the context of its rather ancient origin, the modern distribution of haplogroup U5a1 suggests that individuals bearing this haplogroup were part the initial expansion tracking the retreat of ice sheets from Europe.
U6: The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Haplogroup U6 is among the oldest of the U haplogroups with an origin approximately 50,000 years ago. It is a rare, but ancient haplogroup, and individuals bearing this lineage out of the Near East may have encountered Neandertals as they moved around what is now the southern Mediterranean basin. In modern populations, it is found at highest frequency in Berber-speaking populations of North Africa and the Canary Islands. Its presence in Portugal and Spain is the result of recent admixture most likely related to the Moorish occupation of Iberia.
U7: The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Haplogroup U7 has a Near Eastern origin approximately 30,000 years ago. Within Europe, it occurs at low frequency in the Caucasus.
V: Believed to have originated around the Western Mediterranean region, approximately 13,600 years before present- possibly on Iberia.
W: Appears in Europe, West and South Asia. It is everywhere found as minority clade, with the highest concentration being in Northern Pakistan.
X: Haplogroup X is found in Europe and Asia, and is believed to have migrated to the Americas about 15,000 years ago, making up a very small component of the Native American population.