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1. What do I get when I test for the mtDNA at any of its levels? faq id: 333

   Testing your mitochondrial DNA (mtDNA) connects you with genetic cousins on your direct maternal line (your mother, your mother’s mother, etc.) and helps you understand your ethnic origins on this specific line. Because your mtDNA has been passed on to you generation after generation by your direct maternal ancestors, it offers the most exact information possible for this line.

   When you take an mtDNA test, you will receive a myFTDNA 2.0 account. This is a password protected personal page with the following information:

   • Matches - Once your mtDNA has matches to other results in the mtDNA database, you will see a list with the names, their e-mail addresses, and the level of matching, so that you can contact them and exchange genealogical information.
   • mtDNA Haplogroup - Your place on the maternal tree common to all people alive today. Your branch indicates the your deep ancestral origins.
   • Recent Ancestral Origins - Based on your matches, results pages include Ancestral Origins and Haplogroup Origins lists that provide hints of your direct maternal line's recent ancestral origins. The magnitude and content of the list will depend on the level of uniqueness of your sample in the database.
   • Maps - Several maps show both the locations of your matches' most distant known ancestors and the ancient migration paths of your distant ancestors.
   • Certificates - You will be able to print your individual report and certificate.

   Click here to order an mtDNA test.

   See also: The mtDNA User Guide.

   Here are screenshots from mtDNA results pages.

   mtDNA - Matches

   

   (+Click Image to Enlarge)

   mtDNA - Ancestral Origins

   

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   mtDNA - Migrations Map

   

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   Print Report and Certificates

   

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   Finding Your Roots Henry Louis Gates
2. What is the direct maternal lineage? faq id: 633

   Your direct maternal lineage is the line that follows your mother’s maternal ancestry. With the exception of yourself if you are male, this line consists entirely of women. It traces your mother, her mother, her mother’s mother, and so forth back to our shared common maternal ancestor. For genealogists, this clear line means that they can trace two or more descendants of a single woman many generations back and compare their mtDNA results with the expectation of a match. For those interested in deeper ancestry, tracing the modern geographic origins of exact matches means that they can discover the origins of their own line.

   Note that because mtDNA follows exclusively the direct maternal line, common ancestors between you and your matches on other parts of your pedigree are coincidental.

3. Will my mitochondrial DNA (mtDNA) results show me admixture percentages for ancestry from different lines? faq id: 2136

   No, because mitochondrial DNA (mtDNA) is inherited exclusively from your direct maternal line, it does not show admixture from your other lines. That is, you received your mitochondrial DNA from your mother, who got it from her mother, who got it from her mother, etc., and your results are traced for this specific lineage. This provides a highly accurate view of one lineage.

   Many people enjoy exploring the ancestry of other family branches by finding suitable proxies to test in their cousins and other relatives. Please see our inheritance chart for ideas.

4. How do I use mtDNA (mitochondrial DNA) to help with my recent genealogy? faq id: 2137

   To find connections in recent times, it is necessary to find and test multiple people who have suspected shared ancestry. You can do this by careful examination of traditional genealogical records. Making connections with people in genealogical and historic interest groups can also be helpful.

5. Why do mtDNA (mitochondrial DNA) matches include both men and women? faq id: 2138

   A mother passes on her mitochondrial DNA (mtDNA) to both her daughters and sons. Only daughters have the ability to pass it on to the next generation though. This means that both men and women can take the mtDNA test. You will then match both men and women.

6. How many generations back does mitochondrial DNA (mtDNA) testing trace? faq id: 2139

   Mitochondrial DNA (mtDNA) testing covers both recent and distant generations.

   • Matching on HVR1 means that you have a 50% chance of sharing a common maternal ancestor within the last fifty-two generations. That is about 1,300 years.
   • Matching on HVR1 and HVR2 means that you have a 50% chance of sharing a common maternal ancestor within the last twenty-eight generations. That is about 700 years.
   • Matching on the Mitochondrial DNA Full Genomic Sequence test brings your matches into times that are more recent. It means that you have a 50% chance of sharing a common maternal ancestor within the last 5 generations. That is about 125 years.

   Mitochondrial DNA testing at Family Tree DNA also includes haplogroup testing. Your haplogroup represents your ancestral origins thousands and tens of thousands of years ago.

7. How do I tell how closely I am related to a mitochondrial DNA (mtDNA) match? faq id: 2140

   The closeness of a mitochondrial DNA (mtDNA) match depends on the matching level. Matches at higher levels are more likely to be recent. The table below shows the expected time to a common ancestor with your exact matches. This time-span should be used alongside relevant genealogical information such as a known pedigree on the direct maternal line and geographic locations.

   Testing Level	Matching Level	Generations to Common Ancestor
   		50% Confidence Interval	90% Confidence Interval
   mtDNA	HVR1	52 (about 1,300 years)	—
   mtDNAPlus	HVR1 & HVR2	28 (about 700 years)	—
   mtFullSequence	HVR1, HVR2, & Coding Region	5 (about 125 years)	16 (about 400 years)

   Note: Higher testing levels (mtDNAPlus and mtFullSequence) include matching from lower testing levels. This means that someone who tests at the mtFullSequence testing level will have matching at the HVR1 level, the HVR1 & HVR2 level, and the HVR1, HVR2, & Coding Region level.

   mtDNAMatches
8. How do I find the genealogical connection with my mtDNA match? faq id: 2141

   The only way to find a connection with your match is by comparing your genealogies. In many cultures women changed names with marriage. Therefore, it is important to compare geographic locations alongside pedigree chart information and surnames.

9. Do all direct maternal (mitochondrial DNA) lineages trace to Africa? faq id: 2142

   Yes so far, all direct maternal (mitochondrial DNA) lineages of women alive today trace back to a common ancestor who lived in Africa 100,000 to 180,000 years ago. Further back, the mitochondrial lineages of homo sapiens connect with other hominid groups. Examples, of these groups are Denisovans and Neanderthals. These early groups left Africa long ago. Although their mtDNA has not been found in modern populations, we know their mitochondrial lineages from grave site remains.

   About 60,000 years ago, some homo sapien groups migrated out of Africa, while others remained. Our direct maternal lineages trace these migrations.

   The path that our ancestors took tells a story about human history. Testing one's own and relatives' DNA can help you understand both the diversity and commonalities of your part of the human story.

   Migration Map

   

   This map shows each of the major (backbone) maternal haplogroups' paths out of Africa.

   (Click image for full size.)

    

10. What is my direct maternal (mitochondrial DNA) ancestry? faq id: 2143

    The historic geographic origin of your direct maternal line based on your mitochondrial DNA (mtDNA) test results is described under the haplogroup section on your mtDNA - Results page.

    1. Login to your myFTDNA account. (https://www.familytreedna.com/login.aspx)
    2. Find the mtDNA menu on the top menu bar.
    3. Select the Results option.

    The Haplogroup section gives your haplogroup (tree branch) and the Maternal Origin section gives an overview of your geographic origin.

11. On which results pages of my myFTDNA account will I find information about my direct maternal (mitochondrial DNA) lineage? faq id: 2144

    There are several tools that will help you answer this question for your direct maternal line. While you are logged in to your myFTDNA account:

    • On your mtDNA - Results page, check the haplogroup name and description. This provides background to your historic ancestry and origins.
    • Check the mtDNA - Ancestral Origins page. This includes places where your DNA haplotype is found today. The places listed are influenced by more recent migrations.
    • Use the Matches Maps page to see a map of you and your match's most distant known ancestors and locations.
    • Use the names and e-mail addresses on your mtDNA - Matches page to reach out to your matches and ask them about their ethnic origins.
12. I am looking at my mtDNA - Ancestral Origins page. Why are so many different countries listed? faq id: 2145

    If you show many different locations for your HVR1 and/or HVR1&2 results on the mtDNA - Ancestral Origins page of your myFTDNA account then you likely have one of the more common result haplotypes for your haplogroup. The same hypervariable region (HVR) haplotypes within a haplogroup tend to be found in a range of countries in an area. This is influenced by political boundary changes and local marriage patterns.

    In cultures where women often leave their family and move to another village or tribal group, a wide geographic dispersal is expected. Some results are found often enough that they have spread out throughout a large region or a continent. If, for example, you match people from countries located throughout Europe, then you happen to have a DNA result that is found in all of these places.

    Moving to a higher resolution test, the Mitochondrial DNA Full Genomic Sequence test, will reduce the time to a common ancestor with your matches and reduce the number of potential places of origin.

13. From which "Daughter of Eve" do I descend? faq id: 2146

    The "Daughters of Eve" are named after some haplogroups, but the names are arbitrary.  The names usually begin with the same letter as the haplogroup name. We identify the haplogroup itself.

14. What are the parts of the mitochondrial DNA (mtDNA)? What are HVR1 and HVR2? What is the Coding Region? faq id: 2147

    Mitochondrial DNA (mtDNA) has two major parts, the control region and the coding region.

    The control region is often called the hypervariable region (HVR). Hypervariable means fast changing. In mitochondrial DNA, the control region is the fast changing part. The control region may be further divided into two Hypervariable regions, HVR1 and HVR2.

    • HVR1 runs from nucleotide 16001 to nucleotide 16569.
    • HVR2 runs from nucleotide 00001 to nucleotide 00574.

    The coding region (CR) is the part of your mtDNA genome that contains genes. Because it does contain some genes, the coding region is believed to be slower mutating than the control region. Often, the mutations that are found in the coding region are used to define haplogroups.

    • The coding region runs from nucleotide 00575 to nucleotide 16000.
15. What are mitochondrial DNA (mtDNA) haplogroups? faq id: 2148

    Mitochondrial DNA (mtDNA) haplogroups are the major branches in our common maternal lineage. Your haplogroup traces your branch on the maternal tree of humanity back to our shared ancestor in Africa.

    See also:

    • Genetic Genealogy Glossary, Haplogroup
16. What are mtDNA macrohaplogroups? What are supergroups? Are they the same? faq id: 2149

    Macrohaplogroups (sometimes called supergroups) are the foundation for a number of other haplogroups. They represent older shared ancestors on the maternal tree. Macrohaplogroups link together many of the more common haplogroups that are found today.

    For example, haplogroup M is found throughout Eurasia and is especially common on the Indian subcontinent. Haplogroup M is considered a macrohaplogroup because it includes the haplogroups D, C, E, G, Q, and Z as subclades.

    Note: Although mtDNA naming conventions are much like those for Y-chromosome DNA (Y-DNA), they are separate systems.

17. What version of the mtDNA Tree Does Family Tree DNA use? faq id: 2150

    We currently use the V14 version of Phylotree that was published in Behar et al. 2012, "A ”copernican” reassessment of the human mitochondrial DNA tree from its root." We have plans to upgrade to the V15 version as part of a coordinated effort with the National Geographic Genographic project.

    Source:

    • Behar, D. M., van Oven, M., Rosset, S., Metspalu, M., Loogväli, E.-L., Silva, N. M., Kivisild, T., Torroni, A., and Villems, R. (2012). A ” copernican” reassessment of the human mitochondrial DNA tree from its root. The American Journal of Human Genetics, 90(4):675-684.
18. What is the Reconstructed Sapiens Reference Sequence (RSRS)? faq id: 2151

    The Reconstructed Sapiens Reference Sequence (RSRS) is a mitochondrial DNA (mtDNA) reference sequence that uses both a global sampling of modern human samples and samples from ancient hominids. It was introduced in early 2012 as a replacement for the rCRS (revised Cambridge Reference Sequence). Because it is based on the likely modal haplotype of the common ancestor to both modern humans and such ancient groups as the Neanderthals, it shows an unbiased path back from any one modern mtDNA sequence to our distant common maternal ancestor.

    Source:

    • Behar, D. M., van Oven, M., Rosset, S., Metspalu, M., Loogväli, E.-L., Silva, N. M., Kivisild, T., Torroni, A., and Villems, R. (2012). A ” copernican” reassessment of the human mitochondrial DNA tree from its root. The American Journal of Human Genetics, 90(4):675-684.
19. What do my differences from the RSRS (Reconstructed Sapiens Reference Sequence) mean? faq id: 2152

    When we test mitochondrial DNA (mtDNA), your results are a list of the four bases that make up DNA, represented by the first letter of their name (Adenine, Thymine, Cytosine, and Guanine).

    Your results are then compared to the RSRS (Reconstructed Sapiens Reference Sequence). Where you have a different nucleotide in your sequence from the RSRS a mutation is noted. Rather than provide you with a long list of letters we, present your results as a much shorter list of locations on the RSRS sequence and changes to the DNA or mutations. 

    As an example, if the difference is listed in your chart, then at location 16187 instead of having the Thymine value that the RSRS does, your sequence has a Cytosine.

    Haplogroup - H
    HVR1 differences from RSRS A16129G T16187C C16189T T16223C G16230A T16278C C16311T	HVR2 differences from RSRS  G73A C146T C152T C195T A247G 309.1C 315.1C	Coding Region differences from RSRS A769G A825t A1018G G2706A A2758G C2885T T3594C G4104A T4312C T7028C G7146A T7256C A7521G T8468C T8655C G8701A C9540T G10398A T10664C A10688G C10810T C10873T C10915T A11719G A11914G T12705C G13105A G13276A T13506C T13650C T14766C

20. What are mitochondrial DNA (mtDNA) mutations? faq id: 2153

    Mutations are changes to your DNA code. They are natural copying errors. One analogy is to think of a copy machine that is making many copies of a page. Occasionally, it will make a mistake; an e might look more like an o, for example. This is a "mutation." If you then take that page with the o and copy it, it will pass on its "mutation" to all of its descendant copies.

21. Are some mitochondrial DNA (mtDNA) mutations more common than others are? faq id: 2154

    There are some mitochondrial DNA mutations which we see more often than others. One mutation which we find often in a number of different haplogroups is C16311T in the HVR1 result. This is a base pair in the mitochondrial DNA which seems to have mutated many different times in human history.

22. Why are some of my mtDNA (mitochondrial DNA) mutations found on other branches of the tree? faq id: 2155

    Some mtDNA (mitochondrial DNA) mutations are found throughout the mtDNA tree. This is because the same mutation has happened dozens or hundreds of times in human history.

23. As a genealogist, do I really need to understand all of this complex information about mitochondrial DNA (mtDNA) in order to use it for my research? faq id: 2156

    No, as a genealogist, you may focus on a few basic rules. These will allow you to use mtDNA (mitochondrial DNA) to assist with your traditional genealogical research on maternal lineages.

    • It is best if you begin your research with a plan. This is usually a comparison of two or more descendants of a female ancestor.
    • MtDNA works well for those who do cluster or collateral line research. This is where a genealogist researches not only their own direct lines but those of cousins and the people from the same small geographic region (town, township, hamlet, etc.).
    • MtDNA traces exclusively the direct maternal line. You need to test someone with the mtDNA of the female ancestor you are researching.
    • For reliable genealogical matches, you need the mtDNA full sequence.
24. What is a mitochondrial DNA (mtDNA) heteroplasmy? faq id: 2157

    Heteroplasmy is the presence of more than one type of a genome (in this context, mitochondrial DNA) within a cell or organism. Put another way, a heteroplasmy is when more than one result exists for the same position in a person's sequence.

    • If each result exists frequently enough in a person's mtDNA, then the sequencing process will detect both results.
    • Identifying a heteroplasmy can be subjective.
25. What percentage or amount of mitochondrial DNA (mtDNA) heteroplasmy is needed in order to be detected and reported by Family Tree DNA? faq id: 2158

    With Family Tree DNA's current next generation sequencing (NGS) technology, we report heteroplasmy at the 20% detection level.

    Note: Prior to April 2013, Family Tree DNA reported heteroplasmy at the 25% detection level.

26. How do I know if I have an mtDNA (mitochondrial DNA) heteroplasmy? What is the nomenclature? faq id: 2159

    You will know that one of your mutations or differences from the RSRS is a heteroplasmy by its letter codes.

    Symbol	Meaning		Symbol	Meaning
    U	U (Uracil)		S	C or G
    M	A or C		Y	C or T
    R	A or G		K	G or T
    W	A or T		V	A or C or G
    H	A or C or T		B	C or G or T
    D	A or G or T		X	G or A or T or C
    N	G or A or T or C

    Like other types of mitochondrial DNA (mtDNA) mutations, heteroplasmy is written with the original value, the location of the mutation, and the new (mutated) value. For example, a heteroplasmy at position 73 where the heteroplasmic values are A or G is written as G73R.

     

27. How common is mitochondrial DNA (mtDNA) heteroplasmy? faq id: 2160

    All mitochondrial DNA (mtDNA) mutations go through a state of heteroplasmy. The frequency of heteroplasmy is then equal to or greater than mtDNA mutation rates. Note that population geneticists usually calculate mutation rates using those persons with the descendant genome.

28. How do I know which of my heteroplasmic values is ancestral (original) and which is derived (new)? faq id: 2161

    To find which version of a heteroplasmic mitochondrial DNA (mtDNA) result is original and which is newer, you need to test other descendants of your direct maternal ancestor. The non-heteroplasmic variant that is most common across multiple descendants is likely to be the original state.

29. Is my mitochondrial DNA (mtDNA) mutation medical? How about mitochondrial heteroplasmy? Is it medical? faq id: 2162

    Family Tree DNA offers mitochondrial DNA (mtDNA) full sequence tests strictly for genealogy and personal ancestry information. Therefore, we do not examine or discuss medical implications of any person's mtDNA full sequence.

    In general, the medical or physiological impact of having a heteroplasmy is the same as that of having only the mutation at the same position. In other words, if you find that a mutation at this position is not known to be associated with any physiological issue, then the heteroplasmy is not, either. If you find that a mutation at this position is or may be associated with a physiological issue, then the heteroplasmy may potentially produce the same issue, or may produce a lesser form of it because not all of the mtDNA has the mutation.

30. Are the mitochondrial DNA (mtDNA) haplogroups predicted or confirmed? faq id: 2163

    The haplogroup designation provided with mtDNA test results from Family Tree DNA and our affiliates are confirmed by a twenty-two marker panel of Single Nucleotide Polymorphisms (SNPs), i.e., SNP testing.

    When we started in 2000, haplogroup predictions were not provided with test results. Looking up comparison data was not user friendly. To help our customers, we began providing comparison-based predictions. In 2005, we began running a FREE haplogroup test on every sample. Haplogroup testing is now part of every mtDNA test we run. Our panel of SNPs is the same one that was used in Behar et al. 2007. We are confident that this is well beyond what anyone else offers and is consistent with our dedication to scientific standards.

31. How do you perform mtDNA (mitochondrial DNA) tests? faq id: 2164

    Family Tree DNA currently uses next generation sequencing (NGS) technology to process all mtDNA tests. We use:

    • The Illumina MiSeq Platform
    • At greater than 2000X coverage

    Note: Prior to April 2013, Family Tree DNA performed mitochondrial DNA (mtDNA) tests by direct (Sanger) sequencing.

32. Why don't I have HVR1 matches? faq id: 2169

    You are the first person with your particular HVR1 sequence to be in our database. This can mean that your result is relatively rare and that, as a result, few people have it. It can also mean that no one else from your particular lineage has happened to test yet. The good news is that the database is constantly growing. The system will continue to search for matches for you whenever new results come in, and we will notify you by e-mail when a new match arrives.

33. Why don't I have HVR1&HVR2 matches? faq id: 2170

    If you do not have HVR1 matches, you will not have HVR1 and HVR2 combined matches. This is because anyone who is a high resolution match has the same HVR1 result as you and is by definition also a low resolution match. You will also not have high resolution matches if you have not tested your HVR2 region, or if none of your low resolution matches have tested the HVR2 region. Your HVR1 matches who have tested HVR2 will have (HVR2) next to their name.

    As our database grows, the system will continue to look for high resolution matches for you, and we will send you a notification e-mail when a matching result comes into our database.

34. Why do I have many mitochondrial DNA (mtDNA) test matches? faq id: 2171

    Some mitochonrial DNA (mtDNA) haplotypes show a high number of matches. There are two possible explanations for this.

    • Many people with the same results as your ancestors lived thousands or tens of thousands of years ago. The majority of their descendants still carry their signature.
    • A more recent common ancestor - within the last one or two thousand years - with this haplotype had many daughters who in turn had many daughters and so on leading to you having many distant cousins.

    Increasing your testing level to the Mitochondrial DNA Full Genomic Sequence, the HVR1toMega or the HVR2toMega upgrade, will separate these two cases. This will allow you to focus on your relevant matches.

35. What are mitochondria? faq id: 2172

    Mitochondria are specialized subunits (organelle) within cells. In humans, mitochondria are responsible for cell respiration and for producing energy. They evolved into their current state from separate organisms that formed a mutually beneficial (symbiotic) relationship with the larger cell. Because they were once independent, they have their own mitochondrial DNA (mtDNA) genome. This genome is passed from human mother to child.

36. Is the mitochondrial DNA (mtDNA) genome completely independent of the nuclear cell genome? faq id: 2173

    No, it is not. Over time, some of the genetic code from the mitochondrial genome has migrated to the nuclear cell genome. However, enough mitochondrial genetic code remains independently inherited to make mtDNA highly useful for both population genetics and genetic genealogy where a clear maternal lineage is needed.

37. Why do we inherit only our maternal mitochondria? faq id: 2174

    Male sperm contain paternal mitochondria. After cell fertilization, the paternal mitochondria are eliminated from the newly formed zygote.

38. How do mitochondrial mutations occur? faq id: 2175

    Every human cell contains hundreds of mitochondria. Each mitochondria in a cell contains multiple copies of its own DNA (mtDNA). A new mitochondrial mutation occurs in only one copy of the mtDNA in one mitochondria in one cell. Depending on the location of that cell, the new mutation may become more common in the individual over their lifetime. If it occurs in a woman’s egg cell, it has the potential to be passed on to future generations.

39. Are all of a mother’s new mitochondrial DNA (mtDNA) mutations inherited by children? faq id: 2176

    No, mothers only pass on those mitochondrial DNA (mtDNA) mutations they inherited from their mothers and new mutations that occur in their eggs. Mutations that occur elsewhere are not inherited.

40. How does the formation of the human egg cell change the frequency of a mitochondrial DNA (mtDNA) heteroplasmic mutation? faq id: 2177

    At one point during the process by which the egg cell is produced (oogenesis), the number of mitochondria present in the cell is dramatically reduced from hundreds to perhaps as few as ten. These copies then multiply back into the hundreds in the offspring's cells. If one or several of these ten happen to have a mutation, then the child will begin life with similar proportion of each variant in her or his mitochondrial genome.

41. How is mitochondrial DNA (mtDNA) heteroplasmy inherited? faq id: 2178

    In each generation, it is possible for the child to inherit the heteroplasmic genome, only the ancestral genome, or only the descendant genome. Each generation, if the mother has a heteroplasmy, each of her children will experience any one of these outcomes:

    • The child has a heteroplasmy at the same position. The child inherited some mitochondria with the ancestral genome and some with the descendant genome. Thus, the child has some of each in his or her cells. The proportion of ancestral to descendant genome can vary in each generation and in each child.
    • The child has only the descendant genome. Only mitochondria with the mutation were passed on to the child. If the child is female, then her children will also inherit only the descendant genome. The new mutation is then fixed in her descendants.
    • The child has only the ancestral genome. Only mitochondria without the mutation were passed on to the child. If the child is female, then her children will also inherit only the ancestral genome. The new mutation is then lost in her descendants.

    Therefore, heteroplasmy may last for many generations. Between 15 and 70 generations is normal for humans. However, about 120 generations (3,000 years) are required for there to be a 99% chance that the new mutation has become fixed in the descendants who have it.

    Sources:

    • Ballard and Whitlock, M. C. (2004). The incomplete natural history of mitochondria. Molecular Ecology, 13(4):729-744.
    • Kumar, S., Tamura, K., and Nei, M. (2004). MEGA3: Integrated software for molecular evolutionary genetics analysis and sequence alignment. Briefings in Bioinformatics, 5(2):150-163.
    • Millar, C. D., Dodd, A., Anderson, J., Gibb, G. C., Ritchie, P. A., Baroni, C., Woodhams, M. D., Hendy, M. D., and Lambert, D. M. (2008). Mutation and evolutionary rates in adélie penguins from the antarctic. PLoS Genet, 4(10):e1000209+.
42. How are mitochondrial DNA (mtDNA) Haplogroups named? faq id: 2179

    In general, mitochondrial DNA (mtDNA) haplogroups are named according to their major branch with a capital letter. Subclades (branches) are then named with alternating numbers and letters; H, H1, H1a, H1a1, etc.

    • H
      • H1
        • H1a
          • H1a1
43. Are there exceptions to the alphanumeric naming of mitochondrial haplogroups? faq id: 2180

    Yes, there are two exceptions to the alphanumeric naming of mitochondrial haplogroups. The first is the use of a zero (0) in the name to indicate that a branch is being inserted between what was a parent-child branch point on the established published tree. The second is the use of an apostrophe (‘) to indicated that two established published branches are being joined together.

44. Where are zeros (0)s used in mitochondrial haplogroup names? faq id: 2181

    Zeros are used when a new branch point needs to be inserted above a well-established branch point on the mitochondrial tree. One of the best-known examples of this is the insertion of R0 between the R and HV branches.

    • R
      • R0 <--
        • HV

    Note: In some older papers, the “pre” prefix is use instead of a zero. Thus, R0 was might be called pre-HV in these papers.

45. Where are apostrophes (‘) used in mitochondrial haplogroup names? faq id: 2182

    Apostrophes are used to create a common branch between two well-established branch points in the tree. One example is M1'20'51. It is the common parent of the M1, M20, and M51 branches.

    • M1'20'51
      • M1
      • M20
      • M51

    Note: Some branches of the tree that were joined before the apostrophe was adopted are joined without the use of an apostrophe by historic convention. Examples are HV, which was when named the parent of the H and V branches, and JT that is the parent of the J and the T branches.

46. What is a mitochondrial DNA (mtDNA) transition? What is the nomenclature for displaying them? faq id: 2183

    Transitions are types of DNA mutations. They are places in your DNA where nucleotides (Cytosine, Guanine, Adenine, and Thymine) have been changed value.

    Transitions are where a purine has mutated to the complimentary purine (A <-> G) or where a pyrimidine has mutated to the complimentary pyrimidine (C <-> T). Transitions are shown by giving the original value capitalized before the location and the mutated value capitalized after the location. Thus, a transition of a C nucleotide at locus 146 to a T is shown as C146T.

    Haplogroup - H
    HVR1 differences from RSRS A16129G T16187C C16189T T16223C G16230A T16278C C16311T	HVR2 differences from RSRS  G73A C146T C152T C195T A247G 309.1C 315.1C C498D	Coding Region differences from RSRS A769G A825t A1018G G2706A A2758G C2885T T3594C G4104A T4312C T7028C G7146A T7256C A7521G T8468C T8655C G8701A C9540T G10398A T10664C A10688G C10810T C10873T C10915T A11719G A11914G T12705C G13105A G13276A T13506C T13650C T14766C

47. What is a mitochondrial DNA (mtDNA) transvertion? What is the nomenclature for displaying them? faq id: 2184

    Transvertions are types of DNA mutations. They are places in your DNA where nucleotides (Cytosine, Guanine, Adenine, and Thymine) have changed value.

    Transvertions are where a purine has mutated to a pyrimidine or where a pyrimidine has mutated to a purine (C <-> G, C <-> A, T <-> G, or  T<-> A). Transvertions are shown by giving the original value capitalized before the location and the mutated value uncapitalized after the location. Thus, a transvertion of an A nucleotide at locus 825 to a t is shown as C825t.

    Haplogroup - H
    HVR1 differences from RSRS A16129G T16187C C16189T T16223C G16230A T16278C C16311T	HVR2 differences from RSRS  G73A C146T C152T C195T A247G 309.1C 315.1C C498D	Coding Region differences from RSRS A769G A825t A1018G G2706A A2758G C2885T T3594C G4104A T4312C T7028C G7146A T7256C A7521G T8468C T8655C G8701A C9540T G10398A T10664C A10688G C10810T C10873T C10915T A11719G A11914G T12705C G13105A G13276A T13506C T13650C T14766C

48. What is a mitochondrial DNA (mtDNA) insertion? What is the nomenclature for displaying them? faq id: 2185

    Insertions are types of DNA mutations. They are places in your DNA where nucleotides (Cytosine, Guanine, Adenine, and Thymine) have been added to the DNA sequence.

    In in the example below, the sequence has an insertion at position 309. An insertion is denoted by a .1. The nucleotide added is Cytosine, therefore denoted with a C. The insertion then looks like this: 309.1C.

    Haplogroup - H
    HVR1 differences from RSRS A16129G T16187C C16189T T16223C G16230A T16278C C16311T	HVR2 differences from RSRS  G73A C146T C152T C195T A247G 309.1C 315.1C	Coding Region differences from RSRS A769G A825t A1018G G2706A A2758G C2885T T3594C G4104A T4312C T7028C G7146A T7256C A7521G T8468C T8655C G8701A C9540T G10398A T10664C A10688G C10810T C10873T C10915T A11719G A11914G T12705C G13105A G13276A T13506C T13650C T14766C

    A site may have consecutive insertions.

    If you have a two-nucleotide insertion the result is shown like this: 309.1C, 309.2C, indicating that two extra copies of Cytosine have been inserted.

    Haplogroup - H
    HVR1 differences from RSRS A16129G T16187C C16189T T16223C G16230A T16278C C16311T	HVR2 differences from RSRS  G73A C146T C152T C195T A247G 309.1C 309.2C 315.1C	Coding Region differences from RSRS A769G A825t A1018G G2706A A2758G C2885T T3594C G4104A T4312C T7028C G7146A T7256C A7521G T8468C T8655C G8701A C9540T G10398A T10664C A10688G C10810T C10873T C10915T A11719G A11914G T12705C G13105A G13276A T13506C T13650C T14766C

49. What is a mitochondrial DNA (mtDNA) deletion? What is the nomenclature for displaying them? faq id: 2186

    Deletins are types of DNA mutations. They are places in your DNA where nucleotides (Cytosine, Guanine, Adenine, and Thymine) have not been copied. The sequence will not have a result for that place.

    When a deletion is found in a sequence it is represented with a D. Thus, a deletion of a nucleotide at locus 498 is shown as C498D.

    Haplogroup - H
    HVR1 differences from RSRS A16129G T16187C C16189T T16223C G16230A T16278C C16311T	HVR2 differences from RSRS  G73A C146T C152T C195T A247G 309.1C 315.1C C498D	Coding Region differences from RSRS A769G A825t A1018G G2706A A2758G C2885T T3594C G4104A T4312C T7028C G7146A T7256C A7521G T8468C T8655C G8701A C9540T G10398A T10664C A10688G C10810T C10873T C10915T A11719G A11914G T12705C G13105A G13276A T13506C T13650C T14766C