Page Actions

Custom mitochondrial DNA reports

From ISOGG Wiki

Custom mitochondrial DNA reports are available for a small fee from ISOGG member Dr Ann Turner for Family Tree DNA customers who have taken a full mitochondrial sequence test. Dr Turner says:

"Complete mtDNA sequencing is currently only available from Family Tree DNA. The FTDNA written report is rather generic, with background information about the Cambridge Reference Sequence (CRS) and so forth, but no personalized comments. They will not address medical issues at all as a matter of policy. My custom report classifies each of your polymorphisms ("mutations" or differences from the CRS) according to whether they are diagnostic for haplogroups or whether they are more "private" (a more recent, familial mutation), and also whether they have any functional implications. A sample report is available; your report will contain the same general background.

I do caution people to be mindful about posting their complete results to the web. If there should be a mutation linked to a medical disorder, results would also apply to all matrilineal kin. My primary source for medical issues is at http://www.mitomap.org. If a client has a mutation mentioned there, I check the original citations at the Stanford Medical School Library. So far, it seems the great majority of listings at MitoMap are "provisional," based on a single case report and not duplicated in other studies. It goes without saying that I do not make a diagnosis, but I do scan the literature and inform the client of the current state of knowledge.

My custom report also contains some general background information about mitochondrial function and phylogenetic trees for haplogroups, with the geographic locations of your closest match. In most cases these clues are not very specific - if locations are listed, you will often find that similar sequences have been found in several different countries within Europe, or within Africa. It's usually possible to tell a continent or broad region of origin (European / African / Asian / Native American / Oceania-Polynesia), but migration patterns mean that few sequences are limited to one locality."

Further information

For further information e-mail Ann Turner at .