|
Aubie Jo Camp 's HeritageAnalysis of the results from mtDNA testing
These are the test results of one of Aubie Jo Camp's first generation descendants. They are reported as differences from the CRS (Cambridge Reference Sequence), according to convention. Haplogroup H6 is a central Asian/eastern European haplogroup. It is rare in western Europe. The female founder, from whom Aubie Jo was descended in the maternal line, is believed to have lived some 40,000 years before present. This haplogroups is most common in central/southern Asia, where it probably arose, around the Caucasus, also around the Black Sea area and near East. It is also found in central and eastern Europe (Balkans, Danube regions) and has been found in Estonia, Finland, Latvia, Sweden, and in lesser frequency in Italy, France, Germany, UK and Ireland. There is a map of the present-day distribution of H6 on the last page of the document at this address: Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia (PDF format, opens in a new window) As a brief explanation of what the actual reported numbers mean, let us first briefly review mtDNA. The letters mtDNA stand for mitochondrial DNA. This is not the double-helix type DNA we learn about in school. The double-helix type which splits and recombines is called autosomal DNA, also known as nuclear DNA. From this we get some characteristics from one parent, some from the other parent. By contrast, mtDNA is a smaller molecule, present in every cell in the body, and we inherit it only from our mother. She gets it from her mother and so on. Males have mtDNA in their cells, but they cannot pass it to their children. Within the mtDNA are two regions called HVR1 and HVR2. These are regions of the molecule which change, at fairly well understood rates, but slowly enough to be of use in tracing female genetic lines. The meanings of the G, C, T, A letters in the changes in your results just indicate what type of 'base pair' is present at that place on the molecule. For most purposes we don't care about what exactly that means here, except that they work in pairs (C and G, A and T). On to haplogroups - an mtDNA haplogroup defines a population group. A person is assigned to a haplogroup based on their HVR1 and HVR2 results and on changes from the CRS that are found in the 'coding region' of the mtDNA molecule. The 'coding region' is where mtDNA determines genetic features, that is we can think of it as where the 'work is done'. The HVR1 and HVR2 regions can be considered on the other hand to be 'junk' or 'non-useful' DNA. That is all we need to know - that haplogroup is not determined just by HVR1 and HVR2 but by other information on the molecule. So the haplogroup is not 'estimated' from HVR1 and HVR2 - it is separately tested and assigned. By being assigned a haplogroup one can begin to uncover how, over tens of thousands of years, a female ancestors mtDNA evolved and how it maps to current population groups. In the HVR1 region there is a change from 16362G to 16362C. What does that mean? Back in 1981 in Cambridge, England, a woman was chosen to have her mtDNA sequence decoded. She just happened to be a random choice for the experiment. Her identity is not public but her sequence was called the 'Cambridge Reference Sequence' (CRS for short) only because she was the first one tested - there is nothing else special about her. mtDNA sequences are now compared to that sequence (the CRS) and only the differences are reported - otherwise you would get a very long sequence of numbers, most of which you'd have to ignore. So for 16362C - the CRS sample had a G at that place on the molecule and Aubie Jo's line has a C. Similarly for 16482G - the CRS sample had a C at that place on the molecule and Aubie Jo's line has a G. Looking at the HVR2 results - 263G means that the CRS has 'letter' C at position 263 on the molecule, but Aubie Jo's line has G instead. 315.1C means an extra C has been inserted at position 315. In both these cases the CRS sequence actually had very rare values - as more tests have been done in the years since 1981 it has turned out that almost everyone, of any haplogroup, has these changes from the CRS. 239C means that the CRS sample had a G at that place on the molecule and Aubie Jo's line has a C.
Please feel free to direct any questions, or requests for clarification or further detail, to me via the email address at the bottom of this page. |