Sunday, 19 June 2011

Mitochondrial DNA (mtDNA) testing

A person's matrilineal or mother-line ancestry can be traced using the DNA in his or her mitochondria, the mtDNA, as follows: This mtDNA is passed down by the mother unchanged, to all children. If a perfect match is found to another person's mtDNA test results, one may find a common ancestor in the other relative's (matrilineal) "information table", similar to the patrilineal or Y-DNA testing case above. However, because mtDNA mutations are very rare, a nearly perfect match is not as helpful as it is for the above patrilineal case. In the matrilineal case, it takes a perfect match to be very helpful.[6]
Note that, in cultures lacking matrilineal surnames to pass down, neither relative above is likely to have as many generations of ancestors in their matrilineal information table as in the above patrilineal or Y-DNA case: for further information on this difficulty in traditional genealogy, due to lack of matrilineal surnames, see Matrilineality's section Matrilineal surname.[7]
Some people cite paternal mtDNA transmission as invalidating mtDNA testing,[8] but this has not been found problematic in genealogical DNA testing, nor in scholarly population genetics studies. See the rest of this article.

mtDNA by current conventions is divided into three regions. They are the coding region (00577-16023) and two Hyper Variable Regions (HVR1 [16024-16569], and HVR2 [00001-00576]).[9] All test results are compared to the mtDNA of a European in Haplogroup H2a2a. This early sample is known as the Cambridge Reference Sequence (CRS). A list of single nucleotide polymorphisms (SNPs) is returned. The relatively few "mutations" or "transitions" that are found are then reported simply as differences from the CRS, such as in the examples just below.

The two most common mtDNA tests are a sequence of HVR1 and a sequence of both HVR1 and HVR2. Some mtDNA tests may only analyze a partial range in these regions. Some people are now choosing to have a full sequence performed, to maximize their genealogical help. The full sequence is still somewhat controversial because it may reveal medical information.

No comments:

Post a Comment