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Jordan Surname DNA Project: Tutorial

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[edit] Mitochondrial DNA (mtDNA) testing

Map of human migration, according to Mitochondrial DNA. The numbers represent thousands of years before present time. The blue line represents the area covered in ice or tundra during the last great ice age. The North Pole is at the center. Africa, harboring the start of the migration, is at the top left and South America is at the far right.

A person's maternal ancestry can be traced using his or her Mitochondrial DNA (mtDNA). The DNA in the mitochondria is generally passed down by the mother unchanged, though some exceptions have been shown.

[edit] What gets tested

mtDNA, by current conventions, is divided into three regions. They are the coding region and two Hyper Variable Regions (HVR1 and HVR2). HVR2 starts at 1 and ends at 580. The coding region runs from 581 to 16000. HVR1 starts at 16001 and ends at 16569. All test results are compared to the mtDNA of a European in Haplogroup H2b. This sample is known as the Cambridge Reference Sequence (CRS).

A list of single nucleotide polymorphisms (SNPs) is returned. Any "mutations" or "transitions" that are found are simply differences from the CRS. The test results are compared to another person's results to determine the time frame in which the two people shared a most recent common ancestor (MRCA). The two most common mtDNA tests are a sequence of HVR1 and a sequence of both HVR1 and HVR2. Some people are now choosing to have a full sequence performed. This is still somewhat controversial as it may reveal medical information.

[edit] Understanding test results

The most basic of mtDNA tests will sequence Hyper Variable Region 1 (HVR1). HVR1 nucleotides are numbered 16001-16568. Some test reports might omit the 16 prefix from HVR1 results. ie 519C and not 16519C.

More extensive tests will also sequence Hyper Variable Region 2 (HVR2). HVR2 nucleotides are numbered 001-574.

[edit] Haplogroup

Most results include a prediction of mtDNA Haplogroup.

If you belong to a Haplogroup that is distantly related to the CRS then the prediction may be sufficient. Some companies test for specific mutations in the coding region. For large Haplogroups such as mtDNA Haplogroup H an extended test is offered to assign a sub-clade.