Jun 07 2008
Which markers are tested in the mtDNA SNP Backbone Test Panel?
The mtDNA SNP Backbone Test Panel examines 20 SNP markers in the coding region of the mtDNA. These 20 SNP markers are the defining markers for determining an individual’s mtDNA haplogroup when used together with the HVR1 and HVR2 results. The chart below lists the 20 markers that are included in this panel, and the haplogroups that they define.
| SNP Location | Mutations | Haplogroups |
|---|---|---|
| 2352 | T > C | L1b, L3e, U6b1 |
| 3594 | C > T | L0, L1, L2, L5 |
| 3693 | G > A | L1b, L2d |
| 4312 | C > T | L0 |
| 4580 | G > A | V |
| 4833 | A > G | G |
| 5178 | C > A C > T |
D |
| 7028 | C > T | H* |
| 7055 | A > C A > G |
L1 |
| 7598 | G > A | E |
| 8618 | T > C | L3d |
| 10086 | A > G | L3b |
| 10310 | G > A | F |
| 10400 | C > T | C, D, E, G, M, Q, Z |
| 10873 | T > C | C, D, E, G, L, M, Q, Z |
| 11251 | A > G | JT, J, T |
| 11719 | G > A | Pre-HV, HV* |
| 12308 | A > G | K, U |
| 12705 | C > T | B, F, H, J, K, P, T, R, U, V* |
| 14766 | C > T | HV* |
The diagram below is a phylogenetic tree illustrating how all people living today share a common maternal ancestor, the “mitochondrial eve”. The diagram also shows where each mtDNA SNP marker appears in the tree. Click here to download a detailed copy of the mtDNA Haplogroup Map.
