More about the markers used

Here's an actual result from a 46 marker test done by GeneTree for SMGF:


DYS385a DYS385b DYS388 DYS389I DYS389II DYS390 DYS391
11 15 12 13 28 23 11
DYS392 DYS393 DYS394/19a DYS394/19b DYS426 DYS437 DYS438
13 13 14 - 12 15 12
DYS439 DYS441 DYS442 DYS444 DYS445 DYS446 DYS447
12 15 17 12 12 13 25
DYS448 DYS449 DYS452 DYS454 DYS455 DYS456 DYS458
19 31 30 11 11 16 16
DYS459a DYS459b DYS460 DYS461 DYS462 DYS463 DYS464a
9 10 10 12 11 24 15
DYS464b DYS464c DYS464d DYS464e DYS464f GATA H4.1 GGAAT1B07
17 18 19 - - 13 10
18 23 15 23      

There are several things to note:

  1. Three of the markers are shown with a '-'. This does NOT mean the test was not done, instead it means that these particular markers were not present i.e. had a value of '0'. About 1% of tests done have the extra e,f and sometimes g values
  2. The DYS394/19a and DYS394/19b behave in the same way as DYS464 and are listed order of the values they contain (see below).
  3. Some of the markers are also known by other names:
    DYS394 and DYS19 are the same
    Y-GATA-C4 and DYS635 are the same
  4. DYS385, YCAII, DYS459 AND DYS465 are 'multi-allelic', in other words copies of them may exist in several places. They are given a, b, c etc suffixes and are listed in order of the values they contain, lowest first since the testing method is unable to distinguish between their locations. They may sometimes be reported with a comma seperated value. For example in the example above DYS464 could be reported as DYS464 15,17,18,19
  5. The marker DYS464 is given the names DYS464a, b, c, d, e, f (and sometimes g). By convention these markers are listed from the lowest to the highest number. In practice this can cause confusion if you do not realise this since someone with the values 15,15,16,17 here seems to have a considerable difference from someone with the values 15,16,17,18 however there is only one value that is different a value of 15 has been changed to an 18. Changes in this particular marker are quite common.
  6. The markers DYS389I AND DYS389II are separate markers but DYS389I is nested inside DYS389II along with a marker refered to as DYS389B. In other words if DYS389I is 13 and DYS389B is 15 then DYS389II would be the total of these - 28.
  7. Y-GATA-H4.1 is a marker where the sequence AGAT is counted. Some sites refer to this marker as GATA H1.
  8. In a small number of cases you may get an unusual value for a marker result. For example for the marker DSY388 has a value of 9-13 in 0.003% of people tested and 12.2 in 0.006% of people tested. Values like this require further explanation:
    • 9-13 means that like DSY385 an extra copy of the marker exists. These could be called DSY388a and DSY388b but since the extra marker occurs in so few cases the results are simply separated by a '-'. The lowest number is always shown first.
    • 12.2 means that there are 12 copies of the short tandem repeat (STR) 'ATT' and one partial copy 'AT'. In the same way a value of 15.3 for the marker DYS441 would have 15 copies of 'TTCC' and one partial copy of 'TTC'. The number following the decimal point indicates the length of the partial STR.
  9. For the exact nature of each marker See this page at SMGF.


Different companies do different levels of Mitochondrial DNA testing. They test areas of the 16,569 base mitochondrial DNA which show variation. There are over 1500 markers tested in a full test which covers the 'hypervariable regions' (regions where there is variation) The main area tested is the area known known as the D-loop. This area is further sub divided into the HVR1, HVR2 and sometimes HVR3. Confusingly the markers tested in these regions vary from company to company as in the table below:

African Ancestry1602416424
DNA Heritage160011656800001004000040100576
Family Tree DNA16001165690000100579
Oxford Ancestors1600116400
Relative Genetics160011656900001003900039100590
Data Source - SMGF

Obviously it would be difficult to report on all of these markers so the report is given as the difference between your markers and that of a standard reference sequence - the Cambridge Reference Sequence (CRS).

Here's the result I got from a GeneTree test:

Location 16069 16126 16519 73 146 185 188 222 228 263 295 315.1 462 489
My Sequence T C C G C A G T A G T C T C

As you can see the markers are identical to the Cambridge Reference Sequence apart from 15 areas. The CRS does not have the marker at area 315.1. My result has an extra marker C inserted after marker 315 and the decimal point indicates this extra marker at this position in the sequence.

If you want to determine your haplogroup then try using the Haplogroup reference guide produced by Genebase




Found an error? Please let me know and I'll correct it. My thanks to Larry Tesler for his corrections.


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