An assessment of Y-
Address for correspondence: Rachel Rein, [email protected]
Haplogroup Q is defined by the single nucleotide polymorphism (SNP) M242, and it has 14 known subclades (ISOGG, 2009). A haplogroup name followed by an asterisk (*) indicates membership in a particular clade, but not in any known subclade. Specifically, the asterisk indicates that a sample does not possess the mutations that would place it in one of the known subclades. Sometimes the asterisk is misused to indicate that none of the downstream SNPs have been tested (Athey, 2009).
Haplogroup Q’s 14 known subclades are:
Q*, Q1*, Q1a*, Q1a1, Q1a2, Q1a3*, Q1a3a*, Q1a3a1, Q1a3a2, Q1a3a3, Q1a4, Q1a5, Q1a6, Q1b
present study an assessment of 237 records from Haplogroup Q explores the
prevalence of a null value at
record count considered here includes all 228 records from the Haplogroup Q
Project and the additional 9 non-duplicate records from the Ashina Project. The records were tested by Family Tree
Of the 237 Haplogroup Q records available, 140 records have undergone SNP testing (indicated in the project listings by showing the haplogroup name in green; a predicted haplogroup is indicated in red).
A total of 78 records have tested the 67-marker panel that includes
Records were sorted according to definitive sublclade assignment. The 13 records with a Q* or Q1* designation are considered ambiguous because some, if not all, were run at a time when no SNP downstream from M242 or P36 was tested (
example, two of the records analyzed match on 66 of the 67 Y-
The surveyed records with
SNP test results were assigned to six of the Haplogroup Q subclades: Q*, Q1*, Q1a2, Q1a3*, Q1a3a*, Q1b. However, the 13 records with a Q* or Q1*
designation are so labeled only because no SNP downstream from M242 or P36 has
been tested—they are probably not really Q* or Q1*. Of the four records classified as Q1a2, none
have results for
No records were found in the other 8 subclades: Q1a*, Q1a1, Q1a3a1, Q1a3a2, Q1a3a3, Q1a4, Q1a5, Q1a6.
Thirty-seven records were
found to have haplogroup assignments into either Q1a or Q1b and also to have a
All 17 records assigned to
Haplogroup Q1b had null values for
Of the 20 records assigned
to Haplogroup Q1a (i.e., Q1a3* and Q1a3a*) 19 of them had a value of 12 and one
record had a value of 13 for
Figure 1 shows a summary of the testing for the 237 Haplogroup Q records.
Figure 1. Summary of the test data from 237 Haplogroup Q records.
far, all records that have been assigned by SNP testing into Haplogroup Q1b
also have a null value for
presence or absence (null) of a value for
ISOGG 2009 Y-
Haplogroup Q Project
Athey TW (2009) Personal
Canada R (2009) Personal communication from Rebecca Canada, Administrator of the Y Haplogroup Q Project.