SUMMARY OF SNP (August, 2012)

Classification of SNP: Large sized branch - son of L513.

Estimated Breadth of SNP (speculative estimate of positive submissions) = 258 = 154 x 95 % (7 of 7) + 75 x 90 % (6 of 7) + 30 x 60 % (5 of 7) + 130 x 20 % (4 of 7). May require two fingerprints to deal with significant post L193 fingerprint marker mutations that result in mixed testing results within fingerprint matches at 5 of 7 and 4 of 7 matches.

Estimated Breadth of SNP: 250 to 270 submissions.

Scope of Testing within Fingerprint: 73 tested.

Dominant Surnames: Elliott (35), Vance (23), McLain (12), Clendenen (11), Little (12), Matheson (7), Meeks (5), Cameron (5), Blair (4) and McGregor (4).

Year that SNPs were discovered: 2009 (estimate).

Source of SNP: Later tested by WTY test - Meek, FTDNA ID 159822, Y-Search ID 2YAG7.

Number of Positive Tests: Around 73.

Number of Negative Broad Tests: between 400 and 500
(since this is an older Y-SNP - most are from deep clade tests).

Number of Negative Tests within Fingerprint: Four negative results with 5 of 9 matches and two positive results at only 4 of 9 matches.

Possible Candidates (70 % match): Around 260.

Pending Tests (within Fingerprint): None known.

ANALYSIS OF FINGERPRINT MARKERS

Pre-L193 fingerprint markers include 406S1 >=11, 534 <= 14, 617 >= 13 and 640 >= 12. These mutations are L21 off modals shared by most L193 submissions but the mutations happened prior to the L193 mutation.

572 >= 12 and 607 >= 16 are shared by most L193 submissions, however, there are a significant number of L193 submissions with 572 <= 11 and 607 <= 15. This presents a challenge for the prediction of L193 since many 4 of 7 matches are expected to test positive yet most will test L193 negative. L193 may require two fingerprints for SNP prediction due to many L193 submissions have both 572 <= 11 and 607 <= 15. Otherwise, the accuracy of L193 SNP prediction would be than most L21 SNPs.

449 <= 29 presents even a larger challenge as there are large number of L193 submissions that are 449 >= 30 that are expected to test positive. It appears that most pre-L193 submissions are 449 <= 29 but very near L193 creation most many L193 submissions are 449 >= 30. At some later point in time 449 may have backward mutated to the pre-L193 marker value of 29 (most high fingerprint matches are 449 <= 29).

Analyzing 572, 607 and 449 has been very challenging to determine how these siginificant mutations happened in chronological order. Additional research will be required to fine tune the analysis of L193. However, 572 >= 12 and 607 >= 16 are clearly post-L193 creation. The status of 449 is very difficult to determine, however, 449 is the third most important marker to be analyzed since around one-third of L193 have one value (449 >= 30) and two-thirds have a second value (449 <= 29).

TRENDS OF TESTING CANDIDATES

Note that the number of known testing candidates do not appear to be a typical for L21 SNP where the number of testing candidates declines down to 70 % matches and then sees a sharp rise as non-L193 submissions dominate the under 50 % matches. Due to many submissions including non-fingerprint marker values, the test results have a mixture and positive and negative test results at the same fingerprint match. Either the accuracy of the L193 prediction will suffer some or L193 may have to be represented by two fingerprints to improve L193 SNP prediction accuracy.

ISOGG Status - Prove relationship of L193 to other L21 SNPs

Requirements of proving L193 position on the ISOGG haplotree were met quite some time ago and L193 has been part of the haplotrees for several years. Most of these recommended tests will help determine the relationship between L193 and its possible brothers.

ISOGG Status - Prove genetic and surname diversity of L193

L193 satisfies both the 15 % genetic diversity requirement and the surname diversity requirement for inclusion on the ISOGG haplotree. Two submissions of L193 must have at least a genetic distance of 10 (15 % x 67 markers = 10). The genetic distance is much greater than shown below but since L193 has already qualified, a full analysis was not conducted.

DNA FINGERPRINTS

L21 Off Modal Mutations:

Markers 1 to 37: 449 <= 29 (questionable) and 607 >= 16 (2 mutations).

Markers 38 to 67: 406S1 >= 11, 534 <= 14, 617 >= 13, 572 >= 12 and 640 >= 12 (5 mutations).

DNA Signature (L21 Project): 513-1113-A-1*.

Markers 1 to 37: 607 >= 16 (1 mutation).

Markers 38 to 67: 406S1 >= 11, 534 <= 14, 617 >= 13 and 640 = 12 (4 mutations).

BOUNDARY CONDITION TESTING

Most Distant Positive Test Known (67 markers)
(from MRCA of positive submissions - not WTY):

Vance, FTDNA ID 65717, Y-Search PBEGX, 4 of 7 fingerprint match and GD=7.

Closest Negative Test Known (67 markers)
(from MRCA of positive submissions - not WTY):

Kelly, FTDNA ID 41456, Y-Search GXJEB, 5 of 7 fingerprint match and GD = 11.