SUMMARY OF SNP (June, 2013)

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

Estimated Breadth of SNP (speculative estimate of positive submissions) = 190 predicted submissions at 67 markers. Requires two fingerprints to deal with significant post L193 fingerprint marker mutations that result in mixed testing results within fingerprint matches if only one fingerprint is defined.

Scope of Testing within Fingerprint (> 70 %): 88 tested.

Dominant Surnames: Elliott (38), Vance (22), Little (20), McLain (17), Clendenen (10), McGregor (9), Matheson (6), Cameron (5), Meeks (5), St. Clair (5), Blair (4), Duncan (4), Kennedy (4) and Martin (4).

Year that SNPs were discovered: January, 2010 (added to ISOGG haplotree).

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

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: None in primary fingerprint when second fingerprint was created.

Possible Candidates (70 % match): Around 300.

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 all known L193 surname clusters and these mutations probably happened prior to the L193 creation.

572 >= 12 and 607 >= 16 are shared by most L193 surname clusters, however, they are a significant number of L193 submissions with 572 <= 11 and 607 <= 15. 572 >= 12 and 607 >= 16 are post-L193 mutations since the Vance cluster and a second McGregor surname cluster do not share these off modal mutations. L193 requires two fingerprints for SNP prediction due to the early post L193 mutations of 607 and 572.

449 <= 29 presents a large challenge as there are large number of L193 submissions that are 449 >= 30 that are expected to test positive. The 607 and 572 branch has a major sub-branch based on 449 (Little, McGregor and Blair are 449 >= 30. Eleven other surname clusters are 449 <= 29. However, there remain many other submissions not belonging to these surname clusters which suggest multiple mutations of 449 are likely.

It appears that 406S1, 534, 617 and 640 are pre-L193 mutations. 607 and 572 are post L193 and create a very large branch and 449 creates another subbranch under this branch. The Vance surname cluster has 458 and a second McGregor surname cluster has 456 and 570 mutations which represent two branches that are brothers of the dominant 607 and 572 branch. The eighteen known surname clusters were key in developing this sequence of mutations.

TRENDS OF TESTING CANDIDATES

Note that the number of known testing candidates does 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. The L193 SNP is very unique due to having two fingerprints which share several marker values. The primary fingerprint fourteen surname clusters while the second fingerprint only has two surname clusters discovered to date. Below is the primary fingerprint (note that the positive test results for the second fingerprint have been removed at lower fingerprint matches):

The second fingerprint appears to be much smaller in scope but does provide some excellent testing candidates that could be missed with only one fingerprint. Only higher fingerprint matches are predicted to test positive and lower genetic distances are recommended for testing. Understanding the nature of this second fingerprint (which shares four mutations with the primary fingerprint) is key to find out the order of mutations just before and just after L193 creation. In order to isolate the matches in the second fingerprint from the matches in the second fingerprint, the L21 modal values for first fingerprint are included in the second fingerprint which is very different from other fingerprints under L21. These extra markers include 607, 572 and 449.

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.

DNA FINGERPRINTS

L21 Off Modal Mutations (L193-M):

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).

L21 Off Modal Mutations (L193-V):

Markers 1 to 37: 458 >= 18 (1 mutation).

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

DNA Signature (L21 Project): 513-A1-193-aus (many sub-branches defined as well)

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

Markers 38 to 67: 406S1 >= 11, 617 >= 13 and 640 = 12 (3 mutations).

Testing Candidate Recommendations

For a detailed list of good testing candidates, see the spreadsheet of testing candidates which can be found in the L193 link in the DNA Results pull down menu. Here are the priorities for testing:

1) For the L193-M fingerprint, all fingerprint matches a 6 of 7 and 7 of 7 will probably test positive. The 6 of 7 matches with higher genetic distance could test negative for one or two submissions, so testing the lower one-third of the submissions in the spreadsheet is recommended for 6 of 7 matches.

2) For the L193-M fingerprint, all the 5 of 7 matches should be tested. These tests will help clarify the order of mutations and there will be many negative tests in the lower half of the spreadsheet. It is highly recommended that all 5 of 7 testing candidates be tested for L193. It is very doubtful that any 4 o 7 matches will test positive, however, one or two submissions could test positive. Testing 4 of 7 matches would be very speculative in nature.

3) For the L193-V fingerprint, all Vance submissions will probably test positive. Only those submissions with lower fingerprint matches and higher genetic distance should be tested and it is almost certain that all Vance submissions will probably test positive. None of the McGregor submissions in this fingerprint have been tested and it is highly recommended that some of these submissions be tested for L193. Any Vance submisisons with less 7 of 7 matches are the best candidates to test.

4) For the L193-V fingerprint, all 7 of 8 matches should be tested. Most lower genetic distance submissions should test positive and most higher genetic distance will proably test negative. The 20 or 30 submissions with the lowest genetic distance at 6 of 8 matches should be tested as well. Most of these submission show up in both fingerprints and those that do not show in both fingerprints are excellent testing candidates.