SUMMARY OF SNP (January, 2013)

Note - partial update - primarily added submissions to the L226 results spreadsheet as well as major changes in groupings within spreadsheet.

Classification of SNP: Large Branch.

Estimated Breadth of SNP (over 70 % match): Around 240 submissions.

Scope of Testing within Fingerprint: Very High- Around 100 candidates (over 70 % match of DNA fingerprint) have tested positive. No positive submissions found between 50 and 70 % of fingerprint.

Dominant Surnames (positive): O'Brien (10), Casey (7), McCraw/McGraw (5), Butler (2), Cannon (2) and around 70 other submissions.

Year that SNPs were discovered: November, 2009.

Source of SNP: FTDNA WTY - O'Brien, 30225 (9DJ2R).

Number of Positive Tests: 90 to 100.

Number of Negative Broad Tests: Over 500 (mostly from deep clade testing).

Number of Negative Tests within Fingerprint (over 70 % match): None known.

Possible Untested Candidates (over 70 % match): Around 150.

Pending Tests (within Fingerprint): Probably several with deep clade tests.

ANALYSIS OF FINGERPRINT MARKERS

For L226, 464a <= 13 and 464b <= 13 appear to track L226 very well. These mutations happened shortly before or shortly after the creation of the L226 mutation. Testing lower fingerprint matches that do not match these values should be tested and testing transitional area fingerprint matches (between 50 % and 70 %) should be tested for those submissions that have these two marker values or one of these two marker values.

For L226, 459a <=8, 459b <= 9, 449 <= 29, 464c <= 15 and 557 <=15 appear to have mutated some time before the creation of the L226 mutation. It is critical that these markers be part of the L226 fingerprint, but they are not key markers that should be used for testing criteria of submissions in the transitional area.

For L226, 439 <= 11 appears to be significantly post L226 mutation creation. There are 203 submissions that have the value of 439 <= 11 and 44 submissions that have 429 >= 12. This marker should be part of the L226 fingerprint, but this Y-STR mutation represents a significant early branch within the L226 Y-SNP.

For L226, 449 <= 29 may be another post L226 mutation creation. Unfortunately, this marker mutation only occurs with 439 <= 11. There are 30 submissions that are 449 >= 30 and 217 submissions that are 449 <= 29. This marker is believed to be a backwards mutation back to the original L21 MRCA marker value but this could change as more submissions are tested. If 449 <= 29 is truly a post L226 mutation, then there would have to be a parallel mutation of 439 <= 11 in order resolve the conflict with the early 439 <= 11 branch.

TRENDS OF TESTING CANDIDATES

Note that the number of known testing candidates appears to be fairly typical for L21 SNPs where the number of testing candidates declines down to 70 % matches and then sees a sharp rise as non-L226 submissions dominate the under 50 % matches. This trend suggests a very small overlap of L226 submissions with non-L226 submissions at lower fingerprint matches. L226 will probably test positive down to 70 % matches, have primarily negative test results at lower fingerprint matches and then only test negative for below 50 % matches. However, the transitional fingerprint matches (between 50 % and 70 % matches) have not been well tested to date.

ISOGG Status - Prove relationship of L226 to other L21 SNPs

Requirements of proving L226 position on the ISOGG haplotree were met quite some time ago and L226 has been part of the haplotrees for several years. Most of these recommended tests will help determine the relationship between L266 and its possible brothers.

ISOGG Status - Prove genetic and surname diversity of L226

L226 satisfies both the 15 % genetic diversity requirement and the surname diversity requirement for inclusion on the ISOGG haplotree. Two submissions of L226 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 L226 has already qualified, a full analysis was not conducted.

DNA FINGERPRINTS

L21 Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 439 <= 11, 459a <= 8, 459b <= 9, 449 <= 29, 464a <= 13, 464b <= 13, 464c <= 15 and 456 <= 15 (8 mutations).

Markers 38 to 67: 557 <= 15 (1 mutation).

L21 Signature (L21 Spreadsheet): 253-1189-T3*.

Markers 1 to 37: 439 <= 11, 459 = 8,9, 464 = 13,13,$,$ and 456 = 15 (6 mutations).

Markers 38 to 67: None listed (0 mutations).

BOUNDARY CONDITION TESTING

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

DNA Fingerprint match (7 out of 9) and GD = 9.

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

DNA Fingerprint match (5 out of 9) and GD = 12.