SUMMARY OF SNP (JULY, 2012)

Classification of SNP: Near Private.

Estimated Breadth of SNP: 18 x 95 % (9 of 9) + 72 x 10 % (8 of 9) + 290 x 2 % (7 of 9) = 30 predicted positive submissions. All positive submissions have been 9 of 9 matches to date and only one surname - Templeton. Two of 72 submissions have tested negative at 8 of 9 matches and seven of 290 submissions have tested negative at 7 of 9 matches. This implies L743 is a much more narrower breadth than most L21 YSNPs which usually test positive down to 70 % of the fingerprints. A test is pending for the status of DF13 (63127). The marker 458 < = 16 appear to defining marker of the L743 fingerprint. However, only 100 % fingerprint matches have tested positive for 458 <= 16 and several lower fingerprint matches have tested negative for 458 <= 16. This indicates that the mutation of 458 (17 to 16) was pre-L743 in origin and that having 458 <= 16 does not guarantee testing L743 positive.

Scope of Testing within Fingerprint: (June, 2012) - Above average - Twelve tested out of eighteen known Templeton submissions have tested positive to date (all are 100 % match of the L743 fingerprint). Only Templeton submissions are found with a 9 of 9 match of the fingerprint. However, only nine of 362 known testing candidates have been tested between 8 of 9 or 7 of 9 matches. Lower matches are estimated to be 10 % (8 of 9) and as low as 2 % (7 of 9) based on results to date. These are very speculative estimates of testing positive.

Note that the number of known testing candidates increases as the fingerprint match decreases. This is not typical for most Y-SNPs. This trend suggests substantial overlap of L743 with non-L743 submissions at high fingerprint matches. Additionally, most SNPs test positive down to 70 % matches but L743 only tests positive at 100 % matches and all eight tests between 70 % and 90 % have tested negative to date. This indicates that L743 is much narrower in scope than most SNPs may struggle to qualify for the ISOGG haplotree.

Summary of L743 testing

Dominant Surnames (positive): Only Templeton (12).

Year that SNPs were discovered: 2011 (estimate).

Source of SNP: FTDNA WTY - Templeton, 63127 (E6Q75).

Number of Positive Tests (June, 2012): Twelve known.

Number of Negative Broad Tests (June, 2012): Around 33.

Number of Negative Tests within Fingerprint (70 % to 90 % matches): Seven known.

Possible Untested Candidates (over 70 % match): Around 361 (over 95 % will be negative).

Pending Tests (within Fingerprint): None known.

ISOGG Status - Prove relationship of L743 to other L21 SNPs

Since there is a pending test for DF13, this is a blocking factor for this ISOGG requirement.

ISOGG Status - Prove genetic and surname diversity of L743

L743 currently does not satisfy the genetic diversity requirement or surname diversity required for inclusion on the ISOGG haplotree. Two submissions of L743 must have at least a genetic distance of 10 (15 % x 67 markers = 10).

ISOGG Status - Prove L743 is not the son of existing DF13 sons:

Even though the genetic distance requirement may be difficult to achieve in the near term, it is always recommended to determine how any SNP relates to other SNPs. Well over 50 % of all L21 submissions descend for known sons of L21 (soon to be replaced by DF13), so there is a 50 % chance of testing positive for one the current sons of L21.

ISOGG Status - Prove L743 is not the father of existing DF13 sons:

It is very unlikely that L743 is the father of broader existing sons of L21. However, it is a requirement for ISOGG qualification. Fortunately, any fairly recent WTY test will test many of the existing L21 sons that need to test negative.

DNA FINGERPRINT & SIGNATURES

L743 Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 391 <= 10, 389-2 >= 30, 458 <= 16, YCAIIb >= 24, 456 <= 15 and 576 >= 19 (6 mutations).

Markers 38 to 67: 531 >= 12, 413a <=22 and 444 <= 11 (3 mutations).

L743 Signature (L21 Plus): 1030-A-Sc-24-743.

Markers 1 to 37: 391 <= 10, 449 >= 30 (L21 MRCA ?), GATA-H4 = 12 and YCAIIb = 24 (4 mutations).

Markers 38 to 67: 531 >= 12, 413a <= 22 and 444 >=11 (3 mutations).

Note: Should be 444 <= 11 and GATA-H4 = 11 (L21 MRCA).

Boundary Condition Testing

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

L743 fingerprint match (9 out of 9), GD = 3 and surname of Templeton.

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

L743 fingerprint match (8 out of 9), GD = 7 and surname of Young.