SUMMARY OF SNP (FEBRUARY, 2013)

Classification of SNP: Medium to large sized multi-fingerprint branch.

There is one main DF41 fingerprint (DF41-M), four smaller DF41 fingerprints and three outlier DF41 positive submissions which have not been assigned to any fingerprint. The outlier submissions are genetically isolated from other DF41 positive submissions and represent three very small scope fingerprints. DF41 is a son of DF13. L562 and L744 are sons of DF41.

This is the first L21 SNP that has been analyzed that is broad in scope, older in scope and has more than two fingerprints. Due to five known DF41 fingerprints and three outlier submissions, continued random testing of DF13* submissions is highly recommended. Only two or three broad SNPs will be analyzed to see how well and how much time it takes predict broader and older SNPs that have many surviving fingerprints.

The current scope of DF41 is currently around the same scope of other medium branches such as L371 and L555 which are single fingerprint SNPs. Random testing will very likely produce more DF41 fingerprints. Funds should also be spent testing known transitional area submissions of the five known DF41 fingerprints. Even though 167 random submissions have been tested, it is highly likely that the scope of DF41 will continue to grow as other fingerprints are identified and existing fingerprints are enhanced with additional testing. The current scope of DF41 is estimated to be around 70 to 80 submissions but this scope could increase by another 50 to 100 % as more random testing reveals more about the true breadth of DF41.

The DF41-M fingerprint represents almost half of all DF41 submissions that are predicted to test positive. For DF41-M, the marker values 392 >= 14 and 568 <= 10 appear to be the boundary defining Y-STR values. These values align very nicely with all fingerprint matches of 8 of 9 and higher which will all probably test positive. Any testing below 8 of 9 matches should put a higher priority on testing for submissions with the above two marker values. Testing should only be done at over 50 % fingerprint matches for any of the five DF41 fingerprints (for some DF41 fingerprints, even higher percentages are required).

Scope of Testing within DF41-M fingerprint: - Very good - At 8 of 9 matches or higher, eighteen of the twenty-eight known DF41-M submissions have all tested positive to date. Only a few other submissions above a 50 % match have these marker values which are probably key to testing positive for DF41-M.

Note that the number of known testing candidates rapidly decreases as the DF41-M fingerprint matches decreases. This is typical for most L21 Y-SNP fingerprints but 6 of 9 and 7 of 9 have only five known testing candidates which suggests that the DF41-M fingerprint is isolated from non-DF41-M submissions. This trend suggests extremely little overlap of DF41-M submissions with non-DF41-M submissions at high fingerprint matches. Additionally, all submissions should test positive down to 70 % matches for the DF41-M fingerprint. The following tables applies to five known DF41 fingerprints (above analysis mainly addresses only the DF41-M fingerprint):

Summary of DF41 testing

Dominant Surnames (positive): Many diverse surnames.

Year that SNPs were discovered: 2012.

Source of SNP: Academic source.

Number of Positive Tests (67 markers): Thirty-sevn known.

Number of Negative Broad Tests (67 markers): Around 167.

Number of Negative Tests within Fingerprint (above 70 % matches): One or two across five fingerprints.

Possible Untested Candidates (above 70 % match): Around 30 (almost all should test positive).

Pending Tests (within Fingerprint): Actively being tested - probably several.

ISOGG Status - Prove relationship of DF41 to other L21 SNPs

DF13 has been added to the ISOGG haplotree.

ISOGG Status - Prove genetic and surname diversity of DF41

DF41 currently satisfies both the genetic diversity rule and the surname diversity rule. Two submissions of DF41 must have at least a genetic distance of 10 (15 % x 67 markers = 10). Note: DF41 has already qualified for the ISOGG haplotree.

DNA FINGERPRINT & SIGNATURES

DF41-M Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 392 >= 14, 447 >= 26, 437 >= 16, 449 <= 29, 456 <= 15 and 576 >= 19 (6 mutations).

Markers 38 to 67: 534 <= 14, 481 <= 21 and 568 <= 10 (3 mutations).

Signature 41-1426C is a close match to the DF41-M fingerprint

Markers 1 to 37: 392 = 14, 447 = 26 and 437 = 16 (3 mutations).

Markers 38 to 67: 534 <= 14, 481 <= 21 and 568 = 10 (3 mutations).

DF41-D Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 439 >= 14, 449 <= 29, 464c <= 16, GATA-H4 <= 10, 456 <= 15 and 570 >= 19 (6 mutations).

Markers 38 to 67: 534 <= 14, 520 >= 21, 572 <= 10 and 565 >= 13 (4 mutations).

Signature 41-1013 is a close match to the DF41-D fingerprint

Markers 1 to 37: 439 >= 14, 449 >= 29, GATA-H4 <= 10 and 570 >= 19 (4 mutations).

Markers 38 to 67: 520 >= 21, 572 <= 10 and 565 = 13 (3 mutations).

DF41-S Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 390 <= 23, 385b <= 11, 439 <=11, 458 <= 16, 447 <= 24, 449 <= 28, 464b >= 16 and 456 <= 15 (8 mutations).

Markers 38 to 67: 413a <= 22 and 534 <= 14 (2 mutations).

Signature 41-1123 is a close match to the DF41-S fingerprint

Markers 1 to 37: 390 = 23, 385 = 11,11, 439 <=11, 458 = 16, 447 <= 24, 449 <= 28 and 464b = 16 (7 mutations).

Markers 38 to 67: 413a <= 22 and 534 <= 14 (2 mutations).

DF41-N Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 437 <= 14, 449 <= 29, 464c <= 16 and GATA-H4 <= 10 (4 mutations).

Markers 38 to 67: 594 >= 11, 534 <= 14, 481 <= 21 and 446 <= 12 (4 mutations).

No signature found matching DF41-N

DF41-B Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 437 <= 14, 449 <= 28, 460 <= 10, 570 >= 18 and 442 >= 13 (5 mutations).

Markers 38 to 67: 594 >= 11 and 534 <= 14 (2 mutations).

No signature found matching DF41-B