SUMMARY OF SNP (NOVEMBER, 2013)

Classification of SNP: Near Private. DF73 is the son of Z2534. DF73 qualifies for the ISOGG haplotree since the first two DF73 positive submissions already have a genetic distance of 16 and all other required testing has been completed. DF73 is pending ISOGG approval for inclusion on the ISOGG haplotree.

Estimated Breadth of SNP: 14 x 60 % (4 of 4) + 334 x 5 % (3 of 4) = 25 predicted positive submissions. Two of three submissions tested at 4 of 4 matches have tested DF73 positive and only Iberian (Spanish / Portuguese) surnames have tested positive. There is definitely major convergence of non-DF73 positive submissions present - probably due to the two positive submissions only sharing four markers in the fingerprint (any fingerprint under seven markers is not very reliable). With more higher fingerprint matches tested, the fingerprint may need adjusted (even though all the Iberian surnames do not change the existing fingerprint). This implies DF73 is a more narrower breadth than most L21 YSNPs which usually test positive down to 70 % of the fingerprints.

Scope of Testing within Fingerprint: Average - Both four of four matches with Iberian surnames have tested positive. Only one submission above 70 % has been tested and has a non-Iberian surname which tested DF73 negative. Priority should be to test other Iberian surnames or submissions with Iberian origins. However, non-Iberian surnames could also test positive as well.

Note that the number of known testing candidates increases as the fingerprint match decreases. This is not typical for most R-L21 YSNPs. This trend suggests substantial overlap of DF73 submissions with non-DF73 submissions at high fingerprint matches. Additionally, most R-L21 YSNPs test positive down to 70 % matches but DF73 only tests positive at 100 % matches to date (but should test positive for a small percentage of 3 of 4 matches as well).

Summary of DF73 testing

Dominant Surnames (positive): Iberian surnames Salda (1) and Rodriguez (1).

Year that the SNP was discovered: Sometime in 2013.

Source of SNP: 1000 Genomes.

Number of Positive Tests: Two known.

Number of Negative Broad Tests (50 % or higher fingerprint matches): Only one.

Number of Negative Tests within Fingerprint (70 % to 100 % matches): One known.

Possible Untested Candidates (over 70 % match): Around 348 (over 95 % will be negative).

Pending Tests (within Fingerprint): None known.

ISOGG Status - Prove relationship of DF73 to other L21 SNPs

DF73 has met all of the ISOGG requirements and DF73 is pending being added to the ISOGG haplotree (request has been submitted for ISOGG approval). At 67 markers, ISOGG requires a genetic diversity of 10 % (67 x 10 % = 7 mutations) and this requirement has been satisfied.

DNA FINGERPRINT & SIGNATURES

DF73 Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 389-1 >= 14, 447 <= 24 and 576 >= 19 (3 mutations).

Markers 38 to 67: 537 >= 11 (1 mutation).

DF73 Signature (L21 Plus): 253-2534-73-1411.

Markers 1 to 37: 389-1 >=14, 447 <= 24, 449 >= 30 and 570 <= 16 (4 mutations).

Markers 38 to 67: 537 >= 11 (1 mutation).

Testing Candidate Recommendations

1) All 4 of 4 matches should be tested. Obviously, submissions with Iberian surnames have a much higher probability of testing positive but several non-Iberian surnames may test positive as well at 100 % fingerprint matches.

2) Since the testing candidates imply very significant overlap of DF73 positive submissions with DF73 negative submissions, the vast majority of submissions with 3 of 4 matches will probably test DF73 negative. However, several 3 of 4 matches should test positive as well. Again, any Iberian surnames still have a very high probability of testing DF73 positive. It is also recommended that French submissions should be tested as well (lower odds than Iberian submissions but higher odds than English speaking surnames).