SUMMARY OF SNP - March, 2013

Classification of SNP: Large branch. CTS4466 is a son of DF13 and has no confirmed sons at this time. CTS5714 is currently equivalent of CTS4466. This analysis is very speculative in nature since only two submissions have tested positive for what appears to be a very broad L21 SNP. Each positive submission was given its own fingerprint and only those submissions with higher than 70 % matches were included. Even with this conservative approach, around 271 submissions should test positive. The scope of CTS4466 could easily double in scope. Each of the two fingerprints have low quantity markers included in the fingerprints which will probably be later removed from the fingerprints. Also, additional fingerprints are expected. Random testing of DF13* submissions is highly recommended.

Scope of Testing within Fingerprint (67 markers): With over 270 testing candidates, much more exhaustive testing is required to determine how much overlap of positive and negative submissions exists at lower fingerprint matches.

Dominant Surnames (positive): Surnames are expected to be varied.

Source of SNP: Nat Geo CTS SNP.

Number of Positive Tests (67 markers): Two known.

Number of Negative Tests below 50 % matches (67 markers): Eighty-two known.

Number of Negative Tests within Fingerprints (higher than 70 %): None.

Tests between 50 and 70 % matches (67 markers): Three have tested negative.

Pending Tests (within Fingerprint): Probably numerous tests pending.

TRENDS OF TESTING CANDIDATES

CTS4466 Fingerprints

The CTS4466-M fingerprint has two markers that are very low counts above 70 %. These are two key off modal mutations: 458 >= 18 and H4 <= 10. These two marker values are probably post CTS4466-M creation but are included in the fingerprint until further testing prove these two markers post CTS4466 creation. The number of known testing candidates does not appear to be typical for L21 SNPs where the number of testing candidates declines down to 70 % matches, remains low between 50 and 70 % and then sees a sharp rise as non-CTS4466 submissions dominate the under 50 % matches. CTS4466-M will probably test positive for most submissions down to 70 % matches, have a significant mixture of positive and negative test results between 50 to 70 % matches and then test only negative for below 50 % matches. Below is a chart that summarizes the primary fingerprint:

CTS4466-C also has two key markers (H4 >= 12 and 570 >= 18) that will determine the true scope of this fingerprint.

ISOGG Status - Prove relationship of CTS4466 to other L21 SNPs

Requirements of proving CTS4466 position on the ISOGG haplotree have not been met. Below is a summary of SNPs tested.

ISOGG Status - Prove genetic and surname diversity of CTS4466

With only the first two submissions testing positive, CTS4466 satisfies both the 15 % genetic diversity requirement and the surname diversity requirement for inclusion on the ISOGG haplotree. Two submissions of CTS4466 must have at least a genetic distance of 10 (15 % x 67 markers = 10).

DNA FINGERPRINT & SIGNATURES

Note: All fingerprints will require fine tuning as additional testing reveals the true scope of CTS4466 fingerprints. Currently, there are only two submissions testing positive and each was assigned a fingerprint. These fingerprints will probably change when additional testing results become available.

CTS4466-M Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 391 <= 10, 385b >= 15, 439 <= 11, 458 >= 18, 447 <= 24, 449 <= 29, H4 <= 10 and 456 <= 15 (8 mutations).

Markers 38 to 67: 565 <= 11 (1 mutation).

Note: 458 >= 18 and GATA-H4 <= 10 have much less than one-half of the over 70 % matches with the above L21 off-modal marker values. It is not really possible to determine if the MRCA of the CTS4466 is the L21 off modal value or that these mutations were post-CTS4466 in origin.

Signature (R-L21 Plus): 1511-A-T2

Markers 1 to 37: 391 = 10, 385b >= 15, 439 <= 11, 447 <= 24 and 442 = 13 (5 mutations).

Markers 38 to 67: 565 <= 11 (1 mutation).

CTS4466-C Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 391 <= 10, 439 >= 11, 447 <= 24, 449 <= 29, H4 >= 12, 456 <= 15, 576 <= 17, 570 >= 18 and 442 >= 13 (9 mutations).

Markers 38 to 67: 446 >= 14 and 565 <= 11 (2 mutations).

Note: H4 >= 12 and 570 >= 18 have much less than one-half of the over 70 % matches with the above above off-modal marker values. It is not really possible to determine if the MRCA of the CTS4466 is the L21 off modal value or that these mutations were post-CTS4466 in origin.

Signature (R-L21 Plus): 1511-A-T2

Markers 1 to 37: 391 = 10, 385b >= 15, 439 <= 11, 447 <= 24 and 442 = 13 (5 mutations).

Markers 38 to 67: 565 <= 11 (1 mutation).