SUMMARY OF SNP - Septmeber, 2013

Classification of SNP: Medium branch. CTS3087 is a son of L513 and has no known sons. L193.1, L706.2 and P66 are other known sons of L513 (L159.2 being recently removed due to its volatility). CTS2687, CTS6621 (and its duplicates CTS6942 and CTS11744), L577, L908 (and its duplicate L909) and Z1867 are other sons of L513 that have not qualified for the ISOGG haplotree to date. This analysis is not very speculative in nature since the nature of the curve of the testing candidates suggests minimal overlap of CTS6919 submissions with non-CTS6919 submissions. There appears to be only one fingerprint associated with CTS6919.

Scope of Testing within Fingerprint (67 markers): With around 77 testing candidates that should test positive and only five positive test results, more testing is required to determine how much overlap of positive and negative submissions exists at lower fingerprint matches.

Dominant Surnames (positive): Matthews, Fritz, Kilmacrenan, Devine and Sears have tested positive to date. Ruddy/Roddy (7) and Guthrie (5) are the most common surnames in the testing candidates..

Source of SNP: Nat Geo testing from FTDNA ID N112468, Y-Search ID none found, Surname Kilmacrenan, discovered January, 2013.

Number of Positive Tests (67 markers): Only five known.

Number of Negative Tests at or below 50 % matches (67 markers): At least 20 known (only L513 positive Nat Geo test results included).

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

Tests between 51 and 70 % matches (67 markers): Two tested negative to date and no positive test results to date. Only five of forty-four testing candidates are predicted to test positive for lower fingerprint matches.

Pending Tests (within Fingerprint): Probably several submissions (probably several Nat Geo tests that have not been submitted for analysis).

TRENDS OF TESTING CANDIDATES

CTS3087 Fingerprint

The curve associated with the CTS3087 fingerprint appears 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-CTS6919 submissions dominate at or under 50 % matches.

Even though the CTS3087 fingerprint is very well defined, 570 and 447 have lower match counts for the testing candidates list. These lower counts suggest one of two scenarios: 1) there could be a significant post-CTS3087 backwards mutation to the L21 modal which creates a major branch under CTS3087 or 2) that mutations of 570 and 447 are actually post-CTS3087 but happened very quickly after the CTS3087 mutation. Only more exhaustive testing will reveal the true scenario, however, for prediction purposes, either scenario would not dictate the removal of these marker values from the CTS3087 fingerprint.

ISOGG Status - Prove relationship of CTS3087 to other L21 SNPs

Requirements of proving CTS3087 position on the ISOGG haplotree have been met and CTS3087 has been added to the ISOGG haplotree. Below is a summary of SNPs tested. CTS3087 satisfies the new 10 % genetic diversity requirement and the surname diversity requirement for inclusion on the ISOGG haplotree. Two submissions of CTS3087 must have at least a genetic distance of 7 (10 % x 67 markers = 7).

DNA FINGERPRINT & SIGNATURES

With only five known positive test resultes for CTS3087, the CTS3087 fingerprint may require fine tuning as additional testing reveals the true scope of the currently defined CTS3087 fingerprints.

CTS3087 Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 390 <= 23, 391 <= 10, 439 <= 11, 389-2 <= 28, 458 <= 16, 447 >= 26 and 570 <= 16 (7 mutations).

Markers 38 to 67: 406S1 >= 11, 413a <= 22, 534 >= 16, 617 >= 13 and 565 <= 11 (5 mutations).

CTS3087 Signature (R-L21 Plus): 513-D2

Markers 1 to 37: 390 <= 23, 391 <= 10, 439 <= 11, 389-2 <= 28 and 458 <= 16 (5 mutations).

Markers 38 to 67: 406S1 >= 11, 534 >= 16, 617 >= 13 and 565 <= 11 (4 mutations).

Highly recommend that 447, 570 and 413a mutations be added to the 513-D2 signature.

TESTING CANDIDATE RECOMMENDATIONS

For a detailed list of good testing candidates, see the spreadsheet of testing candidates which can be found in the CTS3087 link in the DNA Results pull down menu. Here are the priorities for testing:

1) For the CTS3087 fingerprint, almost all 10 of 12 matches or higher will be dominated by positive test results. Since some overlap exists and there are a few submissions with much higher genetic distance, a small percentage of these submissions could test negative as well. Expanded testing is recommended of these 74 submissions - although less than 10 % will test negative.

2) For the CTS3087 fingerprint, probably half of the 8 of 12 and 9 of 12 matches (only 8 submissions) should test positive for CTS3087. It highly recommended that all of these submission be tested as boundary condition testing is key to determining the evolution of mutational changes under CTS3087 as well as fine tuning the CTS3087 fingerprint.

3) For 7 of 12 matches, only a small percentage (around 10 %) should test positive. These testing candidates should be considered speculative in nature. Testing of these 36 submissions is highly recommended as the test results (both positive and negative) will help reveal the evolution of mutational changes under CTS3087 as well as fine tuning of the CTS3087 fingerprint.