SUMMARY OF SNP - February, 2013

Classification of SNP: Medium to large branch. L1066 is the son of Z253. L1066 is also known as CTS1202 which is included in the Nat Geo 2.0 test. Additionally, L894 and L895 are sons of L1066. Z2183, Z2184 and Z2185 are newly discovered SNPs that are closely tracking L1066 and currently appear to be redundant with L1066. L1066 is turning out to be an older and broader L21 SNP that has at least six broad fingerprints (which share common L21 off modal values) and numerous outlier submissions where many could turn out to be future additional fingerprints. Since there is so many fingerprints associated with L1066, random testing of Z253* submissions is highly recommended. There is major overlap of submissions in fingerprints of L1066 with other L21 SNPs, so fingerprints will not be as reliable as other L21 SNPs.

Estimated Breadth of SNP (speculative estimate of positive submissions based on nine defined fingerprints only). The eventual scope will probably at least double in size as more testing reveals additional fingerprints and increases the accuracy of the existing fingerprints: 175 = B1 (35) + B2 (11) + B3 (44) + B4 (43) + B5 (17) + B6 (8) + B7 (15) + OB (0) + OD (2). Please note that there is significant overlap of these fingerprints with other L21 SNP fingerprints, many L1066 testing candidates will test negative (even at higher fingerprint matches).

Since there are nine fingerprints and ten outlier submissions (unassigned to any fingerprint), refer to the L1066 link in the DNA Results pull down menu. The spreadsheet gives the details of each fingerprint under different tabs within the spreadsheet. Two of the nine fingerpirnts are based on only one submissions and there are ten additional outlier submissions that could not be grouped with other submissions.

Dominant Surnames (positive): Many surnames.

Year that SNPs were discovered: 2012 (estimate).

Source of SNP: FTDNA - 1000 Genomes research.

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

Number of Broad Negative Tests: Around 121 submissions.

Number of Negative Tests within Fingerprints (higher than 70 %): Many - not genetically isolated.

Pending Tests (within Fingerprint): Very actively being researched - probably many.

TRENDS OF TESTING CANDIDATES

All fingerprints have very mixed testing results due to submissions overlapping with other L21 fingerprints. There are also narrow in scope as well. Most fingerprints will require much higher than normal matches to test positive.

L1066-B1 Fingerprint

L1066-B2 Fingerprint

L1066-B3 Fingerprint

L1066-B4 Fingerprint

ISOGG Status - Prove relationship of L1066 to other L21 SNPs

Requirements of proving L1066 position on the ISOGG haplotree have been met. L1066 was recently been added to the ISOGG haplotree.

ISOGG Status - Prove genetic and surname diversity of L1066

L1066 satisfies the 15 % genetic diversity requirement and the surname diversity requirement for inclusion on the ISOGG haplotree. Two submissions of L1066 must have at least a genetic distance of 10 (15 % x 67 markers = 10). L1066 was recently been added to the ISOGG haplotree.

DNA FINGERPRINT & SIGNATURES

Note: All fingerprints and signatures are very preliminary in nature and will require fine tuning as additional testing reveals the true scope of each L1066 fingerprint. The number of fingerprints and signatures will grow over time and several fingerprints/signatures will be required to be split into multiple fingerprints/signatures as well. Below are the four largest fingerprints found to date

L1066-B1 Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 391 <= 10, 385b >= 15, 449 <= 29, 464a <= 14, 464c <= 16, 460 <= 10 and GATA-H4 <= 10 (7 mutations).

Markers 38 to 67: None (0 mutations).

No matching signature found.

L1066-B2 Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 391 <= 10, 385b >= 15, 447 >= 26, 464b >= 16, 460 <= 10 and GATA-H4 <= 10 (6 mutations).

Markers 38 to 67: 557 >= 17; 534 >= 16 and 481 <= 21 (3 mutations).

L1066 Signatures (R-L21 Plus): 253-2185-1066-A1

Markers 1 to 37: 391 = 10, 385b = 15, 447 = 26, 460 <= 10 and GATA-H4 = 10 (5 mutations).

Markers 38 to 67: 557 = 18 and 534 >= 16 (2 mutations).

L1066-B3 Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 391 <= 10, 385a >= 12, 385b >= 15, 426 >= 13, 464c <= 16, 460 <= 10 and GATA-H4 <= 10 (7 mutations).

Markers 38 to 67: 406S1 >= 11 and 520 >= 21 (2 mutations).

L1066 Signatures (R-L21 Plus): 253-2185-1066-T4

Markers 1 to 37: 391 = 10, 385a = 12, 426 = 13, 458 >= 18, 460 = 10 and GATA-H4 = 10 (6 mutations).

Markers 38 to 67: 406S1 >= 11 (1 mutation).

L1066-B4 Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 385b >= 15, 449 <= 29, 464a <= 13, 464c <= 16, 460 <= 10 and GATA-H4 <= 10 (6 mutations).

Markers 38 to 67: 442 >= 13 and 534 >= 16 (2 mutations).

No matching signature found.

Both fingerprints and signatures for L1066 are very speculative in nature due to massive genetic diversity of L1066 submssions to date and the overlapping nature of L1066 testing candidates with other L21 SNPs.