Table 1.
Typed Y-STRs and estimated mutation rates.
| Y-STR | Panel | Number of Mutations | Meioses | Mutation rates (*10-3) | Ref. Values | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Single | Multi | Val (Single) | CI (95%) | Val (Multi) | CI (95%) | FS | GP | |||||
| DYS19 | Yf/PP/YfP/L | 3 | 3 | 1166 | 2.57 | 0.00 | 6.00 | 2.57 | 0.00 | 6.00 | 3.99 | 2.26 |
| DYS389I | Yf/PP/YfP/L | 3 | 3 | 1166 | 2.57 | 0.00 | 6.00 | 2.57 | 0.00 | 6.00 | 5.14 | 4.24 |
| DYS389II-I | Yf/PP/YfP/L | 3 | 3 | 1166 | 2.57 | 0.00 | 6.00 | 2.57 | 0.00 | 6.00 | 3.44 | 4.80 |
| DYS390 | Yf/PP/YfP/L | 5 | 5 | 1166 | 4.29 | 0.86 | 8.58 | 4.29 | 0.86 | 8.58 | 1.14 | 2.54 |
| DYS391 | Yf/PP/YfP/L | 2 | 2 | 1166 | 1.72 | 0.00 | 4.29 | 1.72 | 0.00 | 4.29 | 2.84 | 4.52 |
| DYS392 | Yf/PP/YfP/L | 3 | 6 | 1166 | 2.57 | 0.00 | 6.00 | 5.15 | 1.72 | 9.43 | 0.58 | 1.13 |
| DYS393 | Yf/PP/YfP/L | 3 | 3 | 1166 | 2.57 | 0.00 | 6.00 | 2.57 | 0.00 | 6.00 | 1.71 | 1.13 |
| DYS385 (a-b) | Yf/PP/YfP/L | 8 | 8 | 1166 | 6.86 | 2.57 | 12.01 | 6.86 | 2.57 | 12.01 | 5.33 | 5.37 |
| DYS437 | Yf/PP/YfP/L | 4 | 4 | 1166 | 3.43 | 0.86 | 6.86 | 3.43 | 0.86 | 6.86 | 1.14 | 3.11 |
| DYS438 | Yf/PP/YfP/L | 0 | 0 | 1166 | — | — | — | — | — | — | 0.57 | 0.28 |
| DYS439 | Yf/PP/YfP/L | 7 | 9 | 1166 | 6.00 | 1.72 | 11.15 | 7.72 | 3.43 | 12.86 | 3.46 | 3.67 |
| DYS448 | Yf/PP/YfP/L | 2 | 2 | 1166 | 1.72 | 0.00 | 4.29 | 1.72 | 0.00 | 4.29 | 0.00 | 1.13 |
| DYS456 | Yf/PP/YfP/L | 3 | 3 | 1166 | 2.57 | 0.00 | 6.00 | 2.57 | 0.00 | 6.00 | 4.55 | 7.91 |
| DYS458 | Yf/PP/YfP/L | 12 | 13 | 1166 | 10.29 | 5.15 | 16.30 | 11.15 | 5.15 | 17.15 | 7.97 | 9.04 |
| DYS635 | Yf/PP/YfP/L | 2 | 2 | 1166 | 1.72 | 0.00 | 4.29 | 1.72 | 0.00 | 4.29 | 3.46 | 5.65 |
| GATA H4.1 | Yf/PP/YfP/L | 3 | 3 | 1166 | 2.57 | 0.00 | 6.00 | 2.57 | 0.00 | 6.00 | 2.85 | 1.98 |
| DYS481 | PP/YfP/L | 3 | 3 | 810 | 3.70 | 0.00 | 8.64 | 3.70 | 0.00 | 8.64 | 4.59 | 6.22 |
| DYS533 | PP/YfP/L | 3 | 3 | 810 | 3.70 | 0.00 | 8.64 | 3.70 | 0.00 | 8.64 | 4.62 | 3.96 |
| DYS570 | PP/YfP/RM/L | 9 | 9 | 1166 | 7.72 | 3.43 | 12.86 | 7.72 | 3.43 | 12.86 | 11.92 | 9.89 |
| DYS576 | PP/YfP/RM/L | 10 | 11 | 1166 | 8.58 | 3.43 | 14.58 | 9.43 | 4.29 | 15.44 | 13.90 | 7.91 |
| DYS549 | PP/L | 8 | 8 | 810 | 9.88 | 3.70 | 17.28 | 9.88 | 3.70 | 17.28 | 4.16 | 4.52 |
| DYS643 | PP/L | 0 | 0 | 810 | — | — | — | — | — | — | 1.13 | 1.13 |
| DYS460 | YfP/L | 1 | 1 | 718 | 1.39 | 0.00 | 4.18 | 1.39 | 0.00 | 4.18 | 5.82 | 4.52 |
| DYS518 | YfP/RM/L | 18 | 18 | 1166 | 15.44 | 8.58 | 23.16 | 15.44 | 8.58 | 23.16 | 17.99 | 18.65 |
| DYS627 | YfP/RM/L | 17 | 19 | 1166 | 14.58 | 7.72 | 21.44 | 16.30 | 9.43 | 24.01 | 11.89 | 15.55 |
| DYF387S1 | YfP/RM/L | 13 | 13 | 1166 | 11.15 | 5.15 | 17.15 | 11.15 | 5.15 | 17.15 | 15.52 | 15.26 |
| DYS449 | YfP/RM/L | 9 | 9 | 1166 | 7.72 | 3.43 | 12.86 | 7.72 | 3.43 | 12.86 | 11.75 | 11.59 |
| DYS459 (a-b) | L | 0 | 0 | 718 | — | — | — | — | — | — | 2.30 | 2.54 |
| DYS724 (a-b) | L | 25 | 29 | 718 | 34.82 | 22.28 | 48.75 | 40.39 | 26.46 | 55.71 | — | 29.11 |
| DYS607 | L | 0 | 0 | 718 | — | — | — | — | — | — | — | 2.54 |
| DYS455 | L | 0 | 0 | 718 | — | — | — | — | — | — | 0.00 | 1.41 |
| DYS426 | L | 1 | 1 | 718 | 1.39 | 0.00 | 4.18 | 1.39 | 0.00 | 4.18 | 0.00 | 1.13 |
| DYS454 | L | 0 | 0 | 718 | — | — | — | — | — | — | 0.00 | 0.28 |
| DYS447 | L | 3 | 3 | 718 | 4.18 | 0.00 | 9.75 | 4.18 | 0.00 | 9.75 | 1.74 | 3.67 |
| DYS442 | L | 2 | 2 | 718 | 2.79 | 0.00 | 6.96 | 2.79 | 0.00 | 6.96 | 9.35 | 4.80 |
| DYS464 (a-b-c-d) | L | 17 | 23 | 718 | 23.68 | 13.93 | 34.82 | 32.03 | 19.50 | 45.96 | 27.51 | — |
| YCAII (a-b) | L | 0 | 0 | 718 | — | — | — | — | — | — | — | 1.13 |
| DYS388 | L | 0 | 0 | 718 | — | — | — | — | — | — | 0.00 | 0.28 |
| DYF399S1 | RM | 70 | 74 | 1149 | 60.92 | 47.87 | 74.85 | 64.40 | 50.48 | 79.20 | 77.48 | — |
| DYS526A | RM | 1 | 1 | 1166 | 0.86 | 0.00 | 2.57 | 0.86 | 0.00 | 2.57 | 2.33 | — |
| DYS626 | RM | 9 | 10 | 1166 | 7.72 | 3.43 | 12.86 | 8.58 | 3.43 | 14.58 | 11.84 | — |
| DYS526B | RM | 5 | 6 | 1166 | 4.29 | 0.86 | 8.58 | 5.15 | 1.72 | 9.43 | 12.11* | — |
| DYS612 | RM | 16 | 19 | 1166 | 13.72 | 7.72 | 20.58 | 16.30 | 9.43 | 24.01 | 14.15 | — |
| DYS547 | RM | 15 | 16 | 1166 | 12.86 | 6.86 | 19.73 | 13.72 | 7.72 | 20.58 | 23.23 | — |
| DYF404S1 | RM | 14 | 17 | 1166 | 12.01 | 6.00 | 18.87 | 14.58 | 7.72 | 21.44 | 12.08 | — |
| DYF403S1a | RM | 29 | 29 | 1152 | 25.17 | 16.49 | 34.72 | 25.17 | 16.49 | 34.72 | 30.59 | — |
| DYF403S1b | RM | 4 | 5 | 1166 | 3.43 | 0.86 | 6.86 | 4.29 | 0.86 | 8.58 | 11.41* | — |
| Panel | ||||||||||||
| Yfiler (Yf) | 63 | 69 | 18656 | 3.38 | 2.57 | 4.23 | 3.70 | 2.84 | 4.61 | 3.01 | 3.67 | |
| PowerPlex Y23 (PP) | 96 | 103 | 24228 | 3.96 | 3.18 | 4.79 | 4.25 | 3.47 | 5.08 | 3.95 | 4.20 | |
| Yfiler Plus (YfP) | 146 | 155 | 27990 | 5.22 | 4.39 | 6.07 | 5.54 | 4.68 | 6.43 | 5.74 | 6.09 | |
| Leuven (L) | 202 | 221 | 37508 | 5.39 | 4.67 | 6.13 | 5.89 | 5.12 | 6.69 | — | 5.54^ | |
| Rapidly Mutating (RM) | 239 | 256 | 17459 | 13.69 | 11.97 | 15.46 | 14.66 | 12.89 | 16.50 | 18.80** | — | |
| All | 365 | 398 | 47971 | 7.61 | 6.84 | 8.40 | 8.30 | 7.50 | 9.11 | — | — | |
Locus-specific and panel-wise estimates (Val) along with the corresponding 95% confidence intervals (CI) are calculated both with all mutations as single events (Single) and with multi-step mutations as sum of independent events (Multi). Reference values extracted from the literature are also included, with FS = Father-Son pairs20 and GP = Genealogical Pairs21. Significant comparisons (Fisher tests) are highlighted in bold, with *p < 0.05 and **p < 0.005.