Hereditas(Beijing) ›› 2026, Vol. 48 ›› Issue (4): 355-376.doi: 10.16288/j.yczz.25-152
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Lei Miao1(
), Chi Zhang2, Kelai Kang2, Xue Bai2, Keli Guo2, Li Yuan1(
), Le Wang2(
)
Received:2025-07-17
Revised:2025-09-30
Online:2026-04-20
Published:2025-10-10
Contact:
Li Yuan, Le Wang
E-mail:947676188@qq.com;yuanliwcy@126.com;wangle_02@163.com
Supported by:Lei Miao, Chi Zhang, Kelai Kang, Xue Bai, Keli Guo, Li Yuan, Le Wang. Analysis and application of sequence polymorphism features of 41 forensic Y-chromosome short tandem repeat loci[J]. Hereditas(Beijing), 2026, 48(4): 355-376.
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Table 1
Repeat structures and reported repeat region sequences of 41 Y-STR loci"
| 基因座 | Y染色体上重复区 物理位置(GRCh38) | 重复结构[ | 常见重复区序列 | 参考文献 |
|---|---|---|---|---|
| DYS385a/b | 18680632~18680687 | [TTTC]a | [TTTC]7~24 | [ |
| 18639713~18639756 | [TTTC]2 CTTC[TTTC]10 | [ | ||
| [TTTC]10T GTC[TTTC]5 | [ | |||
| [TTTC]13,15TTT A[TTTC]2 | [ | |||
| [TTTC]11,17 CCTT | [ | |||
| [TTTC]13,14 CCTTCCTT | [ | |||
| [TTTC]8 T[TTTC]4 | [ | |||
| [TTTC]11 TT[TTTC]2 | [ | |||
| DYS391 | 11982089~11982132 | [TCTA]a | [TCTA]6~13 | [ |
| [TCTA]8~9 CCTA[TCTA] | [ | |||
| TCT G[TCTA]9~10 | [ | |||
| [TCTA]8TCT G[TCTA] | [ | |||
| DYS392 | 20471987~20472025 | [ATA]a | [ATA]7~16 | [ |
| [ATA]10,12~13A AA | [ | |||
| DYS393 | 3263111~3263158 | [AGAT]a | [AGAT]10~16 | [ |
| CGAT[AGAT]10~16 | [ | |||
| DYS438 | 12825889~12825948 | [TTTTC]a | [TTTTC]6~14 | [ |
| TTTT A[TTTTC]7,9 | [ | |||
| [TTTTC]TTTT A[TTTTC]8~9 | [ | |||
| [TTTTC]TTTT A[TTTTC]3TTTT A[TTTTC]4 | [ | |||
| DYS439 | 12403517~12403564 | [GATA]a | [GATA]8~15 | [ 24] |
| DYS456 | 4402919~4402978 | [AGAT]a | [AGAT]12~19 | [ |
| DYS458 | 7999839~7999902 | [GAAA]a | [GAAA]10,13~22 | [ |
| [GAAA]11 TAAA[GAAA]8 | [ | |||
| [GAAA]13~19G GAA | [ | |||
| [GAAA]10,13G GAA[GAAA]1,6 | [ | |||
| [GAAA]13G GAAG GAA | [ | |||
| GAA G[GAAA]18~22 | [ | |||
| GAA GGAA G[GAAA]18~19 | [ | |||
| [GAAA]14~17 AA[GAAA]2~3 | [ | |||
| [GAAA]2 AA[GAAA]14 | [ | |||
| DYS481 | 8558337~8558402 | [CTT]a | [CTT]17~32 | [ 33] |
| CT G[CTT]18~30 | [ | |||
| CT GCT G[CTT]19~21,24~25 | [ | |||
| [CTT]21C CT[CTT]2 | [ | |||
| CT G[CTT]3C CT[CTT]24 | [ | |||
| DYS533 | 16281349~16281396 | [TATC]a | [TATC]9~15 | [ |
| [TATC]7T GTC[TATC]3 | [ | |||
| [TATC]TAT A[TATC]9 | [ | |||
| DYS576 | 7185318~7185385 | [AAAG]a | [AAAG]11~22 | [ |
| [AAAG]16 GAAG[AAAG]4 | [ | |||
| A[AAAG]16 | [ | |||
| Y-GATA-H4 | 16631673~16631720 | [TCTA]a | [TCTA]8~15 | [ |
| [TCTA]7TC AA[TCTA]3 | [ | |||
| [TCTA]8TCT G[TCTA]3 | [ | |||
| DYS444 | 17114310~17114365 | [TAGA]a | [TAGA]10~15 | [ |
| [TAGA]2TA TA[TAGA]13 | [ | |||
| DYS460 | 18888956~18888995 | [CTAT]a | [CTAT]7~13 | [ |
| [CTAT]10 GTAT | [ | |||
| [CTAT]8 GTAT[CTAT] | [ | |||
| DYS549 | 19358338~19358389 | [GATA]a | [GATA]9~16 | [ |
| [GATA]13GAT C | [ | |||
| [GATA]5GAT C[GATA]7 | [ | |||
| DYS557 | 21072826~21072889 | [TTTC]a | [TTTC]12~21 | [ |
| DYS570 | 6993190~6993257 | [TTTC]a | [TTTC]12~23 | [ |
| T CTC[TTTC]14 | [ | |||
| [TTTC]15 CTTC[TTTC] | [ | |||
| [TTTC]5T CTC[TTTC]13,15~17 | [ | |||
| TT CC[TTTC]16~21 | [ | |||
| [TTTC]15TT CC[TTTC]3 | [ | |||
| [TTTC]20TT CC | [ | |||
| [TTTC]9TTT G[TTTC]7 | [ | |||
| [TTTC]TTT A[TTTC]18 | [ | |||
| DYS643 | 15314132~15314186 | [CTTTT]a | [CTTTT]7~17 | [ |
| [CTTTT]5,8CTTT A[CTTTT]1,6 | [ | |||
| [CTTTT]4CTTT C[CTTTT]6 | [ | |||
| [CTTTT]8 C[CTTTT]3 | [ | |||
| DYS388 | 12635604~12635639 | [AAT]a | [AAT]10~15 | [ |
| DYF404S1a/b | 23807934~23807997 | [TTTC]a | [TTTC]9~19 | [ |
| 25862092~25862147 | ||||
| TT[TTTC]14 | [ | |||
| [TTTC]11,12,14 TT[TTTC]2 | [ | |||
| DYS522 | 7547585~7547624 | [ATAG]a | [ATAG]8~15 | [ |
| [ATAG]9A CAG | [ | |||
| DYS645 | 21166022~21166061 | [TGTTT]a | [TGTTT]7~10 | [ |
| DYS389-I | 12500448~12500495 | [TAGA]a[CAGA]b | [TAGA]6~13[CAGA]2~4 | [8, 36] |
| DYS437 | 12346267~12346326 | [TCTA]a[TCTG]b[TCTA]c | [TCTA]7~11[TCTG]1~4[TCTA]4 | [ |
| [TCTA]4 GCTA[TCTA]4[TCTG]2[TCTA]4 | [ | |||
| TCT G[TCTA]8[TCTG]2[TCTA]4 | [ | |||
| [TCTA]4~6TCT G[TCTA]2~3[TCTG]2[TCTA]4 | [ | |||
| [TCTA]8[TCTG]CCTG[TCTA]4 | [ | |||
| [TCTA]7,10~11[TCTG]2[TCTA]4TCT G | [ | |||
| [TCTA]10[TCTG]2[TCTA]2TCT G[TCTA] | [ | |||
| DYS635 | 12258860~12258951 | [TAGA]a[TACA]b[TAGA]c [TACA]d[TAGA]e[TACA]f [TAGA]g | [TAGA]7~16[TACA]1~4[TAGA]2[TACA]2[TAGA]4~5 | [ |
| [TAGA]6~13[TACA]1~3[TAGA]2[TACA]2[TAGA]2[TACA]2 [TAGA]4 | [8, 33] | |||
| [TAGA]8~9 CAGA[TAGA][TACA]2[TAGA]2[TACA]2 [TAGA]4 | [ | |||
| [TAGA]2 TGA[TAGA]5[TACA]2[TAGA]2[TACA]2 [TAGA]2[TACA]2[TAGA]4 | [ | |||
| [TAGA]11[TACA]2[TAGA]2[TACA]2[TAGA]2 AAGA [TAGA] | [ | |||
| DYS527a/b | 23739648~23739735 | [GAAA]a[GGAA]b | [GAAA]10~22[GGAA]3~9 | [ |
| 25930349~25930428 | ||||
| [GAAA]3 A[GAAA]11[GGAA]7 | [ | |||
| [GAAA]5[GGAA]A[GAAA]8[GGAA]7 | [ | |||
| DYS596 | 8519499~8519594 | [GGA]a[GTA]b[GGA]c[GAA]d [(GGA)(GAA)]e | [GGA]5[GTA][GGA]3[GAA]3[(GGA)(GAA)]8~12 | [ |
| DYS627 | 8781972~8782055 | [AGAG]a[AAAG]b | [AGAG]2~4[AAAG]12~23 | [ |
| [AGAG]3[AAAG]7 TAAG[AAAG]10 | [ | |||
| [AGAG]2~3 AG[AAAG]17~19 | [ | |||
| [AGAG]3[AAAG]4 AA[AAAG]10 | [ | |||
| DYS19 | 9684380~9684443 | [TCTA]aCCTA[TCTA]b | [TCTA]8~16CCTA[TCTA]2~3 | [8, 33] |
| [TCTA]13 | [ | |||
| [TCTA]13C TTA[TCTA]3 | [ | |||
| DYS389-II | 12500448~12500611 | [TAGA]a[CAGA]bN48[TAGA]c [CAGA]d | [TAGA]6~13[CAGA]2~4N48[TAGA]8~15[CAGA]3~7 | [8, 36] |
| [TAGA]11[CAGA]3N48[TAGA]9TAG G[TAGA]3[CAGA]4 | [ | |||
| [TAGA]9~11[CAGA]3N48[TAGA]10~12[CAGA]3~5CA CA | [ | |||
| [TAGA]9~11[CAGA]3N48[TAGA]11~13 CAGA TAGA [CAGA]5 | [ | |||
| [TAGA]10[CAGA]3N11 GN36[TAGA]12[CAGA]5 | [ | |||
| [TAGA]9[CAGA]3N36 CN11[TAGA]12[CAGA]5 | [ | |||
| DYS390 | 15163067~15163162 | [TAGA]aCAGA[TAGA]b [CAGA]c | [TAGA]2~5CAGA[TAGA]7~14[CAGA]4~10 | [8, 33] |
| [TAGA]11,13~16[CAGA]8 | [ | |||
| [TAGA]4CAGA CAGA[TAGA]12[CAGA]8 | [ | |||
| [TAGA]4CAGATA TA[TAGA]7[CAGA]8 | [ | |||
| [TAGA]4CAGA[TAGA]2TAG T[TAGA]5[CAGA]8 | [ | |||
| [TAGA]4CAGA[TAGA]10~12[CAGA]7~8 TAGA | [ | |||
| DYS448 | 22218923~22219078 | [AGAGAT]aN42[AGAGAT]b | [AGAGAT]5~15N42[AGAGAT]6~11 | [ |
| TGAGAT[AGAGAT]11N42[AGAGAT]8 | [ | |||
| [AGAGAT]8A AAGAT[AGAGAT]2N42[AGAGAT]8 | [ | |||
| [AGAGAT]AG TGAT[AGAGAT]10N42[AGAGAT]8 | [ | |||
| AGAGA C[AGAGAT]9N42[AGAGAT]8 | [ | |||
| [AGAGAT]2AGAGA C[AGAGAT]9N42[AGAGAT]9 | [ | |||
| [AGAGAT]9 AGN42[AGAGAT]8 | [ | |||
| [AGAGAT]3 AGAT[AGAGAT]9N42[AGAGAT]8 | [ | |||
| [AGAGAT]12N42[AGAGAT]AGA AAT[AGAGAT]7 | [ | |||
| [AGAGAT]11N42[AGAGAT]4 GAGAT[AGAGAT]3 | [ | |||
| [AGAGAT]11,13 N 36[AGAGAT]8 * | [ | |||
| [AGAGAT]12 N 36[AGAGAT]9 ** | [ | |||
| [AGAGAT]12 N 36[AGAGAT]9 *** | [ | |||
| [AGAGAT]10,11 N 38[AGAGAT]9 **** | [ | |||
| [AGAGAT]9,11,13A GN40[AGAGAT]8 | [ | |||
| [AGAGAT]11N18 CN23[AGAGAT]8 | [ | |||
| [AGAGAT]11N31 CN10[AGAGAT]9 | [ | |||
| [AGAGAT]11N41 T[AGAGAT]3 | [ | |||
| DYF387S1a/b | 23785361~23785500 | [AAAG]aGTAG[GAAG]b [AAAG]cGAAG[AAAG]d [GAAG]e[AAAG]f | [AAAG]3GTAG[GAAG]3~4[AAAG]2GAAG[AAAG]1~3 [GAAG]5~13[AAAG]10~19 | [ |
| 25884581~25884724 | ||||
| [AAAG]3[GAAG]5[AAAG]2GAAG[AAAG]1~2[GAAG]11~12 [AAAG]15,17 | [ | |||
| A[AAAG]3GTAG[GAAG]4[AAAG]2GAAG[AAAG]2 [GAAG]9[AAAG]14 | [ | |||
| [AAAG]3GTAG[GAAG]4[AAAG]2GAAG[AAAG]AA [AAAG][GAAG]11[AAAG]16 | [ | |||
| [AAAG]3GTAG[GAAG]4[AAAG]2GAAG[AAAG]2 [GAAG]11[AAAG]2 AG[AAAG]11 | [ | |||
| DYS447 | 13166826~13166950 | [TTATA]aTTATT[TTATA]b TTATT[TTATA]c | [TTATA]6~10TTATT[TTATA]6~13TTATT[TTATA]6~11 | [ |
| [TTATA]8,11TTATT[TTATA]7,12 | [ | |||
| [TTATA]6TTATT[TTATA]11TTATT TTATT[TTATA]8 | [ | |||
| DYS449 | 8349973~8350138 | [TTTC]aN50[TTTC]b | [TTTC]11~18N50[TTTC]11~22 | [ |
| CTTC[TTTC]15N50[TTTC]15 | [ | |||
| [TTTC]9 CTTC[TTTC]7N50[TTTC]18 | [ | |||
| [TTTC]2T ATC[TTTC]12N50[TTTC]16 | [ | |||
| [TTTC]14T CTCN50[TTTC]14 | [ | |||
| [TTTC]5T CTC[TTTC]12N50[TTTC]18 | [ | |||
| T CTC[TTTC]15N50[TTTC]13 | [ | |||
| [TTTC]8 TT[TTTC]6N50[TTTC]15 | [ | |||
| [TTTC]16N50[TTTC]10 TT[TTTC]4 | [ | |||
| DYS518 | 15207988~15208145 | [AAAG]aGAAG[AAAG]b GGAG[AAAG]cGAAGAG [AAAG]d | [AAAG]3GAAG[AAAG]10~21GGAG[AAAG]3~4GAAGAG [AAAG]10~19 | [ |
| [AAAG]16GGAG[AAAG]4GAAGAG[AAAG]15 | [ | |||
| [AAAG]17GGAG[AAAG]4GAAGAG[AAAG]13 GAAG | [ | |||
| [AAAG]3GAAG[AAAG]15~16GGAG[AAAG]4GAAGAG [AAAG]11,12,14 GAAG | [ | |||
| [AAAG]3GAAG[AAAG]16GGAG[AAAG]4GAAGAG [AAAG]12 GAAG GAAG | [ | |||
| [AAAG]3GAAG[AAAG]16GGAG[AAAG]4GAAGAG [AAAG]2AAA A[AAAG]10 | [ | |||
| [AAAG]3GAAG[AAAG]2 AA[AAAG]12~14GGAG[AAAG]4 GAAGAG[AAAG]12~14 | [ | |||
| [AAAG]3 GAAG[AAAG]18GAAGAG[AAAG]15 | [ | |||
| DYS593 | 16473883~16473956 | [AAAAC]aAAAAT[AAAAC]b [AAAAT]c | [AAAAC]2AAAAT[AAAAC]4[AAAAT]7~12 | [ |
Table 2
Haplogroup-associated markers within the repeat regions and 200 bp flanking regions of 41 Y-STR loci"
| 基因座 | Y染色体上物理位置(GRCh38) | 相对重复区的位置(bp) | 标记名称 | 单倍群 | 变异 | rs号 |
|---|---|---|---|---|---|---|
| DYS19 | 9684623 | +180 | Z18538 | D1a2a1a3~ | A>C | / |
| DYS389-I/II | 12500272 | -176 | CTS2995/M8749 | B2~ | C>A | rs111696152 |
| 12500532 | +37* | A6559/Y16707 | I1a2b3a1b1~ | T>C | / | |
| 12500588 | +93* | A4862 | A00 | T>C | rs9786604 | |
| 12500592 | +97* | M2176 | D1a2a1c1a1b1~ | C>T | rs200724135 | |
| DYS390 | 15162929 | -138 | L909 | R1b1a1b1a1a2c1a2~ | G>A | / |
| 15163163 | +1 | L594 | R1b1a1b1a1a2b1~ | T>C | rs758940870 | |
| 15163167 | +5 | CTS7083/L664/S298 | R1a1a1a1 | T>G | rs766823340 | |
| 15163182 | +20 | Z19037 | H2a1a1a~ | G>A | / | |
| 15163295 | +133 | CTS7084 | E1a2a1b1~ | A>C | rs779422325 | |
| DYS391 | 11981948 | -141 | ZS6612 | J1a2a1b1a~ | C>T | / |
| 11982182 | +50 | CTS1866/M8738 | B2~ | C>A | rs112815242 | |
| 11982219 | +87 | CTS1867/M5443/PF1624 | E1b1~ | C>G | rs73620086 | |
| 11982273 | +141 | F11313 | C2a1a3a6b1~ | T>G | / | |
| DYS392 | 20472205 | +180 | NIST1/Y12381 | G2a2b2a1a1a1b1 | G>C | rs941310787 |
| DYS393 | 3262951 | -160 | FT165447 | G2a2b1b1a1b1d1b~ | C>G | / |
| DYS437 | 12346247 | -20 | YP667 | R1a1a1b2a2b2a~ | G>A | / |
| 12346264 | -3 | M4790 | E1b1a | C>T | rs9786886 | |
| 12346376 | +50 | Z15223 | E1a2a2 | T>C | rs758953715 | |
| 12346410 | +84 | BY50200 | I2a1b2a1a1 | T>C | / | |
| 12346449 | +123 | BY32476 | R1a1a1b1a2b3a3a2d~ | C>T | / | |
| DYS438 | 12825765 | -124 | M7968 | B2b1a1c2~ | A>G | rs369247501 |
| 12825898 | IN | F11559 | C2a | C>A | rs2148290541 | |
| 12825989 | +41 | BY211512 | D2 | T>C | / | |
| 12825903 | IN | L1229 | I2a1b1a1b1 | C>A | rs866931087 | |
| 12825955 | +7 | L255 | J1 | A>C | rs760613324 | |
| DYS439 | 12403455 | -62 | L1/S26 | R1b1a1b1a1a1c1a2a | C>T | rs750746218 |
| 12403651 | +87 | L746/S310 | R1b1a1b1a1a2c1a1d1a | C>T | rs1251579421 | |
| 12403673 | +109 | Z5894 | N1a1a1a1a2a1a1a1b1b~ | G>A | rs768091692 | |
| DYS448 | 22218752 | -171 | Z5045 | N~ | G>C | rs947307733 |
| DYS456 | 4402761 | -158 | Y148203/ZQ363 | C2a1a3a6a | A>G | / |
| DYS481 | 8558280 | -57 | L417/S332 | I2b | T>C | rs867108134 |
| 8558321 | -16 | L266/PF6108 | R2 | G>A | rs368663163 | |
| 8558414 | +12 | FGC22049 | I1a1b1a1e2d3~ | G>A | rs1301469216 | |
| DYS533 | 16281279 | -70 | Z5606 | B3~ | C>A | rs997776572 |
| 16281307 | -42 | Z21886 | E1b1a1a1a2a1a3b1a12 | C>G | / | |
| DYS576 | 7185144 | -174 | M2716 | H1a1a4b | C>A | rs564333556 |
| 7185531 | +146 | FGC12290 | R1b1a1b1a1a2c1a4b2a1b | G>A | rs985272522 | |
| 7185535 | +150 | Z30903 | M1 | C>T | / | |
| 7185577 | +192 | CTS863/M1067 | Q1b | T>C | rs533270637 | |
| DYS635 | 12258794 | -66 | FGC15938/Y6095 | J1a2a1a2d2b2b2c4b2b~ | A>C | rs767163356 |
| 12259088 | +137 | CTS2593/M3521/PF2947 | G2 | C>A | rs571459235 | |
| 12259148 | +197 | PF6908 | I2a2a2a1a~ | C>T | / | |
| Y-GATA-H4 | 16631756 | +36 | Y15322/Z34275 | D1a1b1a | A>G | / |
| DYS444 | 17114537 | +172 | AM00760/Z33187 | C1b1a2b | A>C | rs377741326 |
| 17114550 | +185 | FGC16458/Y4616/Z18166 | C2a | C>A | rs966666904 | |
| DYS449 | 8350318 | +180 | MF7253 | O2a1b1a2a1a3a1b | G>A | / |
| DYS460 | 18889120 | +125 | S22509 | I1a1b1a1e2a~ | T>G | rs996177226 |
| DYS518 | 15207837 | -151 | A8673 | I1a2a1a1a1a1b2~ | G>C | / |
| 15207843 | -145 | Z6417 | G2a2b2a1a1c1a1a3a~ | C>T | / | |
| 15207961 | -27 | Z42071 | S1d | C>A | / | |
| 15207976 | -12 | Y18222 | Q1b1a1b1a2~ | T>G | / | |
| DYS549 | 19358154 | -184 | M8467 | B2b1a1~ | G>T | rs377289496 |
| 19358487 | +98 | FGC7345 | G2a2b2b1a1b1a2 | G>T | / | |
| 19358532 | +143 | Z35436 | G2a1a3a~ | A>T | rs1052037290 | |
| DYS557 | 21072638 | -188 | FGC92075 | G2a2b2b1b2c~ | G>A | / |
| 21072966 | +77 | Y1571 | CT | G>A | rs113094957 | |
| 21073003 | +114 | CTS11714/Z1697 | E1b1a1a1a1c1a1a3a1c1b | C>A | / | |
| 21073020 | +131 | BY196449 | G2a2b2b1a2b~ | G>T | / | |
| DYS570 | 6993034 | -156 | L537/PF1507 | E | G>A | rs9786374 |
| 6993067 | -123 | FT52857 | G2a2b2a4a3~ | A>G | rs940797101 | |
| 6993388 | +131 | Z17878 | G1b1 | T>A | rs1019886325 | |
| DYS596 | 8519430 | -69 | FGC4411/Y14642 | J1a2a1a2d2b2b2c4d2a2a4a3a1b~ | G>A | rs866228777 |
| 8519498 | -1 | M3481/PF2880 | G | G>A | rs547817702 | |
| 8519779 | +185 | YP1545 | R1a1a1b2a2a3b1a~ | A>G | rs997182728 | |
| DYS627 | 8781866 | -106 | BY202840 | C2b1b1b5~ | A>T | / |
| 8781867 | -105 | Y17871 | E1b1a2a~ | G>C | / | |
| DYS643 | 15314056 | -76 | FGC51456 | R1b1a1b1a1a1c2b1b4a3a2 | G>T | / |
| 15314156 | IN | L936 | Q1b2b1b2b2~ | T>C | / | |
| 15314236 | +50 | Y15373/Z34265 | D1a1b1a | G>A | / | |
| 15314237 | +51 | L143 | E1b1b1a1b1a2a~ | G>T | rs1030966993 | |
| DYS388 | 12635580 | -24 | Z27302 | D1a1a1a1 | G>A | / |
| DYS593 | 16473694 | -189 | YP1099 | R1a1a1b1a2a2a~ | C>T | rs937575049 |
| 16474062 | +106 | BY201170 | G2a2b2a4a1a1b2a~ | T>C | / | |
| DYS645 | 21165850 | -172 | Z38205 | B2b1a2a~ | C>A | rs367668646 |
| 21166084 | +23 | M3423/PF3319 | G2a2b1 | G>A | rs575331280 |
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