遗传 ›› 2025, Vol. 47 ›› Issue (11): 1269-1283.doi: 10.16288/j.yczz.24-353
• 技术与方法 • 上一篇
收稿日期:2025-03-15
修回日期:2025-06-27
出版日期:2025-11-20
发布日期:2025-07-14
通讯作者:
郭甜利,硕士,助理研究员,研究方向:法医DNA、证据量化。E-mail: guotianli1@163.com基金资助:
Tianli Guo(
), Tao Zhang, Hua Guan, Yuguang Wang, Li Chen
Received:2025-03-15
Revised:2025-06-27
Published:2025-11-20
Online:2025-07-14
Supported by:摘要:
在法庭科学领域,犯罪现场的混合DNA证据常包含多个个体遗传信息,其准确解析是案件侦破和司法裁决的关键。随着法医遗传学技术的发展,虽检测能力有所提升,但多供者分型解析仍存在瓶颈,传统方法难以同时精准推断嫌疑人基因型及贡献比例,无法满足复杂混合样本解析的高要求。针对上述问题,本文提出基于概率残差优化的伽马分布连续模型算法,通过构建两步概率评估架构,先基于等位基因排列组合生成候选基因型组合并计算初步贡献比例,再引入伽马分布假设构建概率密度函数,动态优化形状参数α和尺度参数β以计算残差概率权重,经迭代式极大似然估计同步优化基因型组合与贡献度参数,结合群体基因频率数据库输出最大似然值解析结果。该算法可为司法鉴定提供可量化评估的可靠工具,显著提升复杂混合样本解析准确性,增强混合DNA辅助侦查效能,对推动法庭科学技术进步、保障司法公正意义重大。
郭甜利, 张涛, 管桦, 王宇光, 陈力. 基于伽马模型的混合DNA证据解释方法[J]. 遗传, 2025, 47(11): 1269-1283.
Tianli Guo, Tao Zhang, Hua Guan, Yuguang Wang, Li Chen. A method for interpreting mixed DNA evidence based on the gamma model[J]. Hereditas(Beijing), 2025, 47(11): 1269-1283.
表1
等位基因期望峰高与观测峰高的残差和"
| 等位基因 | 供者1贡献高度 | 供者2贡献高度 | 供者3贡献高度 | 供者4贡献高度 | 残差平方和 |
|---|---|---|---|---|---|
| B | |||||
| D | |||||
| E | |||||
| G | |||||
| H |
表2
混合样本1的等位基因峰高信息"
| 位点 | 基因1 | 基因2 | 基因3 | 基因4 | 基因5 | 基因6 | 高度1 | 高度2 | 高度3 | 高度4 | 高度5 | 高度6 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D8S1179 | 12 | 13 | 14 | 15 | 1,831 | 1,264 | 386 | 1,716 | ||||
| D21S11 | 29 | 30 | 31.2 | 32.2 | 570 | 2,254 | 292 | 1,255 | ||||
| D7S820 | 8 | 10 | 11 | 14 | 185 | 407 | 1,662 | 922 | ||||
| CSF1PO | 9 | 10 | 11 | 12 | 13 | 1,269 | 480 | 306 | 903 | 1,238 | ||
| D3S1358 | 14 | 15 | 17 | 18 | 1,045 | 3,198 | 2,693 | 409 | ||||
| TH01 | 6 | 8 | 9 | 9.3 | 2,834 | 843 | 2,321 | 1,377 | ||||
| D13S317 | 9 | 11 | 12 | 380 | 2,658 | 4,184 | ||||||
| D16S539 | 9 | 11 | 12 | 13 | 2,318 | 1,570 | 3,020 | 429 | ||||
| D2S1338 | 19 | 22 | 23 | 24 | 25 | 2,418 | 462 | 1,146 | 1,752 | 312 | ||
| D19S433 | 13 | 14 | 15 | 2,262 | 1,359 | 2,096 | ||||||
| vWA | 14 | 16 | 17 | 18 | 19 | 2,013 | 618 | 3,344 | 700 | 378 | ||
| TPOX | 8 | 9 | 11 | 3,530 | 368 | 2,703 | ||||||
| D18S51 | 15 | 16 | 18 | 19 | 22 | 23 | 2,165 | 326 | 606 | 410 | 177 | 1,273 |
| AMEL | X | Y | 2,800 | 1,902 | ||||||||
| D5S818 | 10 | 11 | 12 | 13 | 1,375 | 1,251 | 588 | 1,632 | ||||
| FGA | 20 | 23 | 24 | 25 | 26 | 254 | 783 | 1,844 | 1,181 | 239 |
表3
混合样本2的等位基因峰高信息"
| 位点 | 基因1 | 基因2 | 基因3 | 基因4 | 基因5 | 高度1 | 高度2 | 高度3 | 高度4 | 高度5 |
|---|---|---|---|---|---|---|---|---|---|---|
| D8S1179 | 12 | 13 | 15 | 1,963 | 1,380 | 1,560 | ||||
| D21S11 | 29 | 30 | 32.2 | 388 | 2,459 | 1,340 | ||||
| D7S820 | 10 | 11 | 14 | 434 | 1,607 | 995 | ||||
| CSF1PO | 9 | 10 | 11 | 12 | 13 | 1,346 | 505 | 270 | 462 | 1,314 |
| D3S1358 | 14 | 15 | 17 | 1,134 | 3,408 | 2,431 | ||||
| TH01 | 6 | 8 | 9 | 9.3 | 2,528 | 933 | 2,436 | 944 | ||
| D13S317 | 11 | 12 | 2,398 | 4,348 | ||||||
| D16S539 | 9 | 11 | 12 | 1,956 | 1,584 | 3,153 | ||||
| D2S1338 | 19 | 23 | 24 | 2,538 | 1,158 | 1,798 | ||||
| D19S433 | 13 | 14 | 15 | 2,013 | 1,088 | 2,199 | ||||
| vWA | 14 | 17 | 18 | 2,121 | 3,488 | 726 | ||||
| TPOX | 8 | 9 | 11 | 3,746 | 362 | 2,142 | ||||
| D18S51 | 15 | 18 | 19 | 23 | 2,221 | 325 | 419 | 1,324 | ||
| AMEL | X | Y | 2,713 | 1,707 | ||||||
| D5S818 | 10 | 11 | 13 | 1,451 | 1,290 | 1,676 | ||||
| FGA | 23 | 24 | 25 | 26 | 588 | 1,911 | 1,233 | 221 |
表4
混合样本3的等位基因峰高信息"
| 位点 | 基因1 | 基因2 | 基因3 | 高度1 | 高度2 | 高度3 |
|---|---|---|---|---|---|---|
| D8S1179 | 12 | 13 | 609 | 3,674 | ||
| D21S11 | 29 | 30 | 453 | 2,567 | ||
| D7S820 | 10 | 11 | 1,012 | 1,262 | ||
| CSF1PO | 10 | 11 | 12 | 1,115 | 365 | 889 |
| D3S1358 | 14 | 15 | 17 | 2,555 | 2,541 | 482 |
| TH01 | 6 | 8 | 9.3 | 438 | 2,023 | 2,594 |
| D13S317 | 11 | 4,385 | ||||
| D16S539 | 11 | 12 | 2,684 | 1,998 | ||
| D2S1338 | 19 | 23 | 1,552 | 1,926 | ||
| D19S433 | 13 | 14 | 15 | 523 | 2,185 | 1,479 |
| vWA | 17 | 18 | 2,597 | 1,778 | ||
| TPOX | 8 | 9 | 3,527 | 426 | ||
| D18S51 | 15 | 18 | 19 | 1,459 | 485 | 1,327 |
| AMEL | X | Y | 3,344 | 293 | ||
| D5S818 | 11 | 13 | 2,840 | 300 | ||
| FGA | 23 | 24 | 26 | 1,164 | 1,347 | 267 |
表6
模型计算结果"
| 参数 | 辩方估计 | 控方估计 | ||||
|---|---|---|---|---|---|---|
| 样本1 | 样本2 | 样本3 | 样本1 | 样本2 | 样本3 | |
| 供者1混合比例 | 0.58 | 0.50 | 0.81 | 0.21 | 0.30 | 0.81 |
| 供者2混合比例 | 0.14 | 0.38 | 0.19 | 0.57 | 0.60 | 0.19 |
| 供者3混合比例 | 0.14 | 0.11 | - | 0.11 | 0.10 | - |
| 供者4混合比例 | 0.14 | - | - | 0.11 | - | - |
| 期望峰高 | 2,859 | 2,644 | 1,894 | 2,859 | 2,644 | 1,894 |
| 峰高变化值 | 0.23 | 0.36 | 0.28 | 0.21 | 0.19 | 0.28 |
| 证据力度 | -567.91 | -467.85 | -327.91 | -551.90 | -443.76 | -290.45 |
表7
样本1控辩双方命题下的等位基因拆分结果"
| 位点 | 供者1 | 供者2 | 供者3 | 供者4 | ||||
|---|---|---|---|---|---|---|---|---|
| 辩方 | 控方 | 辩方 | 控方 | 辩方 | 控方 | 辩方 | 控方 | |
| D8S1179 | 12, 15 | 13, 13 | 12, 13 | 12, 15 | 13, 14 | 13, 14 | 13, 13 | 12, 13 |
| D21S11 | 30, 32.2 | 30, 30 | 29, 30 | 30, 32.2 | 30, 31.2 | 29, 31.2 | 29, 30 | 29, 30 |
| D7S820 | 11, 14 | 10, 11 | 10, 11 | 11, 14 | 8, 11 | 8, 11 | 10, 11 | 10, 11 |
| CSF1PO | 9, 13 | 10, 12 | 10, 12 | 9, 13 | 11, 12 | 11, 12 | 10, 12 | 11, 12 |
| D3S1358 | 15, 17 | 14, 15 | 14, 15 | 15, 17 | 14, 17 | 17, 18 | 15, 18 | 15, 17 |
| TH01 | 6, 9 | 8, 9.3 | 6, 9.3 | 6, 9 | 8, 9.3 | 6, 9.3 | 6, 9.3 | 6, 9.3 |
| D13S317 | 11, 12 | 11, 11 | 11, 12 | 12, 12 | 9, 12 | 9, 11 | 11, 12 | 11, 12 |
| D16S539 | 9, 12 | 11, 12 | 11, 12 | 9, 12 | 11, 13 | 11, 13 | 11, 12 | 11, 12 |
| D2S1338 | 19, 24 | 19, 23 | 19, 23 | 19, 24 | 22, 23 | 22, 23 | 23, 25 | 23, 25 |
| D19S433 | 13, 15 | 14, 15 | 13, 14 | 13, 15 | 14, 15 | 13, 14 | 13, 14 | 13, 14 |
| vWA | 14, 17 | 17, 18 | 16, 17 | 14, 17 | 17, 18 | 16, 19 | 17, 19 | 16, 17 |
| TPOX | 8, 11 | 8, 8 | 8, 11 | 8, 11 | 8, 11 | 8, 9 | 8, 9 | 8, 11 |
| D18S51 | 15, 23 | 15, 19 | 15, 16 | 15, 23 | 18, 19 | 16, 18 | 15, 22 | 18, 22 |
| D5S818 | 10, 13 | 11, 11 | 11, 12 | 10, 13 | 11, 11 | 11, 12 | 11, 12 | 11, 12 |
| FGA | 24, 25 | 23, 24 | 23, 24 | 24, 25 | 23, 24 | 20, 26 | 20, 26 | 23, 24 |
表8
样本2控辩双方命题下的等位基因拆分结果"
| 位点 | 供者1 | 供者2 | 供者3 | |||
|---|---|---|---|---|---|---|
| 辩方 | 控方 | 辩方 | 控方 | 辩方 | 控方 | |
| D8S1179 | 12, 15 | 13, 13 | 12, 13 | 12, 15 | 13, 13 | 12, 13 |
| D21S11 | 30, 32.2 | 30, 30 | 29, 30 | 30, 32.2 | 30, 30 | 29, 29 |
| D7S820 | 11, 14 | 10, 11 | 10, 11 | 11, 14 | 10, 11 | 10, 11 |
| CSF1PO | 9, 13 | 10, 12 | 10, 12 | 9, 13 | 11, 12 | 11, 11 |
| D3S1358 | 15, 17 | 14, 15 | 14, 15 | 15, 17 | 15, 17 | 15, 17 |
| TH01 | 6, 9 | 8, 9.3 | 8, 9.3 | 6, 9 | 6, 9.3 | 6, 9.3 |
| D13S317 | 11, 12 | 11, 11 | 11, 12 | 12, 12 | 11, 12 | 11, 12 |
| D16S539 | 9, 12 | 11, 12 | 11, 12 | 9, 12 | 11, 12 | 11, 12 |
| D2S1338 | 19, 24 | 19, 23 | 19, 23 | 19, 24 | 23, 24 | 23, 24 |
| D19S433 | 13, 15 | 14, 15 | 14, 15 | 13, 15 | 13, 14 | 13, 14 |
| vWA | 14, 17 | 17, 18 | 17, 18 | 14, 17 | 17, 17 | 17, 17 |
| TPOX | 8, 11 | 8, 8 | 8, 11 | 8, 11 | 8, 9 | 8, 9 |
| D18S51 | 15, 23 | 15, 19 | 15, 19 | 15, 23 | 15, 18 | 15, 18 |
| D5S818 | 10, 13 | 11, 11 | 11, 13 | 10, 13 | 11, 11 | 11, 13 |
| FGA | 24, 25 | 23, 24 | 23, 24 | 24, 25 | 24, 26 | 24, 26 |
表9
样本3控辩双方命题下的等位基因拆分结果"
| 位点 | 供者1 | 供者2 | ||
|---|---|---|---|---|
| 辩方 | 控方 | 辩方 | 控方 | |
| D8S1179 | 12, 15 | 13, 13 | 12, 13 | 12, 15 |
| D21S11 | 30, 32.2 | 30, 30 | 29, 30 | 30, 32.2 |
| D7S820 | 11, 14 | 10, 11 | 10, 11 | 11, 14 |
| CSF1PO | 9, 13 | 10, 12 | 10, 12 | 9, 13 |
| D3S1358 | 15, 17 | 14, 15 | 14, 15 | 15, 17 |
| TH01 | 6, 9 | 8, 9.3 | 6, 9.3 | 6, 9 |
| D13S317 | 11, 12 | 11, 11 | 11, 12 | 12, 12 |
| D16S539 | 9, 12 | 11, 12 | 11, 12 | 9, 12 |
| D2S1338 | 19, 24 | 19, 23 | 19, 23 | 19, 24 |
| D19S433 | 13, 15 | 14, 15 | 13, 14 | 13, 15 |
| vWA | 14, 17 | 17, 18 | 16, 17 | 14, 17 |
| TPOX | 8, 11 | 8, 8 | 8, 11 | 8, 11 |
| D18S51 | 15, 23 | 15, 19 | 15, 16 | 15, 23 |
| D5S818 | 10, 13 | 11, 11 | 11, 12 | 10, 13 |
| FGA | 24, 25 | 23, 24 | 23, 24 | 24, 25 |
表10
各个供者的实际分型"
| 等位基因 | M2(受害人) | 9947A | 9948 | 2800 |
|---|---|---|---|---|
| AMEL | X,Y | X | X,Y | X,Y |
| D8S1179 | 12, 15 | 13 | 12, 13 | 14, 15 |
| D21S11 | 30, 32.2 | 30 | 29, 30 | 29, 31.2 |
| D7S820 | 11, 14 | 10, 11 | 10,11 | 8, 11 |
| CSF1PO | 9, 13 | 10, 12 | 11 | 12 |
| D3S1358 | 15, 17 | 14, 15 | 15, 17 | 17, 18 |
| TH01 | 6, 9 | 8, 9.3 | 6, 9.3 | 6, 9.3 |
| D13S317 | 12 | 11 | 11 | 9, 11 |
| D16S539 | 9, 12 | 11, 12 | 11 | 9, 13 |
| D2S1338 | 19, 24 | 19, 23 | 23 | 22, 25 |
| D19S433 | 13, 15 | 14, 15 | 13, 14 | 13, 14 |
| vWA | 14, 17 | 17, 18 | 17 | 16, 19 |
| TPOX | 8, 11 | 8 | 8, 9 | 11 |
| D18S51 | 15, 23 | 15, 19 | 15, 18 | 16, 18 |
| D5S818 | 10, 13 | 11 | 11, 13 | 12 |
| FGA | 24, 25 | 23, 24 | 24, 26 | 20, 23 |
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