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目的 检测并分析母系突变的亲子鉴定案件,研究基因突变的意义和影响。方法 采用MicroreaderTM 21D ID System 试剂盒、MicroreaderTM 23SP ID System 试剂盒和 HuaxiaTM Platinum 扩增试剂盒对1例疑似存在遗传异常的家系进行常染色体 STR检测分析。结果 D2S441 基因座发生了母系突变,通过增加位点辅助检测,分别用二联体、三联体公式计算达到认定标准。结论 母系突变的发生概率较低,D2S441 基因座发生母系突变的检测研究提供数据材料。
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35(04): 444-445., articleTitle=亲子鉴定中PentaE突变 1例, refAbstract=null)], funds=[Fund(id=1154353681291010522, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, awardId=2023YL16, language=CN, fundingSource=粤高职公安司法与公共管理教指委2023年度教育教学改革项目(2023YL16), fundOrder=null, country=null)], companyList=[AuthorCompany(id=1154353676895379794, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, xref=1, ext=[AuthorCompanyExt(id=1154353676899574099, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, companyId=1154353676895379794, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=
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D2S441 基因座 Microreader ${}^{\mathrm{{TM}}}$ 21D ID System 试剂盒检测结果 注:由左至右依次为$\mathrm{C}1$. 孩子 1 ;$\mathrm{C}2$. 孩子 2 ; AF. 被检父;M. 生母
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D2S441 基因座 Huaxia™ Platinum 扩增试剂盒检测结果, figureFileSmall=zB7MABn5STJxMXtxhqSToQ==, figureFileBig=WzHlRmJkD7r6lbkDQ79Zcw==, tableContent=null), ArticleFig(id=1154353680473121218, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, language=EN, label=null, caption=null, figureFileSmall=null, figureFileBig=null, tableContent=
| STR 基因座 | AF | C1 | M | PI(AF/C1) | PI(M/C1) | PI(trio) |
| D19S433 | 14.2,15.2 | 14.2,15 | 13.2,15 | 2.2046 | 3.8880 | 4.4092 |
| D5S818 | 10,11 | 9,10 | 9,11 | 1.3990 | 3.2300 | 2.7980 |
| D21S11 | 29,30 | 29,32.2 | 32,32.2 | 0.9137 | 2.2046 | 1.8275 |
| D18S51 | 14,16 | 14,15 | 14,15 | 1.2255 | 2.7270 | 1.3495 |
| D6S1043 | 13,19 | 14,19 | 11,14 | 1.7007 | 1.7960 | 3.4014 |
| D3S1358 | 17 | 17,18 | 17,18 | 2.5291 | 4.6659 | 3.6873 |
| D13S317 | 8 | 8 | 8,12 | 3.7693 | 1.8847 | 3.7693 |
| D7S820 | 10,11 | 11 | 8,11 | 1.4819 | 1.4819 | 1.4819 |
| D16S539 | 11,12 | 11,13 | 10,13 | 1.0309 | 2.4462 | 2.0619 |
| CSF1PO | 10,12 | 10,11 | 10,11 | 1.0697 | 2.0885 | 1.0436 |
| Penta D | 9,12 | 12 | 12,14 | 3.1037 | 3.1037 | 3.1037 |
| D2S441* | 11,12 | 11 | 10 | 1.5253 | 0.0031 | 1.5253 |
| vWA | 14,20 | 17,20 | 17 | 32.0513 | 2.0661 | 64.1026 |
| D8S1179 | 12,13 | 13,15 | 10,15 | 1.1832 | 1.3550 | 2.3663 |
| TPOX | 8,11 | 8,11 | 8,11 | 1.3233 | 1.3233 | 1.2284 |
| Penta E | 11,20 | 11,17 | 11,17 | 2.2831 | 5.0889 | 2.5176 |
| TH01 | 9 | 9 | 9 | 1.8965 | 1.8965 | 1.8965 |
| D12S391 | 17,18 | 17,18 | 17,19 | 3.4851 | 2.4108 | 2.1487 |
| D2S1338 | 16,18 | 18,19 | 18,19 | 1.9984 | 3.5265 | 1.7319 |
| FGA | 25,26 | 22,25 | 18,22 | 2.3878 | 1.3843 | 4.7755 |
| AMEL | X, Y | X | $X$ | - | - | - |
), ArticleFig(id=1154353680540230084, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, language=CN, label=表 1, caption=
采用 Microreader ${}^{\mathrm{{TM}}}$ 21D ID System 试剂盒检测常染色体 STR 基因座分型结果, figureFileSmall=null, figureFileBig=null, tableContent=
| STR 基因座 | AF | C1 | M | PI(AF/C1) | PI(M/C1) | PI(trio) |
| D19S433 | 14.2,15.2 | 14.2,15 | 13.2,15 | 2.2046 | 3.8880 | 4.4092 |
| D5S818 | 10,11 | 9,10 | 9,11 | 1.3990 | 3.2300 | 2.7980 |
| D21S11 | 29,30 | 29,32.2 | 32,32.2 | 0.9137 | 2.2046 | 1.8275 |
| D18S51 | 14,16 | 14,15 | 14,15 | 1.2255 | 2.7270 | 1.3495 |
| D6S1043 | 13,19 | 14,19 | 11,14 | 1.7007 | 1.7960 | 3.4014 |
| D3S1358 | 17 | 17,18 | 17,18 | 2.5291 | 4.6659 | 3.6873 |
| D13S317 | 8 | 8 | 8,12 | 3.7693 | 1.8847 | 3.7693 |
| D7S820 | 10,11 | 11 | 8,11 | 1.4819 | 1.4819 | 1.4819 |
| D16S539 | 11,12 | 11,13 | 10,13 | 1.0309 | 2.4462 | 2.0619 |
| CSF1PO | 10,12 | 10,11 | 10,11 | 1.0697 | 2.0885 | 1.0436 |
| Penta D | 9,12 | 12 | 12,14 | 3.1037 | 3.1037 | 3.1037 |
| D2S441* | 11,12 | 11 | 10 | 1.5253 | 0.0031 | 1.5253 |
| vWA | 14,20 | 17,20 | 17 | 32.0513 | 2.0661 | 64.1026 |
| D8S1179 | 12,13 | 13,15 | 10,15 | 1.1832 | 1.3550 | 2.3663 |
| TPOX | 8,11 | 8,11 | 8,11 | 1.3233 | 1.3233 | 1.2284 |
| Penta E | 11,20 | 11,17 | 11,17 | 2.2831 | 5.0889 | 2.5176 |
| TH01 | 9 | 9 | 9 | 1.8965 | 1.8965 | 1.8965 |
| D12S391 | 17,18 | 17,18 | 17,19 | 3.4851 | 2.4108 | 2.1487 |
| D2S1338 | 16,18 | 18,19 | 18,19 | 1.9984 | 3.5265 | 1.7319 |
| FGA | 25,26 | 22,25 | 18,22 | 2.3878 | 1.3843 | 4.7755 |
| AMEL | X, Y | X | $X$ | - | - | - |
), ArticleFig(id=1154353680611533254, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, language=EN, label=null, caption=null, figureFileSmall=null, figureFileBig=null, tableContent=
| STR 基因座 | AF | C2 | M | PI(AF/C2) | P(M/C2) | PI(trio) |
| D19S433 | 14.2,15.2 | 13.2,14.2 | 13.2,15 | 2.2046 | 5.7737 | 4.4092 |
| D5S818 | 10,11 | 11 | 9,11 | 1.5038 | 1.5038 | 1.5038 |
| D21S11 | 29,30 | 30,32 | 32,32.2 | 0.8600 | 10.9170 | 1.7200 |
| D18S51 | 14,16 | 15,16 | 14,15 | 2.0542 | 1.5015 | 4.1085 |
| D6S1043 | 13,19 | 14,19 | 11,14 | 1.7007 | 1.7960 | 3.4014 |
| D3S1358 | 17 | 17 | 17,18 | 5.0582 | 2.5291 | 5.0582 |
| D13S317 | 8 | 8 | 8,12 | 3.7693 | 1.8847 | 3.7693 |
| D7S820 | 10,11 | 11 | 8,11 | 1.4819 | 1.4819 | 1.4819 |
| D16S539 | 11,12 | 12,13 | 10,13 | 1.1489 | 2.4462 | 2.2978 |
| CSF1PO | 10,12 | 11,12 | 10,11 | 0.6550 | 1.0187 | 1.3099 |
| Penta D | 9,12 | 9,12 | 12,14 | 2.3643 | 1.5518 | 1.6250 |
| D2S441* | 11,12 | 12 | 10 | 2.6137 | 0.0005 | 2.6137 |
| vWA | 14,20 | 17,20 | 17 | 32.0513 | 2.0661 | 64.1026 |
| D8S1179 | 12,13 | 10,13 | 10,15 | 1.1832 | 2.5432 | 2.3663 |
| TPOX | 8,11 | 11 | 8,11 | 1.6779 | 1.6779 | 1.6779 |
| Penta E | 11,20 | 11 | 11,17 | 4.5662 | 4.5662 | 4.5662 |
| TH01 | 9 | 9 | 9 | 1.8965 | 1.8965 | 1.8965 |
| D12S391 | 17,18 | 17 | 17,19 | 4.8216 | 4.8216 | 4.8216 |
| D2S1338 | 16,18 | 18 | 18,19 | 3.9968 | 3.9968 | 3.9968 |
| FGA | 25,26 | 22,25 | 18,22 | 2.3878 | 1.3843 | 4.7755 |
| AMEL | X, Y | X, Y | X | - | - | - |
), ArticleFig(id=1154353680682836424, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, language=CN, label=表 2, caption=
采用 Microreader ${}^{\mathrm{{TM}}}$ 21D ID System 试剂盒检测常染色体 STR 基因结果, figureFileSmall=null, figureFileBig=null, tableContent=
| STR 基因座 | AF | C2 | M | PI(AF/C2) | P(M/C2) | PI(trio) |
| D19S433 | 14.2,15.2 | 13.2,14.2 | 13.2,15 | 2.2046 | 5.7737 | 4.4092 |
| D5S818 | 10,11 | 11 | 9,11 | 1.5038 | 1.5038 | 1.5038 |
| D21S11 | 29,30 | 30,32 | 32,32.2 | 0.8600 | 10.9170 | 1.7200 |
| D18S51 | 14,16 | 15,16 | 14,15 | 2.0542 | 1.5015 | 4.1085 |
| D6S1043 | 13,19 | 14,19 | 11,14 | 1.7007 | 1.7960 | 3.4014 |
| D3S1358 | 17 | 17 | 17,18 | 5.0582 | 2.5291 | 5.0582 |
| D13S317 | 8 | 8 | 8,12 | 3.7693 | 1.8847 | 3.7693 |
| D7S820 | 10,11 | 11 | 8,11 | 1.4819 | 1.4819 | 1.4819 |
| D16S539 | 11,12 | 12,13 | 10,13 | 1.1489 | 2.4462 | 2.2978 |
| CSF1PO | 10,12 | 11,12 | 10,11 | 0.6550 | 1.0187 | 1.3099 |
| Penta D | 9,12 | 9,12 | 12,14 | 2.3643 | 1.5518 | 1.6250 |
| D2S441* | 11,12 | 12 | 10 | 2.6137 | 0.0005 | 2.6137 |
| vWA | 14,20 | 17,20 | 17 | 32.0513 | 2.0661 | 64.1026 |
| D8S1179 | 12,13 | 10,13 | 10,15 | 1.1832 | 2.5432 | 2.3663 |
| TPOX | 8,11 | 11 | 8,11 | 1.6779 | 1.6779 | 1.6779 |
| Penta E | 11,20 | 11 | 11,17 | 4.5662 | 4.5662 | 4.5662 |
| TH01 | 9 | 9 | 9 | 1.8965 | 1.8965 | 1.8965 |
| D12S391 | 17,18 | 17 | 17,19 | 4.8216 | 4.8216 | 4.8216 |
| D2S1338 | 16,18 | 18 | 18,19 | 3.9968 | 3.9968 | 3.9968 |
| FGA | 25,26 | 22,25 | 18,22 | 2.3878 | 1.3843 | 4.7755 |
| AMEL | X, Y | X, Y | X | - | - | - |
), ArticleFig(id=1154353680762528202, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, language=EN, label=null, caption=null, figureFileSmall=null, figureFileBig=null, tableContent=
| STR 基因座 | AF | C1 | M | PI(AF/C1) | P(M/C1) | PI(trio) |
| D6S477 | 12,14 | 12,15 | 13,15 | 4.2808 | 0.8660 | 8.5616 |
| D18S535 | 9,13 | 9,14 | 14,15 | 1.3550 | 0.8732 | 2.7100 |
| D19S253 | 7,13 | 7,13 | 7,13 | 2.7195 | 2.7195 | 2.6918 |
| D15S659 | 12 | 12,13 | 12,13 | 2.1617 | 2.9762 | 2.7533 |
| D11S2368 | 21,22 | 21,22 | 18,22 | 3.7138 | 2.5800 | 2.2676 |
| D20S470 | 10,12 | 12,16 | 11,16 | 5.7737 | 1.3881 | 11.5473 |
| D1S1656 | 14,15 | 15,17.3 | 17,17.3 | 0.8544 | 3.8880 | 1.7088 |
| D22- GATA198B05 | 20,21 | 20,21 | 21,22 | 3.5890 | 0.8418 | 5.4945 |
| D16S539 | 11,12 | 11,13 | 10,13 | 1.0309 | 2.4462 | 2.0619 |
| D7S3048 | 18,24 | 21,24 | 21 | 1.5235 | 4.5249 | 3.0469 |
| D8S1132 | 18,22 | 19,22 | 19,20 | 2.1133 | 1.3340 | 4.2265 |
| D4S2366 | 9,11 | 9 | 9,11 | 1.6978 | 1.6978 | 1.6978 |
| D21S1270 | 10,12 | 10,12 | 10,14 | 6.8398 | 0.8732 | 11.9332 |
| D13S325 | 21,22 | 19,22 | 19,22 | 1.8671 | 2.9170 | 1.3441 |
| D9S925 | 14,17 | 16,17 | 16 | 1.1018 | 1.7088 | 2.2036 |
| D3S3045 | 13,14 | 9,13 | 9,14 | 1.2346 | 0.7474 | 2.4691 |
| D14S608 | 10,11 | 7,10 | 7,10 | 1.0903 | 2.2365 | 1.1176 |
| D10S1435 | 13,14 | 13 | 10,13 | 2.0056 | 2.0056 | 2.0056 |
| D12S391 | 17,18 | 17,18 | 17,19 | 3.4851 | 2.4108 | 2.1487 |
| D2S1338 | 16,18 | 18,19 | 18,19 | 1.9984 | 3.5265 | 1.7319 |
| D17S1290 | 10,17 | 10,11 | 11,17 | 6.7568 | 5.1867 | 13.5135 |
| D5S2500 | 11,14 | 14 | 14,15 | 6.7114 | 6.7114 | 6.7114 |
| AMEL | X, Y | $X$ | X | - | - | - |
), ArticleFig(id=1154353680896745934, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, language=CN, label=表 3, caption=
采用 Microreader ${}^{\mathrm{{TM}}}$ 23SP ID System 试剂盒检测常染色体 STR 基因结果, figureFileSmall=null, figureFileBig=null, tableContent=
| STR 基因座 | AF | C1 | M | PI(AF/C1) | P(M/C1) | PI(trio) |
| D6S477 | 12,14 | 12,15 | 13,15 | 4.2808 | 0.8660 | 8.5616 |
| D18S535 | 9,13 | 9,14 | 14,15 | 1.3550 | 0.8732 | 2.7100 |
| D19S253 | 7,13 | 7,13 | 7,13 | 2.7195 | 2.7195 | 2.6918 |
| D15S659 | 12 | 12,13 | 12,13 | 2.1617 | 2.9762 | 2.7533 |
| D11S2368 | 21,22 | 21,22 | 18,22 | 3.7138 | 2.5800 | 2.2676 |
| D20S470 | 10,12 | 12,16 | 11,16 | 5.7737 | 1.3881 | 11.5473 |
| D1S1656 | 14,15 | 15,17.3 | 17,17.3 | 0.8544 | 3.8880 | 1.7088 |
| D22- GATA198B05 | 20,21 | 20,21 | 21,22 | 3.5890 | 0.8418 | 5.4945 |
| D16S539 | 11,12 | 11,13 | 10,13 | 1.0309 | 2.4462 | 2.0619 |
| D7S3048 | 18,24 | 21,24 | 21 | 1.5235 | 4.5249 | 3.0469 |
| D8S1132 | 18,22 | 19,22 | 19,20 | 2.1133 | 1.3340 | 4.2265 |
| D4S2366 | 9,11 | 9 | 9,11 | 1.6978 | 1.6978 | 1.6978 |
| D21S1270 | 10,12 | 10,12 | 10,14 | 6.8398 | 0.8732 | 11.9332 |
| D13S325 | 21,22 | 19,22 | 19,22 | 1.8671 | 2.9170 | 1.3441 |
| D9S925 | 14,17 | 16,17 | 16 | 1.1018 | 1.7088 | 2.2036 |
| D3S3045 | 13,14 | 9,13 | 9,14 | 1.2346 | 0.7474 | 2.4691 |
| D14S608 | 10,11 | 7,10 | 7,10 | 1.0903 | 2.2365 | 1.1176 |
| D10S1435 | 13,14 | 13 | 10,13 | 2.0056 | 2.0056 | 2.0056 |
| D12S391 | 17,18 | 17,18 | 17,19 | 3.4851 | 2.4108 | 2.1487 |
| D2S1338 | 16,18 | 18,19 | 18,19 | 1.9984 | 3.5265 | 1.7319 |
| D17S1290 | 10,17 | 10,11 | 11,17 | 6.7568 | 5.1867 | 13.5135 |
| D5S2500 | 11,14 | 14 | 14,15 | 6.7114 | 6.7114 | 6.7114 |
| AMEL | X, Y | $X$ | X | - | - | - |
), ArticleFig(id=1154353680989020626, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, language=EN, label=null, caption=null, figureFileSmall=null, figureFileBig=null, tableContent=
| STR 基因座 | AF | C1 | C2 | M |
| D3S1358 | 17 | 17,18 | 17 | 17,18 |
| vWA | 14,20 | 17,20 | 17,20 | 17 |
| D16S539 | 11,12 | 11,13 | 12,13 | 10,13 |
| CSF1PO | 10,12 | 10,11 | 11,12 | 10,11 |
| TPOX | 8,11 | 8,11 | 11 | 8,11 |
| D8S1179 | 12,13 | 13,15 | 10,13 | 10,15 |
| D21S11 | 29,30 | 29,32.2 | 30,32 | 32,32.2 |
| D18S51 | 14,16 | 14,15 | 15,16 | 14,15 |
| Penta E | 11,20 | 11,17 | 11 | 11,17 |
| D2S441* | 11,12 | 11 | 12 | 10 |
| D19S433 | 14.2,15.2 | 14.2,15 | 13.2,14.2 | 13.2,15 |
| TH01 | 9 | 9 | 9 | 9 |
| FGA | 25,26 | 22,25 | 22,25 | 18,22 |
| D22S1045 | 15,17 | 11,15 | 15,17 | 11,17 |
| D5S818 | 10,11 | 9,10 | 11 | 9,11 |
| D13S317 | 8 | 8 | 8 | 8,12 |
| D7S820 | 10,11 | 11 | 11 | 8,11 |
| D6S1043 | 13,19 | 14,19 | 14,19 | 11,14 |
| D10S1248 | 14,17 | 15,17 | 13,14 | 13,15 |
| D1S1656 | 14,15 | 15,17.3 | 14,17 | 17,17.3 |
| D12S391 | 17,18 | 17,18 | 17 | 17,19 |
| D2S1338 | 16,18 | 18,19 | 18 | 18,19 |
| Penta D | 9,12 | 12 | 9,12 | 12,14 |
| Y-indel | 2 | - | 2 | - |
| Amelogenin | X, Y | X | X, Y | $X$ |
), ArticleFig(id=1154353681102266837, tenantId=1146029695717560320, journalId=1146119944283992078, articleId=1152996352742117600, language=CN, label=表 4, caption=
采用 Huaxia™ Platinum 扩增试剂盒检测常染色体 STR 基因结果, figureFileSmall=null, figureFileBig=null, tableContent=
| STR 基因座 | AF | C1 | C2 | M |
| D3S1358 | 17 | 17,18 | 17 | 17,18 |
| vWA | 14,20 | 17,20 | 17,20 | 17 |
| D16S539 | 11,12 | 11,13 | 12,13 | 10,13 |
| CSF1PO | 10,12 | 10,11 | 11,12 | 10,11 |
| TPOX | 8,11 | 8,11 | 11 | 8,11 |
| D8S1179 | 12,13 | 13,15 | 10,13 | 10,15 |
| D21S11 | 29,30 | 29,32.2 | 30,32 | 32,32.2 |
| D18S51 | 14,16 | 14,15 | 15,16 | 14,15 |
| Penta E | 11,20 | 11,17 | 11 | 11,17 |
| D2S441* | 11,12 | 11 | 12 | 10 |
| D19S433 | 14.2,15.2 | 14.2,15 | 13.2,14.2 | 13.2,15 |
| TH01 | 9 | 9 | 9 | 9 |
| FGA | 25,26 | 22,25 | 22,25 | 18,22 |
| D22S1045 | 15,17 | 11,15 | 15,17 | 11,17 |
| D5S818 | 10,11 | 9,10 | 11 | 9,11 |
| D13S317 | 8 | 8 | 8 | 8,12 |
| D7S820 | 10,11 | 11 | 11 | 8,11 |
| D6S1043 | 13,19 | 14,19 | 14,19 | 11,14 |
| D10S1248 | 14,17 | 15,17 | 13,14 | 13,15 |
| D1S1656 | 14,15 | 15,17.3 | 14,17 | 17,17.3 |
| D12S391 | 17,18 | 17,18 | 17 | 17,19 |
| D2S1338 | 16,18 | 18,19 | 18 | 18,19 |
| Penta D | 9,12 | 12 | 9,12 | 12,14 |
| Y-indel | 2 | - | 2 | - |
| Amelogenin | X, Y | X | X, Y | $X$ |
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