Eduardo Rojas-Prado, Irán Cortés-Trujillo, Mayra E. García-Aceves, Mariana Chávez-Arreguín, Karina González-Becerra, Alma F. Favela-Mendoza, Héctor Rangel-Villalobos
{"title":"使用 Investigator Argus X-12 套件和突变结果的标准亲子鉴定案例中的后验信息量","authors":"Eduardo Rojas-Prado, Irán Cortés-Trujillo, Mayra E. García-Aceves, Mariana Chávez-Arreguín, Karina González-Becerra, Alma F. Favela-Mendoza, Héctor Rangel-Villalobos","doi":"10.1016/j.reml.2024.11.001","DOIUrl":null,"url":null,"abstract":"<div><h3>Introduction</h3><div>The Investigator Argus X-12 kit is a valuable complementary tool for human identification purposes, especially for solving complex kinship cases. The analysis of these cases generates valuable information in routine forensic work, such as <em>a posteriori</em> informativeness (LR: likelihood ratio) and mutation rates.</div></div><div><h3>Objetive</h3><div>To analyze the LR offered by the Argus X-12 QS kit in 74 Mexican families, including the father, mother, and daughter(s), respectively.</div></div><div><h3>Methods</h3><div>Exact LRs were estimated with the FamlinkX software in the families as paternity trio cases (<em>n</em> <!-->= 74; average 8.E<!--> <!-->+<!--> <!-->14) and duo cases (<em>n</em> <!-->= 148; average 6.1E<!--> <!-->+<!--> <!-->11), omitting the mother and father, respectively.</div></div><div><h3>Results</h3><div>The LR of the trios (<em>a posteriori</em>) was significantly higher than the <em>(</em><em>a priori)</em> parameter IP typical (3.98E<!--> <!-->+<!--> <!-->04). As reference, we report the LR of complex kinship cases solved with X-STRs: maternal half-sisters (LR<!--> <!-->= 111), paternal half-sisters (LR<!--> <!-->= 5567), paternal half-sisters with their mothers (LR<!--> <!-->= 6.0E<!--> <!-->+<!--> <!-->07, and paternal grandmother-granddaughter (LR<!--> <!-->= 15,864). Nine mutations were detected in 161 meiosis. The mutation rate was estimated in seven X-STRs, which was 0,0062 (1/161) for DXS10148, DXS10135, DXS8378, DXS10146, and DXS7423, and 0,0124 (2/161) for DXS10074 and DXS10101. These findings will be useful in future meta-analyses to achieve more conclusive estimates. A null allele in DXS10148 was inferred between a mother and daughter, supported by the low probability that the finding is explained by an 8-step mutation (26.1<!--> <!-->→<!--> <!-->18), and the low frequency of the 26.1 homozygote.</div></div><div><h3>Conclusion</h3><div>The <em>a posteriori</em> informativeness of Argus X-12 in paternity and kinship cases described herein, justify the inclusion of the X-STRs in forensic genetics labs.</div></div>","PeriodicalId":35705,"journal":{"name":"Revista Espanola de Medicina Legal","volume":"51 1","pages":"Article 100426"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Informatividad a posteriori en casos de paternidad estándar con el kit Investigator Argus X-12 y hallazgos mutacionales\",\"authors\":\"Eduardo Rojas-Prado, Irán Cortés-Trujillo, Mayra E. García-Aceves, Mariana Chávez-Arreguín, Karina González-Becerra, Alma F. Favela-Mendoza, Héctor Rangel-Villalobos\",\"doi\":\"10.1016/j.reml.2024.11.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Introduction</h3><div>The Investigator Argus X-12 kit is a valuable complementary tool for human identification purposes, especially for solving complex kinship cases. The analysis of these cases generates valuable information in routine forensic work, such as <em>a posteriori</em> informativeness (LR: likelihood ratio) and mutation rates.</div></div><div><h3>Objetive</h3><div>To analyze the LR offered by the Argus X-12 QS kit in 74 Mexican families, including the father, mother, and daughter(s), respectively.</div></div><div><h3>Methods</h3><div>Exact LRs were estimated with the FamlinkX software in the families as paternity trio cases (<em>n</em> <!-->= 74; average 8.E<!--> <!-->+<!--> <!-->14) and duo cases (<em>n</em> <!-->= 148; average 6.1E<!--> <!-->+<!--> <!-->11), omitting the mother and father, respectively.</div></div><div><h3>Results</h3><div>The LR of the trios (<em>a posteriori</em>) was significantly higher than the <em>(</em><em>a priori)</em> parameter IP typical (3.98E<!--> <!-->+<!--> <!-->04). As reference, we report the LR of complex kinship cases solved with X-STRs: maternal half-sisters (LR<!--> <!-->= 111), paternal half-sisters (LR<!--> <!-->= 5567), paternal half-sisters with their mothers (LR<!--> <!-->= 6.0E<!--> <!-->+<!--> <!-->07, and paternal grandmother-granddaughter (LR<!--> <!-->= 15,864). Nine mutations were detected in 161 meiosis. The mutation rate was estimated in seven X-STRs, which was 0,0062 (1/161) for DXS10148, DXS10135, DXS8378, DXS10146, and DXS7423, and 0,0124 (2/161) for DXS10074 and DXS10101. These findings will be useful in future meta-analyses to achieve more conclusive estimates. A null allele in DXS10148 was inferred between a mother and daughter, supported by the low probability that the finding is explained by an 8-step mutation (26.1<!--> <!-->→<!--> <!-->18), and the low frequency of the 26.1 homozygote.</div></div><div><h3>Conclusion</h3><div>The <em>a posteriori</em> informativeness of Argus X-12 in paternity and kinship cases described herein, justify the inclusion of the X-STRs in forensic genetics labs.</div></div>\",\"PeriodicalId\":35705,\"journal\":{\"name\":\"Revista Espanola de Medicina Legal\",\"volume\":\"51 1\",\"pages\":\"Article 100426\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revista Espanola de Medicina Legal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0377473224000452\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Espanola de Medicina Legal","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0377473224000452","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Informatividad a posteriori en casos de paternidad estándar con el kit Investigator Argus X-12 y hallazgos mutacionales
Introduction
The Investigator Argus X-12 kit is a valuable complementary tool for human identification purposes, especially for solving complex kinship cases. The analysis of these cases generates valuable information in routine forensic work, such as a posteriori informativeness (LR: likelihood ratio) and mutation rates.
Objetive
To analyze the LR offered by the Argus X-12 QS kit in 74 Mexican families, including the father, mother, and daughter(s), respectively.
Methods
Exact LRs were estimated with the FamlinkX software in the families as paternity trio cases (n = 74; average 8.E + 14) and duo cases (n = 148; average 6.1E + 11), omitting the mother and father, respectively.
Results
The LR of the trios (a posteriori) was significantly higher than the (a priori) parameter IP typical (3.98E + 04). As reference, we report the LR of complex kinship cases solved with X-STRs: maternal half-sisters (LR = 111), paternal half-sisters (LR = 5567), paternal half-sisters with their mothers (LR = 6.0E + 07, and paternal grandmother-granddaughter (LR = 15,864). Nine mutations were detected in 161 meiosis. The mutation rate was estimated in seven X-STRs, which was 0,0062 (1/161) for DXS10148, DXS10135, DXS8378, DXS10146, and DXS7423, and 0,0124 (2/161) for DXS10074 and DXS10101. These findings will be useful in future meta-analyses to achieve more conclusive estimates. A null allele in DXS10148 was inferred between a mother and daughter, supported by the low probability that the finding is explained by an 8-step mutation (26.1 → 18), and the low frequency of the 26.1 homozygote.
Conclusion
The a posteriori informativeness of Argus X-12 in paternity and kinship cases described herein, justify the inclusion of the X-STRs in forensic genetics labs.