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三人同胞模型中同胞关系判定的一种新策略。

A novel strategy for sibship determination in trio sibling model.

作者信息

Lee James Chun-I, Lin Yen-Yang, Tsai Li-Chin, Lin Chun-Yen, Huang Tsun-Ying, Chu Pao-Ching, Yu Yu-Jen, Linacre Adrian, Hsieh Hsing-Mei

机构信息

Department of Forensic Science, Central Police University, 56 Shu-Jen Road, Kwei-San, Taoyuan 33304, Taiwan ROC.

出版信息

Croat Med J. 2012 Aug;53(4):336-42. doi: 10.3325/cmj.2012.53.336.

DOI:10.3325/cmj.2012.53.336
PMID:22911526
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3429943/
Abstract

AIM

To use a virtually simulated population, generated from published allele frequencies based on 15 short tandem repeats (STR), to evaluate the efficacy of trio sibship testing and sibling assignment for forensic purposes.

METHODS

Virtual populations were generated using 15 STR loci to create a large number of related and unrelated genotypes (10,000 trio combinations). Using these virtual populations, the probability of related and unrelated profiles can be compared to determine the chance of inclusions of being siblings if they are true siblings and the chance of inclusion if they are unrelated. Two specific relationships were tested - two reference siblings were compared to a third true sibling (3S trio, sibling trio) and two reference siblings were compared to an unrelated individual (2S1U trio, non-sibling trio).

RESULTS

When the likelihood ratio was greater than 1, 99.87% of siblings in the 3S trio population were considered as siblings (sensitivity); 99.88% of non-siblings in the 2S1U trio population were considered as non-siblings (specificity); 99.9% of both populations were identified correctly as siblings and non-siblings; and the accuracy of the test was 99.88%.

CONCLUSIONS

The high sensitivity and specificity figures when using two known siblings compared to a putative sibling are significantly greater than when using only one known relative. The data also support the use of increasing number of loci allowing for greater confidence in genetic identification. The system established in this study could be used as the model for evaluating and simulating the cases with multiple relatives.

摘要

目的

利用基于15个短串联重复序列(STR)的已发表等位基因频率生成的虚拟模拟人群,评估三联体亲缘关系检测和同胞认定在法医鉴定中的有效性。

方法

使用15个STR基因座生成虚拟人群,以创建大量相关和不相关的基因型(10,000个三联体组合)。利用这些虚拟人群,可以比较相关和不相关图谱的概率,以确定如果他们是真正的兄弟姐妹被认定为兄弟姐妹的可能性,以及如果他们不相关被认定为相关的可能性。测试了两种特定关系——将两个参考兄弟姐妹与第三个真正的兄弟姐妹进行比较(3S三联体,同胞三联体),以及将两个参考兄弟姐妹与一个不相关个体进行比较(2S1U三联体,非同胞三联体)。

结果

当似然比大于1时,3S三联体人群中99.87%的兄弟姐妹被认定为兄弟姐妹(敏感性);2S1U三联体人群中99.88%的非兄弟姐妹被认定为非兄弟姐妹(特异性);两个群体中99.9%被正确认定为兄弟姐妹和非兄弟姐妹;测试的准确性为99.88%。

结论

与仅使用一个已知亲属相比,使用两个已知兄弟姐妹与一个假定兄弟姐妹进行比较时,具有更高的敏感性和特异性。数据还支持使用更多的基因座,从而在基因识别中获得更高的可信度。本研究建立的系统可作为评估和模拟有多个亲属案件的模型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a8d/3429943/b4b826e8e990/CroatMedJ_53_0336-F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a8d/3429943/5aeb4f7ae2ad/CroatMedJ_53_0336-F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a8d/3429943/b4b826e8e990/CroatMedJ_53_0336-F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a8d/3429943/5aeb4f7ae2ad/CroatMedJ_53_0336-F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a8d/3429943/b4b826e8e990/CroatMedJ_53_0336-F2.jpg

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本文引用的文献

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[Establishment of universal algorithms for commonly used kinship indices between two individuals].[建立两个个体间常用亲属关系指数的通用算法]
Fa Yi Xue Za Zhi. 2011 Oct;27(5):330-3.
2
Choosing relatives for DNA identification of missing persons.选择亲属进行失踪人员的DNA鉴定。
J Forensic Sci. 2011 Jan;56 Suppl 1:S23-8. doi: 10.1111/j.1556-4029.2010.01631.x. Epub 2010 Dec 13.
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DNA identification by pedigree likelihood ratio accommodating population substructure and mutations.通过考虑群体亚结构和突变的系谱似然比进行DNA鉴定。
Investig Genet. 2010 Oct 4;1(1):8. doi: 10.1186/2041-2223-1-8.
4
The strategies to DVI challenges in Typhoon Morakot.莫拉克台风中 DVI 挑战的应对策略。
Int J Legal Med. 2011 Sep;125(5):637-41. doi: 10.1007/s00414-010-0479-8. Epub 2010 Jun 16.
5
Increasing the confidence in half-sibship determination based upon 15 STR loci.基于15个短串联重复序列(STR)位点提高半同胞关系判定的可信度。
J Forensic Leg Med. 2008 Aug;15(6):373-7. doi: 10.1016/j.jflm.2008.02.004. Epub 2008 Apr 11.
6
Systematic evaluation of sensitivity and specificity of sibship determination by using 15 STR loci.运用15个短串联重复序列(STR)基因座对同胞关系判定的敏感性和特异性进行系统评估。
J Forensic Leg Med. 2008 Jul;15(5):329-34. doi: 10.1016/j.jflm.2007.12.018. Epub 2008 Apr 11.
7
A grey zone approach for evaluation of 15 short tandem repeat loci in sibship analysis: a pilot study in Indian subjects.一种用于同胞关系分析中评估15个短串联重复序列位点的灰色地带方法:印度受试者的一项初步研究
J Forensic Leg Med. 2007 Jul;14(5):261-5. doi: 10.1016/j.jcfm.2006.08.002. Epub 2006 Oct 18.
8
Specificity of sibship determination using the ABI Identifiler multiplex system.使用ABI Identifiler复合扩增系统进行同胞关系鉴定的特异性
J Forensic Sci. 2004 Nov;49(6):1262-4.
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Determination of the sensitivity and specificity of sibship calculations using AmpF lSTR Profiler Plus.使用AmpF lSTR Profiler Plus进行亲缘关系计算的灵敏度和特异性测定。
Int J Legal Med. 2002 Jun;116(3):161-4. doi: 10.1007/s00414-001-0273-8.
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Determination of sibship in any two persons.确定任意两人之间的亲缘关系。
Transfusion. 1996 Mar;36(3):259-62. doi: 10.1046/j.1537-2995.1996.36396182146.x.