LoCIM-tool: An expert's assistant for inferring the major contributor's alleles in mixed consensus DNA profiles

被引：14

作者：

Benschop, Corina C. G. ^{[1
]}

Sijen, Titia ^{[1
]}

机构：

[1] Netherlands Forens Inst, Dept Human Biol Traces, NL-2490 AA The Hague, Netherlands

来源：

FORENSIC SCIENCE INTERNATIONAL-GENETICS | 2014年 / 11卷

关键词：

Forensic science; DNA mixture interpretation; Peak heights; Major contributor; Locus classification; LoCIM-tool; MIXTURE INTERPRETATION; FORENSIC CASEWORK; STR MIXTURES; PEAK AREAS; SAMPLES; RECOMMENDATIONS; COMMISSION; STUTTER; STAINS;

D O I：

10.1016/j.fsigen.2014.03.012

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

When dealing with mixed DNA profiles where contributors have donated DNA in unequal amounts, it is often useful to deduce the genotype of the major contributor. Inference of a major contributor's genotype empowers storage of the DNA profile in a DNA database (DDB), which is especially of interest in cases without a suspect. When a major contributor's genotype cannot be inferred straightforwardly, for instance because low level components are present, replicate analyses can be prepared and combined into a consensus profile [1]. Here we describe an automated and freely available tool to deduce the major component's alleles in mixed consensus DNA profiles. In these consensus profiles, theoretical peak heights (PHs) are assigned to the alleles using the sum of the PHs in the individual amplifications. The LoCIM-tool (Locus Classification & Inference of the Major-tool) uses these PHs plus parameters on the stochastic threshold, heterozygote balance (HB) and major to minor(s) ratio to classify every locus as a type 1, type 2 or type 3 locus, which represent classes of increasing complexity. Based on the type of locus, the LoCIM-tool applies an inclusion percentage to deduce the alleles for the major contributor. Using the LoCIM-tool, 99.9% of all type 1 loci and 96.7% of all type 2 loci were inferred correctly from a large set of consensus DNA profiles that were generated from mixtures varying for the mixture ratio, amount of DNA per contributor, number of contributors, quality of DNA, and allele sharing among the contributors. For type 3 loci, we aimed at inferring the major contributor's alleles and possibly extra alleles, which occurred for 87.2% of all type 3 loci analysed using the LoCIM-tool. When compared to the overall results of manual inference by a group of forensic scientists, the LoCIM-tool obtains a higher percentage of correctly inferred loci. From our results, we conclude that the LoCIM-tool presents an objective, uniform and fast method to reliably deduce alleles of a major component. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

引用

页码：154 / 165

页数：12

共 31 条

[11]

Evett IW, 1998, J FORENSIC SCI, V43, P62

[12] Characterisation of forward stutter in the AmpF/STR® SGM Plus® PCR [J].

Gibb, Andrew J. ;

Huell, Andrea-Louise ;

Simmons, Mark C. ;

Brown, Rosalind M. .

SCIENCE & JUSTICE, 2009, 49 (01) :24-31

[13] Interpreting simple STR mixtures using allele peak areas [J].

Gill, P ;

Sparkes, R ;

Pinchin, R ;

Clayton, T ;

Whitaker, J ;

Buckleton, J .

FORENSIC SCIENCE INTERNATIONAL, 1998, 91 (01) :41-53

[14] An investigation of the rigor of interpretation rules for STRs derived from less than 100 pg of DNA [J].

Gill, P ;

Whitaker, J ;

Flaxman, C ;

Brown, N ;

Buckleton, J .

FORENSIC SCIENCE INTERNATIONAL, 2000, 112 (01) :17-40

[15] DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures [J].

Gill, P. ;

Brenner, C. H. ;

Buckleton, J. S. ;

Carracedo, A. ;

Krawczak, M. ;

Mayr, W. R. ;

Morling, N. ;

Prinz, M. ;

Schneider, P. M. ;

Weir, B. S. .

FORENSIC SCIENCE INTERNATIONAL, 2006, 160 (2-3) :90-101

[16] National recommendations of the Technical UK DNA working group on mixture interpretation for the NDNAD and for court going purposes [J].

Gill, Peter ;

Brown, Rosalind M. ;

Fairley, Martin ;

Lee, Lara ;

Smyth, Maureen ;

Simpson, Neil ;

Irwin, Brian ;

Dunlop, Jim ;

Greenhalgh, Matt ;

Way, Kerry ;

Westacott, Emma J. ;

Ferguson, Steven Jon ;

Ford, Lisa Victoria ;

Clayton, Tim ;

Guiness, June .

FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2008, 2 (01) :76-82

[17] Concordance and population studies along with stutter and peak height ratio analysis for the PowerPlex® ESX 17 and ESI 17 Systems [J].

Hill, Carolyn R. ;

Duewer, David L. ;

Kline, Margaret C. ;

Sprecher, Cynthia J. ;

McLaren, Robert S. ;

Rabbach, Dawn R. ;

Krenke, Benjamin E. ;

Ensenberger, Martin G. ;

Fulmer, Patricia M. ;

Storts, Douglas R. ;

Butler, John M. .

FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2011, 5 (04) :269-275

[18] Modelling heterozygote balance in forensic DNA profiles [J].

Kelly, Hannah ;

Bright, Jo-Anne ;

Curran, James M. ;

Buckleton, John .

FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2012, 6 (06) :729-734

[19]

Leclair B, 2004, J FORENSIC SCI, V49, P968

[20] A practical model to explain results of comparative DNA testing in court [J].

Meulenbroek, A. J. ;

Sijen, T. ;

Benschop, C. C. G. ;

Kloosterman, A. D. .

FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES, 2011, 3 (01) :E325-E326

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