Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA:: Focus on the mtDNA profile of a mixed semen-saliva stain

被引：19

作者：

Crespillo, Manuel ^{[1
]}

Paredes, Miguel R.

Prieto, Lourdes

Montesino, Marta

Salas, Antonio

Albarran, Cristina

Alvarez-Iglesias, V

Amorin, Antonio

Berniell-Lee, Gemma

Brehm, Antonio

Carril, Juan C.

Corach, Daniel

Cuevas, Nerea

Di Lonardo, Ana M.

Doutremepuich, Christian

Espinheira, Rosa M.

Espinoza, Marta

Gomez, Felix

Gonzalez, Alberto

Hernandez, Alexis

Hidalgo, M.

Jimenez, Magda

Leite, Fabio P. N.

Lopez, Ana M.

Lopez-Soto, Manuel

Lorente, Jose A.

Pagano, Shintia

Palacio, Ana M.

Pestano, Jose J.

Pinheiro, Maria F.

Raimondi, Eduardo

Ramon, M. M.

Tovar, Florangel

Vidal-Rioja, Lidia

Vide, Maria C.

Whittle, Martin R.

Yunis, Juan J.

Garcia-Hirschfel, Julia

机构：

[1] Inst Nacl Toxicol & Ciencias Forenses, Serv Biol, Barcelona, Spain

[2] Comisaria Gen Policia Cient, Biol Sect, ADN, Madrid, Spain

[3] Univ Santiago de Compostela, Inst Med Legal, Fac Med, Unidad Genet, La Coruna, Spain

[4] Inst Nacl Toxicol & Ciencias Forenses, Serv Biol, Madrid, Spain

[5] Univ Porto, Inst Patol & Imunol Mol, P-4100 Oporto, Portugal

[6] Univ Pompeu Fabra, Unitat Biol Evolut, Barcelona, Spain

[7] Univ Madeira, Ctr Biol & Geol Sci, Funchal, Portugal

[8] GENOMICA SAU, Dept Biol Forense, Madrid, Spain

[9] Univ Buenos Aires, Fac Farm & Bioquim, Serv Huellas Digitales Genet, RA-1113 Buenos Aires, DF, Argentina

[10] DataGene, Bizkaia, Spain

[11] Hosp Dr CG Durand, Banco Nacl Datos Genet, Buenos Aires, DF, Argentina

[12] Hematol Lab, Bordeaux, France

[13] Inst Nacl Med Legal, Delegacao Lisboa, Serv Genet & Biol Forense, Lisbon, Portugal

[14] Dept Ciencias Forensese, Unidad Genet Forense, Poder Judicial, Heredia, Costa Rica

[15] Biopatol Med Legal, Madrid, Spain

[16] ADF TecnoGen SL, Madrid, Spain

[17] Inst Nacl Toxicol & Ciencias Forense, Serv Biol, Tenerife, Spain

[18] Serv Criminalist Guardia Civil, Lab Dept Biol, Madrid, Spain

[19] Inst Nacl Med Legal & Ciencias Forenses Santa Fe, Lab DNA, Bogota, Colombia

[20] Univ Complutense Madrid, Fac Med, Dept Med Legal & Forense, E-28040 Madrid, Spain

[21] Inst Nacl Toxicol & Ciencias Forenses, Serv Biol, Seville, Spain

[22] Univ Granada, Dept Med Legal, Lab Identificac Genet, Granada, Spain

[23] Direcc Nacl Policia Tecn Montevideo, Biol Lab, Montevideo, Uruguay

[24] Ctr Anal Genet CAGT, Zaragoza, Spain

[25] Inst Anat Forense, Fac Med, Genet Lab, Las Palmas Gran Canaria, Spain

[26] Inst Med Legal Oporto, Serv Biol Forense, Oporto, Portugal

[27] PRICAI Fdn Favaloro, Buenos Aires, DF, Argentina

[28] Unidad Polimorfismos Genet, Caracas, Venezuela

[29] IMBICE, Lab Identificac Genet, La Plata, Buenos Aires, Argentina

[30] Inst Med Legal, Serv Biol Forense, Coimbra, Portugal

[31] Genom Engn Mol LTDA, Sao Paulo, Brazil

[32] Santafe Bogota DC, Serv Med Yunis Turbay & Cia, Bogota, Colombia

[33] Inst Nacl Toxicol & Ciencias Forenses, Unidad Garantia Calidad, Madrid, Spain

来源：

FORENSIC SCIENCE INTERNATIONAL | 2006年 / 160卷 / 2-3期

关键词：

mtDNA; standardization; collaborative exercise; mixed samples; control region; SNPs;

D O I：

10.1016/j.forsciint.2005.09.005

中图分类号：

DF [法律]; D9 [法律]; R [医药、卫生];

学科分类号：

0301 ; 10 ;

摘要：

We report here a review of the seventh mitochondrial DNA (mtDNA) exercise undertaken by the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) corresponding to the period 2003-2004. Five reference bloodstains from five donors (M1-M5), a mixed stain of saliva and semen (M6), and a hair sample (M7) were submitted to each participating laboratory for nuclear DNA (nDNA; autosomal STR and Y-STR) and mtDNA analysis. Laboratories were asked to investigate the contributors of samples M6 and M7 among the reference donors (M1-M5). A total of 34 laboratories reported total or partial mtDNA sequence data from both, the reference bloodstains (M1-M5) and the hair sample (M7) concluding a match between mtDNA profiles of M5 and NIT Autosomal STR and Y-STR profiling was the prefer-red strategy to investigate the contributors of the semen/saliva mixture (M6). Nuclear DNA profiles were consistent with a mixture of saliva from the donor (female) of M4 and semen from donor M5, being the semen (XY) profile the dominant component of the mixture. Strikingly, and in contradiction to the nuclear DNA analysis, mtDNA sequencing results yield a more simple result: only the saliva contribution (M4) was detected, either after preferential lysis or after complete DNA digestion. Some labs provided with several explanations for this finding and carried out additional experiments to explain this apparent contradictory result. The results pointed to the existence of different relative amounts of nuclear and mtDNAs in saliva and semen. We conclude that this circumstance could strongly influence the interpretation of the mtDNA evidence in unbalanced mixtures and in consequence lead to false exclusions. During the GEP-ISFG annual conference a validation study was planned to progress in the interpretation of mtDNA from different mixtures. (c) 2005 Elsevier Ireland Ltd. All rights reserved.

引用

页码：157 / 167

页数：11

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