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Title: Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: Focus on the mtDNA profile of a mixed semen-saliva stain
Authors: Crespillo, Manuel
Paredes, Miguel R.
Prieto, Lourdes
Montesino, Marta
Salas, Antonio
Albarran, Cristina
V, Álvarez Iglesias
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
Gómez, Felix
González, Alberto
Hernández, Alexis
Hidalgo, M.
Jimenez, Magda
Leite, Fabio P.N.
López, Ana M.
López-Soto, Manuel
Lorente, Jose A.
Pagano, Shintia
Palacio, Ana M.
Pestano, José J. 
Pinheiro, Maria F.
Raimondi, Eduardo
Ramón, M. M.
Tovar, Florangel
Vidal-Rioja, Lidia
Vide, Maria C.
Whittle, Martín R.
Yunis, Juan J.
Garcia-Hirschfel, Julia
UNESCO Clasification: 32 Ciencias médicas
320102 Genética clínica
3203 Medicina forense
Keywords: Mithocondrial DNA
Issue Date: 2006
Journal: Forensic Science International 
Abstract: 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 M7. Autosomal STR and Y-STR profiling was the preferred 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.
ISSN: 0379-0738
DOI: 10.1016/j.forsciint.2005.09.005
Source: Forensic Science International [ISSN 0379-0738],v. 160, p. 157-167
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