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

• Type: Article in International Scientific Journal
• Date: 2006

Authors

Manuel Crespillo (Author) Other; Miguel R Paredes (Author) Other; Lourdes Prieto (Author) Other; Marta Montesino (Author) Other; Antonio Salas (Author) Other; Cristina Albarran (Author) Other; Alvarez Iglesias, V (Author) Other; Antonio Amorin (Author) FCUP; Gemma Berniell Lee (Author) Other; Antonio Brehm (Author) Other; Juan C Carril (Author) Other; Daniel Corach (Author) Other; Nerea Cuevas (Author) Other; Ana M Di Lonardo (Author) Other; Christian Doutremepuich (Author) Other; Rosa M Espinheira (Author) Other; Marta Espinoza (Author) Other; Felix Gomez (Author) Other; Alberto Gonzalez (Author) Other; Alexis Hernandez (Author) Other; Hidalgo, M (Author) Other; Magda Jimenez (Author) Other; Fabio P N Leite (Author) Other; Ana M Lopez (Author) Other; Manuel Lopez Soto (Author) Other; Jose A Lorente (Author) Other; Shintia Pagano (Author) Other; Ana M Palacio (Author) Other; Jose J Pestano (Author) Other; Maria F Pinheiro (Author) Other; Eduardo Raimondi (Author) Other; Ramon, MM (Author) Other; Florangel Tovar (Author) Other; Lidia Vidal Rioja (Author) Other; Maria C Vide (Author) Other; Martin R Whittle (Author) Other; Juan J Yunis (Author) Other; Julia Garcia Hirschfel (Author) Other

Journal

Title: Forensic Science International

Vol. 160

Pages: 157-167

ISSN: 0379-0738

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 20 Citations

Scopus - 21 Citations

Scientific classification

FOS: Medical and Health sciences > Other medical sciences

Other information

Authenticus ID: P-004-JM3

DOI: 10.1016/j.forsciint.2005.09.005

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 11