title: Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP'02-03 proficiency testing trial.
abstract: We report the results of the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) Collaborative Exercise 2002-2003 on mitochondrial DNA (mtDNA) analysis. Six different samples were submitted to the participating laboratories: four blood stains (M1-M2-M3-M4), one mixture blood sample (M5), and two hair shaft fragments (M6). Most of the labs reported consensus results for the blood stains, slightly improving the results of previous collaborative exercises. Although hair shaft analysis is still carried out by a small number of laboratories, this analysis yielded a high rate of success. On the contrary, the analysis of the mixture blood stain (M5) yielded a lower rate of success; in spite of this, the whole results on M5 typing demonstrated the suitability of mtDNA analysis in mixture samples. We have found that edition errors are among the most common mistakes reported by the different labs. In addition, we have detected contamination events as well as other minor problems, i.e. lack of standarization in nomenclature for punctual and length heteroplasmies, and indels. In the present edition of the GEP-ISFG exercise we have paid special attention to the visual phylogenetic inspection for detecting common sequencing errors.
authors.affiliation: Unidad de Genética, Facultad de Medicina de la Universidad de Santiago de Compostela, Instituto de Medicina Legal, A Coruña, Galicia-Spain. apimlase@usc.es
authors.forename: Antonio
authors.initials: A
authors.lastname: Salas
authors.forename: Lourdes
authors.initials: L
authors.lastname: Prieto
authors.forename: Marta
authors.initials: M
authors.lastname: Montesino
authors.forename: Cristina
authors.initials: C
authors.lastname: Albarrán
authors.forename: Eduardo
authors.initials: E
authors.lastname: Arroyo
authors.forename: Miguel R
authors.initials: MR
authors.lastname: Paredes-Herrera
authors.forename: Ana Ma
authors.initials: AM
authors.lastname: Di Lonardo
authors.forename: Christian
authors.initials: C
authors.lastname: Doutremepuich
authors.forename: Isabel
authors.initials: I
authors.lastname: Fernández-Fernández
authors.forename: Alberto González
authors.initials: AG
authors.lastname: de la Vega
authors.forename: Cíntia
authors.initials: C
authors.lastname: Alves
authors.forename: Carlos M
authors.initials: CM
authors.lastname: López
authors.forename: Manolo
authors.initials: M
authors.lastname: López-Soto
authors.forename: José A
authors.initials: JA
authors.lastname: Lorente
authors.forename: Antònia
authors.initials: A
authors.lastname: Picornell
authors.forename: Rosa M
authors.initials: RM
authors.lastname: Espinheira
authors.forename: Alexis
authors.initials: A
authors.lastname: Hernández
authors.forename: Ana Ma
authors.initials: AM
authors.lastname: Palacio
authors.forename: Marta
authors.initials: M
authors.lastname: Espinoza
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Yunis
authors.forename: Anna
authors.initials: A
authors.lastname: Pérez-Lezaun
authors.forename: José J
authors.initials: JJ
authors.lastname: Pestano
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Carril
authors.forename: Daniel
authors.initials: D
authors.lastname: Corach
authors.forename: Ma Conceiçao
authors.initials: MC
authors.lastname: Vide
authors.forename: V
authors.initials: V
authors.lastname: Alvarez-Iglesias
authors.forename: M F
authors.initials: MF
authors.lastname: Pinheiro
authors.forename: Martín R
authors.initials: MR
authors.lastname: Whittle
authors.forename: Antonio
authors.initials: A
authors.lastname: Brehm
authors.forename: Josefina
authors.initials: J
authors.lastname: Gómez
mesh_terms: D001801:Blood Stains; D019411:Clinical Laboratory Techniques / Q000592:standards*; D016172:DNA Fingerprinting / Q000592:standards*; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D006197:Hair / Q000378:metabolism; D006801:Humans; D008297:Male; D010334:Paternity; D010802:Phylogeny; D011786:Quality Control; D017422:Sequence Analysis, DNA / Q000592:standards
chemical_list: D004272:DNA, Mitochondrial