Results of the 1999-2000 collaborative exercise and proficiency testing program on mitochondrial DNA of the GEP-ISFG:: an inter-laboratory study of the observed variability in the heteroplasmy level of hair from the same donor

被引:41
作者
Alonso, A
Salas, A
Albarrán, C
Arroyo, E
Castro, A
Crespillo, M
di Lonardo, AM
Lareu, MV
Cubría, CL
Soto, ML
Lorente, JA
Semper, MM
Palacio, A
Paredes, M
Pereira, L
Lezaun, AP
Brito, JP
Sala, A
Vide, MC
Whittle, M
Yunis, JJ
Gómez, J
机构
[1] Inst Toxicol, Dept Madrid, Secc Biol, Madrid 28002, Spain
[2] Fac Med, Inst Med Legal, Santiago De Compostela, Spain
[3] Univ Complutense, Fac Med, Dept Med Legal & Forense, E-28040 Madrid, Spain
[4] DataGene Sondika, Bizkaia, Spain
[5] Inst Toxicol, Dept Barcelona, Secc Biol, Madrid, Spain
[6] Hosp Dr CG Durand, Banco Nacl Datos Genet, Buenos Aires, DF, Argentina
[7] Direcc Gen Guardia Civil, Lab ADN, Jefatura Invest & Criminalist, Madrid, Spain
[8] Inst Toxicol, Secc Biol, Dept Sevilla, Madrid 28002, Spain
[9] Univ Granada, Dept Legal Med, Lab Identificat Genet, Madrid, Spain
[10] ADN, Secc Biol, Serv Cent Analit, Comisaria Gen Policia Cient, Madrid, Spain
[11] Ctr Anal Genet, CAGT, Zaragoza, Spain
[12] Inst Nacl Med Legal & Ciencias Forenses, Lab DNA, Bogota, Colombia
[13] Univ Porto, Inst Patol & Imunol Mol, Oporto, Portugal
[14] Univ Pompeu Fabra, Fac Ciences Salut Vida, Servei Sequenciacio & Anal Fragments, Barcelona, Spain
[15] Univ Palmas Gran Canarias, Fac Med, Inst Anat Forense, Lab Genet, Gran Canarias, Spain
[16] Univ Buenos Aires, Fac Farm & Bioquim, Serv Huellas Digitales Genet, RA-1113 Buenos Aires, DF, Argentina
[17] Inst Med Legal, Serv Biol Forense, Coimbra, Portugal
[18] Genom Engn Mol Ltda, Sao Paulo, Brazil
[19] Serv Med Yunis Turbay & Cia, Bogota, Colombia
[20] Inst Toxicol, Unidad Garantia de Calidad, Madrid, Spain
关键词
mitochondrial DNA (mtDNA) polymorphism; standardization; collaborative exercise; forensic science heteroplasmy; hair shafts;
D O I
10.1016/S0379-0738(01)00602-8
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
The Spanish and Portuguese working group (GEP) of international society for forensic genetics (ISFG) 1999-2000 collaborative exercise on mitochondrial DNA (mtDNA) included the analysis of four bloodstain samples and one hair shaft sample by 19 participating laboratories from Spain, Portugal and several Latin-American countries. A wide range of sequence results at position 16,093 of the HV 1 (from T or C homoplasmy to different levels of heteroplasmy) were submitted by the different participating laboratories from the hair shaft sample during the first phase of this exercise. During the discussion of these results in the Annual GEP-ISFG 2000 Conference a second phase of this exercise was established with two main objectives: (i) to evaluate the incidence of the HV I sequence heteroplasmy detected in Phase I across different sample types from the same donor including blood, saliva, and hair shafts, (ii) to perform a technical review or the electropherograms to evaluate the relative levels of heteroplasmies obtained by the different laboratories and also to examine the source of possible errors detected in Phase 1. Anonymous review of the raw sequence data permitted the detection of three transcription errors and three errors due to methodological problems. Highly variable levels of heteroplasmy were found in the hair shaft and more stability in blood and saliva. Three laboratories found variable levels of heteroplasmy at position 16,093 across adjacent fragments from the same hair shaft. Two laboratories also described more than one heteroplasmic position from a single hair. The relevance of these findings for the interpretation of mtDNA data in the forensic context is also discussed. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.
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页码:1 / 7
页数:7
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