a statistical framework for the interpretation of mtdna mixtures forensic and medical applications一个统计的解释框架mtdna混合物法医和医疗应用程序.pdfVIP

A Statistical Framework for the Interpretation of mtDNA Mixtures: Forensic and Medical Applications 1 2 Thore Egeland *, Antonio Salas * ´ 1 Department of Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, Oslo, Norway, 2 Unidade de Xenetica, Instituto de Medicina Legal and ´ ´ Departamento de Anatomıa Patoloxica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain Abstract Background: Mitochondrial DNA (mtDNA) variation is commonly analyzed in a wide range of different biomedical applications. Cases where more than one individual contribute to a stain genotyped from some biological material give rise to a mixture. Most forensic mixture cases are analyzed using autosomal markers. In rape cases, Y-chromosome markers typically add useful information. However, there are important cases where autosomal and Y-chromosome markers fail to provide useful profiles. In some instances, usually involving small amounts or degraded DNA, mtDNA may be the only useful genetic evidence available. Mitochondrial DNA mixtures also arise in studies dealing with the role of mtDNA variation in tumorigenesis. Such mixtures may be generated by the tumor, but they could also originate in vitro due to inadvertent contamination or a sample mix-up. Methods/Principal Findings: We present the statistical methods needed for mixture interpretation and emphasize the modifications required for the more well-known methods based on convent