a reduced number of mtsnps saturates mitochondrial dna haplotype diversity of worldwide population groups减少数量的mtsnps浸透线粒体dna单体型全球人群的多样性.pdfVIP

A Reduced Number of mtSNPs Saturates Mitochondrial DNA Haplotype Diversity of Worldwide Population Groups 1 1,2 Antonio Salas *, Jorge Amigo ´ ´ ´ 1 Unidade de Xenetica, Departamento de Anatomıa Patoloxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de ´ Compostela, Galicia, Spain, 2 Grupo de Medicina Xenomica, Universidade de Santiago de Compostela, Galicia, Spain Abstract Background: The high levels of variation characterising the mitochondrial DNA (mtDNA) molecule are due ultimately to its high average mutation rate; moreover, mtDNA variation is deeply structured in different populations and ethnic groups. There is growing interest in selecting a reduced number of mtDNA single nucleotide polymorphisms (mtSNPs) that account for the maximum level of discrimination power in a given population. Applications of the selected mtSNP panel range from anthropologic and medical studies to forensic genetic casework. Methodology/Principal Findings: This study proposes a new simulation-based method that explores the ability of different mtSNP panels to yield the maximum levels of discrimination power. The method explores subsets of mtSNPs of different sizes randomly chosen from a preselected panel of mtSNPs based on frequency. More than 2,000 complete genomes representing three main continental human population groups (Africa, Europe, and Asia) and two admixed populations (‘‘African-Americans’’ and ‘‘Hispanics’’) were collected from GenBank and the literature, and were used as training sets. Haplotype diversity was measured for each combina