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Variability of the Entire Mitochondrial DNA Control Region in a Human Isolate from the Pas Valley (Northern Spain)

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In this study, we analyzed the entire mtDNA control region in 61 unrelated individuals from the Pas Valley (Cantabria), a human isolate from northern Spain, to evaluate the suitability of this analysis to increase the power of discrimination of this locus for forensic purposes in human isolates. Low values obtained for the diversity parameters confirmed the relative isolation of this human group. The main findings of this study indicated that even the analysis of the entire mtDNA control region may have important limitations for use in forensic casework when dealing with human isolates: none of the 44 individuals who exhibited identical HVI-HVII haplotypes could be further differentiated by analysis of segment HVIII. Nevertheless, analysis of the entire mtDNA control region proved to be useful to determine the ancestry of the samples examined, by contributing to the confirmation, and, on occasion, even to the refinement of the haplogroup assignment.

Keywords: D-loop region; Pas Valley; forensic science; haplogroup; human isolate; mitochondrial DNA

Document Type: Research Article


Affiliations: 1: BIOMICS Research Group, Centro de Investigación y Estudios Avanzados “Lucio Lascaray,” Universidad del País Vasco, Miguel de Unamuno 3, 01006, Vitoria-Gasteiz, Spain. 2: Unidad de Medicina Legal, Universidad de Cantabria, Av Herrera Oria s/n, 39011 Santander, Spain.

Publication date: September 1, 2010


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