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Updated: May 25, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Mitochondrial DNA control region variation in an autochthonous Basque population sample from the Basque Country
Sergio Cardoso1, María Jesús Villanueva-Millán, Laura Valverde
1BIOMICs Research Group, Centro de Investigación y Estudios Avanzados Lucio Lascaray, Universidad del País Vasco UPV/EHU, Avda. Miguel de Unamuno 3, 01006 Vitoria-Gasteiz, Spain.
Abstract:
Mitochondrial control region (16024-576) sequences were generated from 106 samples from autochthonous Basques from the Autonomous Community of the Basque Country. It is especially important to generate mtDNA databases from isolated populations in order to maximize the power of discrimination of this molecular marker. It also represents a useful approach to carry out a more accurate haplogroup classification. This is the first database report of complete control region sequences in an autochthonous Basque population sample. Strict selection criteria of autochthonous individuals, automation of laboratory processing and independent reviews of the raw electropherograms ensure the high quality of these sequences and their utility as reference population data of the autochthonous Basque population.
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