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The Use of Single Base Extension (SBE) for the Assessment of European Mitochondrial DNA Haplogroups in Galician Population

机译:使用单碱基扩展(SBE)评估加利西亚人口中的欧洲线粒体DNA单倍群

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Evidences are accumulating on the effects of the mtDNA variants on many complex traits due to the contribution of mtDNA to cellular physiology. More and more studies are being carried out in order to investigate the possible associations between these mtDNA variants or haplogroups and multifactorial complex diseases. Since the required sample size is high, these large-scale epidemiology studies require a suitable method to assign the mtDNA haplogroups in a rapid, accuracy and cost effective manner. In this study we present an assay, based on primer base extension, which permits the rapid genotyping of samples for the assessment of major European mtDNA haplogroups.
机译:由于mtDNA对细胞生理的贡献,有关mtDNA变体对许多复杂性状的影响的证据正在积累。为了研究这些mtDNA变异体或单倍群与多因素复杂疾病之间可能的联系,正在进行越来越多的研究。由于所需的样本量很大,因此这些大规模的流行病学研究需要一种合适的方法来快速,准确和经济高效地分配mtDNA单倍型。在这项研究中,我们提出了一种基于引物碱基延伸的检测方法,该方法可以对主要的欧洲mtDNA单倍型进行快速基因分型。

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