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.
Keywords: mtDNA haplogroups, single base extension, galician population, PCR-RFLP.
* at the Osteoarticular and Aging Research Laboratory, Biomedical Research Center, Complejo Hospitalario Universitario Juan Canalejo, 15006-A Coruña, Spain; Tel: 34-981-178272; Fax: 34-981-178273;