The Open Cell Development & Biology Journal
2008, 1 : 10-16Published online 2008 January 25. DOI: 10.2174/18740855008010010
Publisher ID: TOCBJ-1-10
RESEARCH ARTICLE
The Use of Single Base Extension (SBE) for the Assessment of European Mitochondrial DNA Haplogroups in Galician Population
1
Osteoarticular and Aging Research Lab, Biomedical Center Research, Rheumatology Division, CH Universitario Juan Canalejo, Xubias 84, 15006, A Coruña, Spain;
2 Laboratorio Investigacion Enfermedades Mitocondriales, Hospital 12 de Octubre, Madrid, Spain
* 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; E-mail: fblagar@canalejo.org
2 Laboratorio Investigacion Enfermedades Mitocondriales, Hospital 12 de Octubre, Madrid, Spain
* 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; E-mail: fblagar@canalejo.org
ABSTRACT
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.