New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.

ABSTRACT:

Background

R0 embraces the most common mitochondrial DNA (mtDNA) lineage in West Eurasia, namely, haplogroup H (approximately 40%). R0 sub-lineages are badly defined in the control region and therefore, the analysis of diagnostic coding region polymorphisms is needed in order to gain resolution in population and medical studies.

Methodology/principal findings

We sequenced the first hypervariable segment (HVS-I) of 518 individuals from different North Iberian regions. The mtDNAs belonging to R0 (approximately 57%) were further genotyped for a set of 71 coding region SNPs characterizing major and minor branches of R0. We found that the North Iberian Peninsula shows moderate levels of population stratification; for instance, haplogroup V reaches the highest frequency in Cantabr

SUBMITTER: Alvarez-Iglesias V 

PROVIDER: S-EPMC2660437 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature