Molecular characterization of a Han Chinese family with essential hypertension
Mutations in the mitochondrial genome have been found to be associated with essential hypertension. Here, we report the clinical and molecular characterization of a three-generation Han Chinese family with maternally inherited hypertension. Most strikingly, this pedigree exhibited a high penetrance of hypertension. Sequence analysis of the mitochondrial genome showed the presence of a homoplasmic T16189C mutation in the D-loop and the intergenic CO2/tRNALys 9-bp common deletion, as well as a set of polymorphisms belonging to the East Asia haplogroup B5b1.