mtDNA

Molecular characterization of a Han Chinese family with essential hypertension

J. F. Zhu, Zhang, X., Ling, L., Zhu, J. F., Zhang, X., and Ling, L., Molecular characterization of a Han Chinese family with essential hypertension, vol. 15, p. -, 2016.

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.

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