Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros











Base de dados
Intervalo de ano de publicação
1.
Genet Mol Res ; 15(2)2016 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-27323027

RESUMO

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/tRNA(Lys) 9-bp common deletion, as well as a set of polymorphisms belonging to the East Asia haplogroup B5b1. The well-known T16189C mutation, which is in the first hypervariable segment of the mitochondrial control region, is implicated to be associated with a wide range of clinical disorders. Moreover, the genetic polymorphism 9-bp common deletion is found to be associated with hepatocellular carcinoma in the Han Chinese population. Thus, the combination of T16189C mutation and the 9-bp deletion may have caused mitochondrial dysfunction and contributed to the development of essential hypertension in this Chinese family.


Assuntos
DNA Mitocondrial/genética , Hipertensão/genética , Povo Asiático/genética , China , Hipertensão Essencial , Etnicidade/genética , Feminino , Predisposição Genética para Doença , Genoma Mitocondrial , Humanos , Hipertensão/metabolismo , Masculino , Mitocôndrias/genética , Mutação , Linhagem , Penetrância , Polimorfismo Genético
2.
Journal of Periodontology;65(8): 781-787,
em Inglês | URUGUAIODONTO | ID: odn-10437
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA