Biochemical characterization of the mitochondrial tRNAHis T12201C mutation associated with nonsyndro

• 作 者: GONGSha-sha;YANQing-feng;GUANMin-xin;
• 机 构: Department of Genetics, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China 310
• 出 处: 中国遗传学会第九次全国会员代表大会暨学术研讨会
• 发表日期: 2013年期

　　We report here the biochemical characterization of the deafness-associated mitochondrial tRNAHis T12201C mutation, including the measurements of the rates of overall,substrate-promoted respiration, the adenosine triphosphate (ATP) production and generation of reactive oxygen species (ROS).We constructed cybrid cell lines by transferring mitochondria from lymphoblastoid cell lines, derived from four affected matrilineal relatives of the Chinese pedigree carried with this mutation and four control subjects belongs to the same haplogroup, into human mtDNA-less (p0) cells.