Biochemical characterization of the mitochondrial tRNAHis T12201C mutation associated with nonsyndro

来源 :中国遗传学会第九次全国会员代表大会暨学术研讨会 | 被引量 : 0次 | 上传用户:epwangke96
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
  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.
其他文献
目的:研究病案质量中知情同意书的证据性,减少医疗纠纷.方法:从法律角度探讨影响知情同意书证据性的因素.结果:对知情同意书形成过程中的真实、准确、客观,行使知情告知进行了分析.结论:医护人员应认真学习相关法律法规,做好知情同意工作,维护医患双方合法权益,减少医疗纠纷.
作为医院信息系统建设的核心,电子病历系统目前并没有发挥它的最大功能和潜力,作者从电子病历系统的概念、基本功能介绍入手,阐述了电子病历系统对于提高医疗质量、实践循证医学和临床路径、对接医疗保险、开展远程会诊和双向转诊中的重要作用.
Rice is the most important staple food for a large part of the worlds human population and also a key model organism for biological studies of crops as well as other related plants.However, most rice-
会议
基因组多倍化是生物界中的一个普遍现象,重复基因对(gene pair)的进化命运是生物进化的研究热点.阐明重复基因的进化历程及其在应对新环境中的响应机制对于生物体适应性研究具有重要意义.大豆基因组经历过两轮大的多倍化事件,由此产生了全基因组水平的基因重复,研究表明,部分重复基因在功能上已经产生了分化,而有些重复基因在进化中还存在功能上的冗余.揭示大豆基因组重复基因对的分化机制及其序列结构上的变异,
利用理化诱变创造新的遗传变异可以为作物遗传改良提供新的遗传资源,分蘖和株高是与小麦产量相关的重要农艺性状.本研究通过EMS处理普通小麦品种望水白,诱变得到一个矮秆多蘖突变体NAUH167.与野生型相比,突变体株高从132.47厘米降到69.70厘米,每个节间都缩短但节间数未变;总分蘖数从21.13个增加到60.86个;表现出典型的矮秆、多分蘖特性.对穗下节细胞进行显微观察,结果显示突变体中细胞数目
小麦品种望水白是高抗赤霉病的地方品种,利用快中子辐射望水白获得了一个稳定的干赤霉病突变体.前期研究表明,该突变体由于定位于小麦3B染色体短臂上的主效QTL缺失,导致其感病性提高.为了研究望水白响应赤霉菌侵染的分子机制,本研究利用Affymetrix Wheat Genome GeneChip进行基于基因芯片杂交的转录组分析,比较抗感材料中受赤霉菌诱导前后差异表达基因.结果表明,在望水白中检测到的上
MYO7A gene encodes an unconventional myosin, which is essential for well functioned hair cells of inner ear.Mutations in MYO7A have been associated with nonsyndromic hearing loss.Here we report clinic
Many previous studies have shown that maternal ethanol exposure can induce physical and mental disorders in offspring, but the effect of paternal ethanol exposure on offspring is not clear.The changes
We reported earlier that transcription factor XBP1S binds to RUNX2 and enhances chondrocyte hypertrophy through functions as a cofactor of RUNX2.Herein we report that XBP 1S is a key downstream molecu
Coronary heart disease (CHD) is the leading cause of death worldwide.Mitochondrial genetic determinant for the development of CHD remains poorly explored.We report there the clinical, genetic, molecul