期刊文献+

线粒体基因组单倍体型与药物性聋相关突变 被引量:2

原文传递
导出
摘要 人类线粒体DNA(mitochondrial DNA,mtDNA)是独立于细胞核染色体外的基因组,存在大量的多态性位点,位于mtDNA复制控制区的D—loop序列因不编码蛋白,进化过程中选择压力相对较小,因而具有较其他区域更高的变异,有利于对亲缘关系较近的群体进行研究。mtDNA为严格的母系遗传,通过对mtDNA差异的分析可以重现人群的母系进化史。mtDNA的突变率较高,
出处 《中华耳鼻咽喉头颈外科杂志》 CAS CSCD 北大核心 2008年第6期474-476,共3页 Chinese Journal of Otorhinolaryngology Head and Neck Surgery
  • 相关文献

参考文献34

  • 1Cann RL, Stoneking M, Wilson AC. Mitochondrial DNA and human evolution. Nature, 1987,325:31-36.
  • 2Wallace DC, Brown MD, Lott MT. Mitochondrial DNA variation in human evolution and disease. Gene, 1999,238:211-230.
  • 3Yao YG, Kong QP, Bandelt H J, et al. Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet, 2002,70: 635 -651.
  • 4Prezant TR, Aqapian JV, Bohlman MC, et al. Mitochondrialribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet, 1993, 4 : 289 -294.
  • 5Li Z, Li R, Chen J, et al. Mutational analysis of the mitochondrial 12S rRNAgene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic heating loss. Hum Genet, 2005,117:9 - 15.
  • 6Bacino C, Prezant TR, Bu X, et al. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics, 1995, 5 : 165-172.
  • 7Tessa A, Giannotti A, Tieri L, et al. Maternally inherited deafness associated with a T1095C mutation in the mDNA. Euro J Hum Genet,2001,9 : 147-149.
  • 8Hutehin T, Parker M, Young I, et al. A novel mutation in the mitochondrial tRNA (Ser (UCN)) gene in a family with non-syndromie sensorineural hearing impairment. J Med Genet, 2000,37:692-694.
  • 9Sue C ,Tanji K, Hadjigeorgiou G, et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA ( Ser ( UCN ) ) gene. Neurology, 1999, 52 : 1905-1908.
  • 10Pandya A, Xia X, Erdenetungalag R, et al. Heterogenous point mutations in the mitochondrial tRNA Ser (UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am J Hum Genet,1999,65:1803-1806.

二级参考文献7

共引文献166

同被引文献20

引证文献2

二级引证文献9

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部