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结节性硬化症基因研究发展状态综述 被引量:3

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摘要 结节性硬化症(TSC)是一种常染色体显性遗传疾病,由TSC1和TSC2两个基因异常引起,临床以智力低下、癫痫和面部血管纤维瘤三联症为主要表现,身体其他器官、组织也可受累,但近期研究发现临床上大约1/2的TSC患者智力正常,约1/4没有癫痫。近年来基因技术的迅速发展,使人们对该病的复杂性有更深入的了解。本文就结节性硬化症基因方面的研究发展状态作一综述。
出处 《中国医药指南》 2010年第26期42-44,共3页 Guide of China Medicine
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参考文献36

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二级参考文献11

  • 1The European chromosome16 sclerosis consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305 - 1315.
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  • 5Krymskaya VP. Tumour suppressors hamartin and tuberin: intracellular sigrkalling. Cell Signal 2003;15:729- 739.
  • 6Jones AC, Shyamsundar MM, Thomas MW, et al. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999;64(5) : 1305- 1315.
  • 7Rose VM, Au KS, Pollom G, et al. Germ- Line mosaicism in tuberous sclerosis: how common. Hum Genet 1999;64:986- 992.
  • 8Beauchamp RL, Banwell A, McNamara P, et al. Exon scanning of the entire TSC2 gene for gennline mutations in 40 unrelated patients with tuberous sclerosis. Hum Mutat 1998; 12(6) :408 - 416.
  • 9Noonan DJ, kou D, Griffith N, et al. A calmodulin binding site inthe tuberous sclerosis 2 gene product is essential for regulation of-transcription events and is altered by mutations linked to tuberoussclerosis and lymphangioleiomyomatosis. Arch Biochem Biophys 2002;398:132 - 140.
  • 10Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001 ;68:64 - 80.

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