Cheadle J P, Reeve M P, Sampson J R, Kwiatkowski D J
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
Hum Genet. 2000 Aug;107(2):97-114. doi: 10.1007/s004390000348.
Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.
在过去十年中，对于结节性硬化症的分子遗传学研究取得了显著进展。结节性硬化症是一种以多个器官出现错构瘤性生长为特征的疾病。我们回顾了这一进展，从负责该疾病的基因TSC1和TSC2的克隆与特性分析，到深入了解其蛋白产物错构瘤素和结节素的功能，以及动物模型的鉴定与构建。我们还首次全面汇编并分析了所有已报道的TSC1和TSC2突变，探讨了它们的诊断意义，并回顾了基因型/表型关系。
