Green A J, Smith M, Yates J R
Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.
Nat Genet. 1994 Feb;6(2):193-6. doi: 10.1038/ng0294-193.
Tuberous sclerosis (TSC) is an autosomal dominant condition with characteristic skin lesions, mental handicap, seizures and the development of hamartomas in the brain, heart, kidneys and other organs. Linkage studies have shown locus heterogeneity with a TSC gene mapped to chromosome 9q34 and a second, recently identified on 16p13.3. We have analysed DNA markers in eight hamartomas and one tumour from TSC patients and found allele loss on 16p13.3 in three angiomyolipomas, one cardiac rhabdomyoma, one cortical tuber and one giant cell astrocytoma. We suggest that the TSC gene on 16p13.3 functions like a tumour suppressor gene, in accordance with Knudsen's hypothesis.
结节性硬化症（TSC）是一种常染色体显性疾病，具有特征性的皮肤损害、智力障碍、癫痫发作以及在脑、心脏、肾脏和其他器官中出现错构瘤。连锁研究表明存在基因座异质性，其中一个TSC基因定位于9号染色体长臂3区4带，另一个最近在16号染色体短臂1区3带被发现。我们分析了来自TSC患者的8个错构瘤和1个肿瘤中的DNA标记，发现在3个肾血管平滑肌脂肪瘤、1个心脏横纹肌瘤、1个皮质结节和1个巨细胞星形细胞瘤中16号染色体短臂1区3带存在等位基因缺失。根据克努森假说，我们认为位于16号染色体短臂1区3带的TSC基因起着肿瘤抑制基因的作用。
