Kohno T, Sekine T, Tobisu K, Oshimura M, Yokota J
Biology Division, National Cancer Center Research Institute, Tokyo, Japan.
Jpn J Clin Oncol. 1993 Aug;23(4):226-31.
von Hippel-Lindau disease (VHL) is an autosomal dominant inherited disease, frequently accompanied by occurrences of renal cell carcinoma (RCC). Both the VHL gene and tumor suppressor genes for RCC have been mapped to the short arm of chromosome 3, although the genes have not yet been identified. An RCC cell line, KC12, was established from a VHL patient. Molecular genetic analyses in conjunction with cytogenetic studies revealed that the short arm of chromosome 3 distal to the D3S4 locus at 3p11 was lost in the RCC cell line as a result of an unbalanced translocation between chromosomes 3p and 5q. Structural and numerical aberrations, including those on chromosome 3p, were not detected in T-lymphocytes from the patient, suggesting that the inherited mutation of the VHL gene at 3p25-26 in this patient was too subtle to be detected by either Southern blot or karyotype analysis. Since no permanent RCC cell line has been established from a VHL patient, this cell line will be a useful source for analyzing the VHL gene at 3p25-26 and tumor suppressor gene(s) at 3p13-21.
冯·希佩尔-林道病（VHL）是一种常染色体显性遗传病，常伴有肾细胞癌（RCC）的发生。VHL基因和RCC的肿瘤抑制基因都已被定位到3号染色体的短臂上，尽管这些基因尚未被确定。从一名VHL患者身上建立了一个RCC细胞系KC12。结合细胞遗传学研究的分子遗传学分析表明，由于3号染色体短臂和5号染色体长臂之间的不平衡易位，RCC细胞系中位于3p11的D3S4位点远端的3号染色体短臂缺失。在该患者的T淋巴细胞中未检测到包括3号染色体短臂上的结构和数量畸变，这表明该患者3p25 - 26处VHL基因的遗传突变过于细微，无法通过Southern印迹法或核型分析检测到。由于尚未从VHL患者身上建立永久性的RCC细胞系，该细胞系将成为分析3p25 - 26处VHL基因和3p13 - 21处肿瘤抑制基因的有用来源。
