Gallie B L
Ophthalmology. 1980 Jun;87(6):591-5. doi: 10.1016/s0161-6420(80)35193-2.
Although the presence of the retinoblastoma (RB) gene is usually made obvious by bilateral RB tumors, unaffected relatives of RB patients and unilateral RB patients may also carry the gene. Patients with 13q14 deletion have RB, and segregation of RB with markers (Q-banding and Esterase D) on chromosome 13 can be studied in some two-generation RB families. Radiosensitivity of fibroblasts may be a marker or may be present only in chromosome 13 deletion patients. Growth properties of fibroblasts suggest that the RB gene itself is expressed in normal cells. Ultimately, gene-carrier detection may be achieved by defining gene expression, gene product, or by cloning the gene itself.
尽管视网膜母细胞瘤（RB）基因的存在通常通过双侧RB肿瘤表现得很明显，但RB患者的未患病亲属和单侧RB患者也可能携带该基因。13q14缺失的患者患有RB，在一些两代RB家族中，可以研究RB与13号染色体上的标记物（Q带和酯酶D）的分离情况。成纤维细胞的放射敏感性可能是一种标记，或者仅存在于13号染色体缺失的患者中。成纤维细胞的生长特性表明RB基因本身在正常细胞中表达。最终，通过定义基因表达、基因产物或克隆基因本身，可能实现对基因携带者的检测。
