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视网膜母细胞瘤(RB)是婴幼儿易发的肿瘤,有家族型和散发型。根据生殖细胞和肿瘤细胞核型特征提出的“二次突变假说”,说明13号染色体长臂上的两个等位基因缺失或失活导致RB。用克隆的4.7kb cDNA检测RB标本有缺失和点突变的改变形式。RB_1基因与其它类型的肿瘤发生有关,有家族史的RB病人在治疗后几年常有引发第二肿瘤的可能,常见的有骨肉瘤以及各种类型的软组织瘤。在骨肉瘤中已俭测到RB_1基因的结
Retinoblastoma (RB) is an infantile and prone to tumor, with familial and sporadic forms. According to the “secondary mutation hypothesis” proposed by the karyotypic characteristics of germ cells and tumor cells, the deletion or inactivation of two alleles on the long arm of chromosome 13 results in RB. The cloned 4.7 kb cDNA was used to detect RB specimens with altered forms of deletions and point mutations. The RB1 gene is associated with the occurrence of other types of tumors. Patients with family history of RB often have the potential to initiate a second tumor several years after treatment. Osteosarcoma and various types of soft tissue tumors are common. The knot of RB_1 gene has been detected in osteosarcoma