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最近有证据表明骨肉瘤的发生中也涉及到视网膜母细胞瘤基因(Rb)的突变。作者用Rb基因的cDNA探针(Rb-1和Rb-5)通过Southern杂交分析研究了30例骨肉瘤(无眼肿瘤家族史)Rb基因的结构异常。13例(43.3%)有Rb基因的结构异常,包括Rb基因的全部或部分缺失及重排,其中7例纯合性缺失,6例半合性缺失或重排,后者5例每一片段的密度减少到正常细胞的一半,表明在其中的一条同源染色体上全部Rb基因缺失。用RFLP和酯酶D的泳动率分析13号染色体等位基因的合子性,28/30例病人白细
There is recent evidence that mutations in the retinoblastoma gene (Rb) are also involved in the development of osteosarcoma. The authors used Rb gene cDNA probes (Rb-1 and Rb-5) to analyze the structural abnormalities of Rb gene in 30 cases of osteosarcoma (with no family history of eye tumors) by Southern blot analysis. 13 cases (43.3%) had structural abnormalities of Rb gene, including complete or partial deletion and rearrangement of Rb gene, of which 7 were homozygously absent, 6 were hemizygously deleted or rearranged, and the latter 5 cases were each fragmented. The density is reduced to half that of normal cells, indicating that all Rb genes are missing on one of the homologous chromosomes. Analysis of the zygosity of chromosome 13 alleles using the motility of RFLP and esterase D, 28/30 patients