Zeng R, Jiang X, Zhang Q, Hu B, Chen Y
Department of Medical Genetics, Sun Yat-sen University of Medical Sciences, Guangzhou, China.
Yan Ke Xue Bao. 1994 Mar;10(1):1-5.
To develop gene diagnosis for retinoblastoma predisposition, it is necessary to disclose the retinoblastoma gene mutations or deletions in detail. Genomic DNA from tumor and peripheral white blood cells in 33 patients with retinoblastoma was detected with 3.8kb probe derived from 3' end of retinoblastoma gene cDNA. The gene abnormalities, including deletion, partial deletion and rearrangement, were found in 18 patients. Further research will be aimed at microdeletions or mutations for those patients without detectable variations in Southern hybridization.
为开展视网膜母细胞瘤易感性的基因诊断，有必要详细揭示视网膜母细胞瘤基因的突变或缺失情况。用源自视网膜母细胞瘤基因cDNA 3'端的3.8kb探针检测了33例视网膜母细胞瘤患者肿瘤组织及外周血白细胞的基因组DNA。在18例患者中发现了基因异常，包括缺失、部分缺失和重排。对于那些在Southern杂交中未检测到变异的患者，进一步的研究将针对微缺失或突变。
