Preliminary Report of Molecular Detection of Retinoblastoma Gene Mutations

被引：0
作者：
Ruiping Zeng Xiaoling Jiang Qingjiong Zhang Bing Hu Youzhao ChenDepatrment of Medical Genetics Sun Yatsen University of Medical Sciences Guangzhou ChinaZhongshan Ophathalmic Center Sun Yatsen University of Medical Sciences Guangzhou ChinaNational Ophthalmological Laboratories Ministry of Public health China Guangzhou ChinaNanjing Medical Schoool Nanjing China [510089 ,510060 ,510060 ,210000 ]
机构：
来源：
眼科学报 | 1994年 / 01期
关键词：
retinoblastoma; Rb gene probe; Southern blot hybridization;
D O I：
暂无
中图分类号：
R739.7 [眼肿瘤];
学科分类号：
摘要：
<正> 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 wtithout detectable variations in Southern hybridization. Eye Science 1994; 10: 1-5.
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页码：1 / 5
页数：5
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