重视开展视网膜母细胞瘤的基因诊断工作.pdfVIP

中华实验眼科杂志 2013 年 7 月第 31 卷第 7 期 Chin J Exp Ophthalmol ,July 2013 ,Vo l. 31 ,No. 7 . 617 . ·专家述评· 重视开展视网膜母细胞瘤的基因诊断工作 陈长征郁想想 [摘要】 近年来，综合治疗技术的进步提高了视网膜母细胞瘤( RB) 患儿的生存率和生活质量。不容忽 视的是，部分 RB 患者在首次治疗后仍可复发，并且 RB 患者的亲属也有患病的风险，而解决这些问题需要借 助基因诊断和治疗技术。目前发达国家和中国香港地区学者将基因诊断用于指导 RB 群体的治疗和生育，已 取得一定的成效，但目前 Rb1 基因突变整体检出率仍然偏低。多年的研究显示，RB 的基因诊断工作是极其复 杂的领域;真正实现为 RB 患者及其家庭给予全面、准确的遗传指导仍然任重道远。在中国，基因诊断的临床 和基础研究工作正处于起步阶段，与发达国家相比尚有很大的差距，应重视 RB 的基因诊断工作，加快中国此 项工作的推广和普及。 [关键词] 肿瘤;视网膜母细胞瘤;遗传;基因诊断;生育指导 The importance of carrying out the gene diagnosis for retinoblastoma CHEN Chαng-zheng ， YU Xiang-xiang. Department of Ophthalmology ,Renmin Hospital of Wuhαn University , Wuhan 430060 , Chinα Corresponding author: CHEN Chαng-zheng ， Email: whuchenchzh@163.com [Abstract] The progress of modal盯 therapy has improved both survival rate and qual町 of life of retinoblastoma( RB) patients. However ,some problems are still left and unsolved. Parts of the RB relapse after they are treated for the first time. Even more remarkable , the related individuals to the RB patients run a risk of RB. Gene diagnosis and treatment are emerging and appear to solve these problems. Some researches in developed countries and Hong Kong have successfully made progress in gene diagnosis of RB. However ,the detection rate of Rb1 gene mutation is very low. Researches documented for many years that gene diagnosis for RB is extremely complex , 50 we should go further to achieve a goal of gene diagnosis. Gene diagnosis of RB is still an initiation in China. We should strengthen relevant study and spread this technique [Key words] Tumor; Retinoblastoma; Hered向; Gene diagnosis; Fertility guidance 视网膜母细胞瘤(retinoblastoma , RB )是儿童眼内 Rbl 基因的整体突变检出率较低，主要与 Rbl 基因突 变方式的复杂性和检测方法的局限