Methylation status of RB1 promoter in Indian retinoblastoma patients
Methylation status of RB1 promoter in Indian retinoblastoma patients
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DOI：
10.4161/cbt.3.2.620
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发表时间：
2004-02-01
影响因子：
3.6
通讯作者：
Kumaramanickavel, G
中科院分区：
文献类型：
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作者：
Joseph, B;Mamatha, G;Kumaramanickavel, G
视网膜母细胞瘤可由于RB1基因启动子的突变失活或甲基化而发生。RB1基因的5'端有一个600 bp的CpG岛，由必需启动子组成。RB 1启动子区域内CpG岛的超甲基化在单侧视网膜母细胞瘤中有描述。体外和体内研究表明，RB1启动子的甲基化显著降低基因活性。在本研究中，甲基化特异性聚合酶链反应已评估的CpG岛的RB1基因的启动子区域内的甲基化状态，以确定负责在印度患者视网膜母细胞瘤的分子机制。1例单侧和2例双侧非遗传性患者RB1启动子区域甲基化，其中6.6%的患者RB1启动子区域完全甲基化。这项研究表明RB1启动子甲基化不是印度视网膜母细胞瘤患者的主要机制。甲基化分析用于家庭遗传咨询。
Retinoblastoma can arise due to mutational inactivation or methylation of RB1 gene promoter. A 600-bp CpG island consisting of the essential promoter is present at the 5' end of RB1 gene. Hypermethylation of the CpG island within the RB1 promoter region has been described in unilateral retinoblastoma. In vitro and in vivo studies have suggested that methylation of the RB1 promoter dramatically reduces gene activity. In the present study methylation status of the CpG island within the promoter region of RB1 gene has been evaluated by methylation specific polymerase chain reaction to define the molecular mechanism responsible for retinoblastoma in Indian patients. One unilateral and two bilateral nonhereditary patients had methylation of the RB1 promoter region in which 6.6% of our patients had complete methylation of the RB1 promoter region. This study shows methylation of RB1 promoter is not a major mechanism for retinoblastoma patients in India. Methylation analysis is used in genetic counseling of the family.