摘要
视网膜母细胞瘤（RB）的发生与13q14的Rb1基因失活有关，其中约90％的Rb1基因失活是由于Rb1基因的缺失、点突变或甲基化所致。新近的变性高效液相色谱技术（DHPLC）可简便、快速、准确检测基因的点突变、甲基化状态及其含量。目前DHPLC已经在RB患者及其家庭成员的基因诊断和遗传咨询中起重要作用。（中华眼科杂志，2007，43：564-566）
Occurrence of retinoblastoma is associated with inactivation of Rbl gene which is located in 13q14. According to published data the inactivation of Rbl gene occurred in 90% retinoblastoma was resulted from either deletion or point mutation or methylation of Rbl gene. Denaturing high performance liquid chromatography （DHPLC） is capable to detect point mutation simply, rapidly and accurately. Recently developed methods are able to detect DNA methylation and analyze gene copy. DHPLC had been successfully used for gene diagnosis and genetic counseling in retinoblastoma patients and their family members. （Cbin J Ophthalmol , 2007,43：564-566）
出处
《中华眼科杂志》
CAS
CSCD
北大核心
2007年第6期564-566,共3页
Chinese Journal of Ophthalmology
