Abstract
Occurrence of retinoblastoma is associated with inactivation of Rb1 gene which is located in 13q14. According to published data the inactivation of Rb1 gene occurred in 90% retinoblastoma was resulted from either deletion or point mutation or methylation of Rb1 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.
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