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Updated: Jul 11, 2026
A Blood-based Test for the Detection of ROS1 and RET Fusion Transcripts from Circulating Ribonucleic Acid Using Digital Polymerase Chain Reaction
Published on: April 5, 2018
[Denaturing high performance liquid chromatography and its application in retinoblastoma gene diagnosis]
1Central Experimental Laboratory, The First People's Hospital, Shanghai Jiaotong University, Shanghai 200080, China.
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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