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Purpose To identify the spectrum of RB1 gene mutation in Chinese retinoblastoma(RB)patients Methods A total of 38 RB patients,including 15 bilateral cases and 23 unilateral cases were included in this study.DNA samples were extracted from peripheral blood patients and we performed PCR direct sequencing of the promoter and the 27 coding exons of the RB1 gene to screen RB1 mutation.