OBJECTIVE:The hereditary form of retinoblastoma(RB)is a monogenic disorder which is due to germinal mutation of RB susceptibility gene located on 13q14.The majority of hereditary RB cases transmit as a Mendelian autosomal dominant inheritance that 50% of the offspring of a carrier will inherit the disorder susceptibility gene and all carriers will develop the disorder.The authors report 3 hereditary RB families with incompleted penetrance and irregular transmission of RB phenotype.
METHOD:RFLPsamp;VNTRs for analysis of haplotype and SSCPamp;direct DNA sequencing for determination of RB point mutation.
RESULTS:The mosaicism of Rb gene point mutation resulted in the incompleted penetrance and irregular transmission of RB phentype.
CONCLUSION:DAN-based diagnosis can be used to differentiate the hereditary and nonhereditary forms of retinblastoma but only is the direct detection of disease-causing mutation reliable for determnation of carrier and estimation of th e risk for retinoblastoma.
（Chin J Ocul Fundus Dis,1996,12: 37- 40）
