Retinoblastoma

Studies in the area of retinoblastoma reported from D. Mitter and co-researchers

Published in Cancer Weekly, March 24th, 2009

According to a study from Essen, Germany, "Retinoblastoma (Rb) is initiated by germline mutations in the RB1 gene. Up to date, no mutation was identified in exons 26 and 27."

"We have identified a 2 bp frameshift insertion in exon 27 of the RB1 gene (RBg.177008_177009dup) in a boy with unilateral Rb and his healthy father that has occurred de novo on the allele transmitted by the father's father. RT-PCR showed that the mutant +2 bp transcript is present in RNA from peripheral leukocytes after short-term culture. The level of the mutant transcript was low compared to the normal transcript indicating abnormal expression of the variant allele. The mutant transcript was...

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Source: Cancer Weekly (2009-03-24)

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