Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.

Analysis of RB1 mRNA from blood leukocytes of patients with retinoblastoma identified the effects of mutations involving consensus splice site, exonic substitution and whole-exon deletions identified in genomic DNA of these patients. In addition, this study identified mutations in cases in which no mutations were detectable in the genomic DNA. One proband had mutation at the canonical splice site at +5 position of IVS22, and analysis of the transcripts in this family revealed skipping of exon 22 in three members of this family.

RB1 gene mutations in retinoblastoma and its clinical correlation.

Purpose: To find correlation between the type of mutations observed and the severity of the disease using multiple techniques like polymerase chain reactions (PCR), quantitative multiplex PCR, sequencing and RNA analysis.

Methods: Prospective, observational study. Patients who had been screened for mutations in the RB1 gene were included in the study.

A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma.

Retinoblastoma (Rb) is the most common primary intraocular malignancy in children. It is brought about by the mutational inactivation of both alleles of RB1 gene in the developing retina. To identify the RB1 mutations, we analysed 74 retinoblastoma patients by screening the exons and the promoter region of RB1.