Identification of germline and somatic mutations affecting the retinoblastoma gene.

摘要: Retinoblastoma (RB) is a malignant tumor of developing retina that arises when abnormalities resulting in loss function affect both alleles the gene at retinoblastoma locus (RB1) on chromosome 13q. The majority RB tumors do not show gross alterations 4.7-kb fragment (4.7R), which candidate RB1 gene. To search for more subtle mutations, ribonuclease protection method was used to analyze 4.7R messenger RNA from tumors. Five 11 tumors, exhibit normal DNA and normal-sized transcripts, showed abnormal cleavage patterns. Three five mutations affected same region RNA, consistent with an effect splicing involving as yet unidentified 59 exon. high frequency supports identification However, unusual nature some 4.7 R indicates accepted sequence genetic events involved genesis may require reevaluation.