Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.

Article Details

Citation

Liu Z, Song Y, Bia B, Cowell JK

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.

Genes Chromosomes Cancer. 1995 Dec;14(4):277-84.

PubMed ID
8605116 [ View in PubMed
]
Abstract

We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis. For improvement over previous studies, a new set of primers has been designed, which allow for amplification of the coding and splicing sequences only. The positioning of the polymerase chain reaction (PCR) primers was such that the resulting PCR products were of different sizes, which enabled us to analyze two different exons simultaneously and still distinguish between the banding profiles for both (biplex analysis). By using this approach, we were able to identify mutation in 22 new patients, but the overall efficiency of the procedure when we used a single-pass regimen was only 48%. The mutations were small insertions and deletions and point mutations in roughly equal proportions.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Retinoblastoma-associated proteinP06400Details