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Germline mutations in the RB1 gene in patients with hereditary retinoblastoma
Author(s) -
Liu Zaoxia,
Song Yue,
Bia Britta,
Cowell John K.
Publication year - 1995
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870140406
Subject(s) - exon , genetics , point mutation , biology , retinoblastoma , gene , polymerase chain reaction , coding region , microbiology and biotechnology , mutation
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 mutations 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.