PMID: 8605116Dec 1, 1995Paper

Germline mutations in the RB1 gene in patients with hereditary retinoblastoma

Genes, Chromosomes & Cancer
Z LiuJ Cowell

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.

References

Jul 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·Z OnadimJ K Cowell
Jul 1, 1992·British Journal of Cancer·G J DraperM M Hawkins
Aug 25, 1991·Proceedings of the National Academy of Sciences of the United States of America·M HiguchiS E Antonarakis
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Aug 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·A HoggJ K Cowell

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Citations

Aug 12, 1998·International Journal of Cancer. Journal International Du Cancer·K OgawaraH Tanzawa
Feb 8, 2006·Journal of Human Genetics·Katia SampieriMirella Bruttini
Sep 1, 1996·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·J K Cowell, H Cragg
May 17, 2000·Cancer Genetics and Cytogenetics·J DamjanovichM Balázs
Jun 1, 1997·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·J K CowellG Morgan
May 1, 1997·Nature Biotechnology·C Eng, J Vijg
Mar 20, 2010·Cancer Cell International·Shauna A HenleyFrederick A Dick
Jul 19, 2011·Cancer Genetics·Ali AhaniMohammad Taghi Akbari
Mar 19, 2005·Human Mutation·Theru A SivakumaranPeter J Oefner
Jan 15, 2004·Human Mutation·C HoudayerD Stoppa-Lyonnet
Oct 29, 1998·Gynecologic Oncology·C M Schehl, G K Ostrander
Mar 31, 2005·Journal of Radiological Protection : Official Journal of the Society for Radiological Protection·J K CowellE J Tawn

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