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RB1 and CDKN2A Functional Defects Resulting in Retinoblastoma

✍ Scribed by O. V. Babenko; V. V. Zemlyakova; S. V. Saakyan; A. F. Brovkina; V. V. Strelnikov; D. V. Zaletaev; M. V. Nemtsova

Book ID: 110397533
Publisher: SP MAIK Nauka/Interperiodica
Year: 2002
Tongue: English
Weight: 48 KB
Volume: 36
Category: Article
ISSN: 0026-8933
DOI: 10.1023/a:1020607010296

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The retinoblastoma susceptibility (RB1) gene contains an unmethylated CpG-rich island at its 5' end. Using methylation-sensitive restriction enzymes, we have investigated the methylation status of this island in 21 sporadic unilateral retinoblastomas and 30 hereditary retinoblastomas. Three sporadic

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We have analyzed the 27 exons and the promoter region of the RBI 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