title: [Molecular diagnosis of retinoblastoma. First experience in Russia].
abstract: The first experience with molecular diagnosis of retinoblastoma (RB) in Russia is presented. A protocol based on the use of up-to-date molecular diagnostic methods helps detect structural and functional abnormalities in RB1 gene, diagnose RB in disputable cases and at early stages of the disease. Forty-five families with various forms of RB were examined. Twenty-three mutations in various sites of RB1 gene were characterized. Abnormal methylation in the promotor area of RB1 gene was detected in 20% cases and loss of heterozysity by intragene microsatellite markers was detected in 70% cases. Hence, the causes of RB were detected in 80% families, which led to early diagnosis in close relatives of patients and helped evaluate the repeated risk of the tumor in families of patients with RB.
authors.forename: O V
authors.initials: OV
authors.lastname: Babenko
authors.forename: A F
authors.initials: AF
authors.lastname: Brovkina
authors.forename: D V
authors.initials: DV
authors.lastname: Zaletaev
authors.forename: V M
authors.initials: VM
authors.lastname: Kozlova
authors.forename: S V
authors.initials: SV
authors.lastname: Saakian
authors.forename: M V
authors.initials: MV
authors.lastname: Nemtsova
mesh_terms: D019175:DNA Methylation; D016161:Genes, Retinoblastoma; D005819:Genetic Markers; D006801:Humans; D019656:Loss of Heterozygosity; D009154:Mutation; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D012175:Retinoblastoma / Q000175:diagnosis* / Q000235:genetics; D012426:Russia
chemical_list: D005819:Genetic Markers