title: [Spectrum and frequencies of RB1 gene structural defects in retinoblastoma].
abstract: The spectrum and frequencies of RB1 structural defects were studied in tumors and peripheral blood lymphocytes of patients with various forms of retinoblastoma. Single strand conformation polymorphism (SSCP) and heteroduplex (HA) analyses, along with direct sequencing, revealed 47 mutations, including 24 new ones. Of these, 42.5% were nonsense mutations, 15% were missense mutations, 15% affected splicing sites, and 27.5% were frameshifts resulting from microdeletions or microinsertions. Six polymorphisms were found, including three new ones located in the coding region. Microsatellite analysis with markers Rbint2, Rbint20, D13S262, and D13S284 revealed a loss of heterozygosity for at least one marker in 71% tumors.
authors.affiliation: Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow, 115478 Russia.
authors.forename: O V
authors.initials: OV
authors.lastname: Babenko
authors.forename: S V
authors.initials: SV
authors.lastname: Saakian
authors.forename: A F
authors.initials: AF
authors.lastname: Brovkina
authors.forename: V M
authors.initials: VM
authors.lastname: Kozlova
authors.forename: V V
authors.initials: VV
authors.lastname: Strel'nikov
authors.forename: D V
authors.initials: DV
authors.lastname: Zaletaev
authors.forename: M V
authors.initials: MV
authors.lastname: Nemtsova
mesh_terms: D017398:Alternative Splicing; D004247:DNA / Q000097:blood; D004273:DNA, Neoplasm; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D019656:Loss of Heterozygosity; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D019572:Retinal Neoplasms / Q000235:genetics*; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D016160:Retinoblastoma Protein; D004247:DNA