title: Detection of mutations in argentine retinoblastoma patients by segregation of polymorphisms, exon analysis and cytogenetic test.
abstract: The aim of this study was to detect chromosomal and molecular abnormalities in 16 Argentine families with retinoblastoma (RB). Chromosomes were analyzed by G-banding, DNA from leukocytes and tumors was studied by segregation of polymorphisms within RB gene (RB1) and the DNA from chorionic villus by sequencing. The karyotype of an Rb236 bilateral patient with dismorphic signs revealed a deletion in 13q13-21. Polymorphism and exon analyses showed a deletion in the 3' end of RB1 in an Rb72 patient. The mutant RB1 allele, detected by loss of heterozygosity (LOH) in the tumor, was identified in 14 out of 18 tumors. The analysis of chorionic villus revealed a mutation, a C-to-T transition in exon 18. Molecular and cytogenetic analyses in families with RB offer valuable information on how to assess the risk of tumor development.
authors.affiliation: Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina.
authors.forename: V
authors.initials: V
authors.lastname: Dalamon
authors.forename: E
authors.initials: E
authors.lastname: Surace
authors.forename: D
authors.initials: D
authors.lastname: Borelina
authors.forename: M
authors.initials: M
authors.lastname: Ziembar
authors.forename: S
authors.initials: S
authors.lastname: Esperante
authors.forename: L
authors.initials: L
authors.lastname: Francipane
authors.forename: M
authors.initials: M
authors.lastname: Davila
authors.forename: D
authors.initials: D
authors.lastname: Parma
authors.forename: I
authors.initials: I
authors.lastname: Szijan
mesh_terms: D001118:Argentina / Q000453:epidemiology; D020090:Chromosome Segregation / Q000235:genetics*; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D019656:Loss of Heterozygosity; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D019572:Retinal Neoplasms / Q000208:ethnology / Q000235:genetics*; D012175:Retinoblastoma / Q000208:ethnology / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D016160:Retinoblastoma Protein