title: [Prediction of retinoblastoma: linkage analysis of families with hereditary retinoblastoma by using polymorphic sites within the Rb gene].
abstract: Retinoblastoma (Rb) is one of the most common intraocular tumors in childhood. 40% of the cases are hereditary in nature. 10% are due to the transmission of a germline mutation from an affected parent, and 30% are due to new germ cell mutation. In the hereditary form, the mutation is inherited via a germ cell; therefore, the mutant gene is present in all somatic cells. The segregations of four polymorphic sites within the Rb gene were analyzed in six families with hereditary retinoblastoma. Two families were informed with probe p123M1.8, three were informed with probe p68RS2.0 and one was informed with PCR amplification of XbaI site; all six families were informed with PCR amplification of intragenic VNTR site RB1.20. Our results showed that linkage analysis of families with hereditary retinoblastoma by using intrageneic polymorphic sites could be applied to detect carriers and for prenatal diagnosis in families with hereditary retinoblastoma.
authors.affiliation: Institute of Basic Medical Sciences, CAMS and PUMC, Beijing.
authors.forename: L
authors.initials: L
authors.lastname: Yuan
authors.forename: Y
authors.initials: Y
authors.lastname: Gao
authors.forename: S
authors.initials: S
authors.lastname: Lo
authors.forename: B
authors.initials: B
authors.lastname: Fang
authors.forename: J
authors.initials: J
authors.lastname: Ye
mesh_terms: D001483:Base Sequence; D004273:DNA, Neoplasm / Q000235:genetics; D005134:Eye Neoplasms / Q000235:genetics*; D017353:Gene Deletion; D016161:Genes, Retinoblastoma; D006580:Genetic Carrier Screening; D006801:Humans; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012175:Retinoblastoma / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm