title: [Simplified detection of RB gene mutation by PCR-SSCP method in human osteosarcoma].
abstract: The genome of retinoblastoma (RB) plays an important role in the regulation of cell-cycle and cell proliferation. The mutation of RB gene is capable of developing RB and the RB gene probably functions as a tumor suppressor gene in a physiological condition. In order to define if the mutation of RB gene occurs in osteosarcoma (OS), the present worker examined one case with hereditary RB and seven with primary OS by using PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) method with different primers from sequences of genomic RB gene (exon 19, 20, and 21). The results of this study indicated that there were two cases of OS with wide deletion, and one with point mutations which were present in the area of exon 20. From these findings, it was concluded that the PCR-SSCP method was simple and useful for the detection of mutations of RB gene.
authors.affiliation: Department of Orthopaedic Surgery, St. Marianna University School of Medicine, Kanagawa, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Isomi
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D004247:DNA; D005091:Exons; D005260:Female; D016147:Genes, Tumor Suppressor; D016678:Genome; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D012516:Osteosarcoma / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012175:Retinoblastoma / Q000235:genetics*
chemical_list: D004247:DNA