title: A constitutional mutation within the retinoblastoma gene detected by PFGE.
abstract: Retinoblastoma may be caused by constitutional mutations in the retinoblastoma gene which segregates as an autosomal dominant inherited predisposition for developing retinoblastoma tumours. Since 75% of these cases are new mutations, there is a need for methods to identify carriers of such germ-line mutations, so that informed genetic counselling is available to patients and close relatives. We have used pulsed-field gel electrophoresis in screening 20 unrelated cases with bilateral retinoblastoma. One constitutional mutation could be detected, and was found to be caused by a balanced chromosome (4;13) translocation with the breakpoint within intron 17 of the retinoblastoma gene.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Janson
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
mesh_terms: D002882:Chromosomes, Human, Pair 13; D002894:Chromosomes, Human, Pair 4; D004262:DNA Restriction Enzymes; D016521:Electrophoresis, Gel, Pulsed-Field; D016161:Genes, Retinoblastoma / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D009154:Mutation; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D005819:Genetic Markers; D004262:DNA Restriction Enzymes