title: Molecular analysis of alleles segregation at RFLPs within RB-1 gene in four families with hereditary retinoblastoma.
abstract: Four families with suspected hereditary retinoblastoma in proband and one other family member were examined by genetic segregation analysis of the RB-1 gene loci with specific RFLPs of chromosome 13. Two families, TA-6 and partially CK-46, were informative using this method. In TA-6 family healthy sister (TA-6/10) of the proband was shown not to be a carrier of the mutant RB-1 gene. These results show that the segregation analysis of RB-1 gene loci with specific RFLPs, used as the DNA markers, could be helpful in the genetic diagnosis and counselling in families with hereditary retinoblastoma.
authors.affiliation: Department of Medical Genetics, Polish-American Institute of Paediatrics, Kraków.
authors.forename: E
authors.initials: E
authors.lastname: Kostyk
authors.forename: J
authors.initials: J
authors.lastname: Wieckiewicz
authors.forename: A
authors.initials: A
authors.lastname: Sutkowska
authors.forename: H
authors.initials: H
authors.lastname: Zygulska-Mach
authors.forename: J J
authors.initials: JJ
authors.lastname: Pietrzyk
mesh_terms: D000483:Alleles; D002675:Child, Preschool; D005260:Female; D016161:Genes, Retinoblastoma; D015894:Genome, Human; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012175:Retinoblastoma / Q000235:genetics*