Article
Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing.
Oncogene - 1 Jul 1992
Hogg A, Onadim Z, Baird P N, Cowell J K
Abstract excerpt
Several families segregating the autosomal dominant form of the hereditary retinoblastoma predisposition gene have been analysed for the causative mutation. We have used the single-strand conformation polymorphism (SSCP) technique to screen for mutations, exon by exon, in the RB1 gene in affected...
Topics
- Base Sequence
- DNA, Single-Stranded
- Exons
- Eye Neoplasms
- Genes, Retinoblastoma
- Genetic Carrier Screening
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Retinoblastoma