Article
Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing.
Human molecular genetics - 1 Jul 1993
Blanquet V, Turleau C, Gross M S, Goossens M, Besmond C
Abstract excerpt
Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma. The majority of these mutations occur de novo and differ from one patient to another. Cytogenetics and Southern blotting were shown to detect less than 15% of constitutional rearrangements. In this study we use...
Topics
- Base Sequence
- Consensus Sequence
- DNA
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Frameshift Mutation
- Genes, Retinoblastoma
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Denaturation
- Point Mutation
- Polymerase Chain Reaction
- Repetitive Sequences, Nucleic Acid
- Retinoblastoma
- Sequence Deletion