Article
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis.
Human genetics - 1 Apr 1992
Lohmann D, Horsthemke B, Gillessen-Kaesbach G, Stefani F H, Höfler H
Abstract excerpt
Loss of function of both copies of the RB1 gene is a causal event in the development of retinoblastoma. The predisposition to this tumor can be inherited as an autosomal dominant trait. Direct detection of the genetic defect is important for presymptomatic DNA diagnosis and genetic counseling in families with hereditary retinoblastoma. We have used multiplex polymerase chain reaction and high-resolution...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Deletion
- Electrophoresis, Polyacrylamide Gel
- Eye Neoplasms
- Female
- Genes, Retinoblastoma
- Humans
- Male
- Molecular Sequence Data
- Mutation