Article
Parental origin of germ-line and somatic mutations in the retinoblastoma gene.
Human genetics - 1 Jul 1994
Kato M V, Ishizaki K, Shimizu T, Ejima Y, Tanooka H, Takayama J, Kaneko A, Toguchida J, Sasaki M S
Abstract excerpt
Segregation analysis of polymorphic sites within the retinoblastoma (RB) gene and on chromosome 13, as well as the parental origin of the lost allele in the tumor, were analyzed in 24 families with RB patients. Four mutant alleles transmitted through the germ-line and seven de novo germ-line mutant alleles were identified in 11 patients with hereditary RB. Segregation analysis within the RB gene and on chromosome...
Topics
- Alleles
- Chromosomes, Human, Pair 13
- Eye Neoplasms
- Female
- Gene Deletion
- Genes, Retinoblastoma
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Male
- Mutation