Article
[Genetics and genetic counseling: the retinoblastoma case].
Bulletin du cancer - 1 Jan 1991
Turleau C, Blanquet V, de Grouchy J
Abstract excerpt
Forty-percent of retinoblastomas are due to a mutation inherited as an autosomal dominant trait with a high penetrance. Cytogenetic forms of retinoblastoma have led to the location of the gene, to the identification of numerous chromosome 13 specific DNA polymorphisms, and to the cloning of the gene. Intragenic DNA polymorphisms are now known. Using Southern blot hybridization, study of the mutation is possible...
Topics
- Alleles
- Blotting, Southern
- Chromosome Deletion
- Chromosomes, Human, Pair 13
- Female
- Genetic Counseling
- Humans
- Male
- Mutation
- Pedigree
- Polymorphism, Genetic
- Retinoblastoma