Article
Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.
Nature - 1 Jan 2000
Cavenee W K, Dryja T P, Phillips R A, Benedict W F, Godbout R, Gallie B L, Murphree A L, Strong L C, White R L
Abstract excerpt
Inheritance of a mutation at the Rb-1 locus, which has been mapped to band q14 of human chromosome 13, results in predisposition to retinoblastoma. Cloned DNA segments homologous to arbitrary loci of human chromosome 13 and which reveal polymorphic restriction endonuclease recognition sequences, have been used to look for somatic genetic events that might occur during tumorigenesis. A comparison of constitutional...
Topics
- Alleles
- Chromosomes, Human, 13-15
- Cloning, Molecular
- Gene Expression Regulation
- Genes, Recessive
- Homozygote
- Humans
- Mutation
- Pedigree
- Polymorphism, Genetic
- Retinoblastoma