Article
Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene.
Human genetics - 1 Jul 1992
Munier F, Spence M A, Pescia G, Balmer A, Gailloud C, Thonney F, van Melle G, Rutz H P
Abstract excerpt
Penetrance and segregation rates of mutant Rb-1 alleles were assessed in all 51 members of eight kindreds with hereditary retinoblastoma by concomitant ophthalmologic examination and determination of seven intragenic restriction fragment length polymorphisms (RFLPs). Penetrance was in the range reported in the literature except for one family in which it was only 42.8%. However, the odds of transmitting a mutant...
Topics
- Alleles
- Chi-Square Distribution
- Chromosome Aberrations
- DNA Mutational Analysis
- Fathers
- Female
- Gene Expression
- Genes, Retinoblastoma
- Heterozygote
- Humans
- Infant, Newborn