Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene
Details
Serval ID
serval:BIB_69A673A5287C
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene
Journal
Human Genetics
ISSN
0340-6717 (Print)
Publication state
Published
Issued date
07/1992
Volume
89
Number
5
Pages
508-12
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jul
Research Support, Non-U.S. Gov't --- Old month value: Jul
Abstract
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 Rb-1 allele from one generation to the next were 25:9 in this population, much above the Mendelian 1:1 ratio (P less than 0.025). This preferential transmission was discovered through the use of molecular information. Further analysis revealed that this distortion was due to preferential inheritance among children of male carriers (18:4, P less than 0.005). No difference from a 1:1 segregation ratio could be detected among the children of female carriers (7:5). These findings were consistent with a review of relevant data in the literature.
Keywords
Alleles
Chi-Square Distribution
Chromosome Aberrations
DNA Mutational Analysis
Fathers
Female
Gene Expression
*Genes, Retinoblastoma
Heterozygote
Humans
Infant, Newborn
Male
Pedigree
Recombination, Genetic
Retinoblastoma/*genetics
Pubmed
Web of science
Create date
28/01/2008 13:54
Last modification date
20/08/2019 15:24