title: Unbiased transmission of mutant alleles at the human retinoblastoma locus.
abstract: The preferential transmission of the mutant allele to offspring from fathers who carry a germline mutation in the retinoblastoma gene was examined by analyzing 46 consecutive pedigrees. Among 75 offspring from 29 fathers, the ratio of carriers to noncarriers was 49%. Among the 106 offspring from 55 mothers the ratio was 57%. Neither ratio differs statistically from the expected 50%. When the analysis was limited to only those families with low-penetrance retinoblastoma, we still did not observe a biased transmission of alleles from fathers, although mothers did have an excess of carrier offspring of borderline statistical significance (the P-value was approximately 0.03). While we cannot rule out a biased transmission of alleles from some parents, there appears to be no such bias overall.
authors.affiliation: Harvard Medical School, Boston, MA.
authors.forename: S B
authors.initials: SB
authors.lastname: Seminara
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D000483:Alleles; D005260:Female; D016161:Genes, Retinoblastoma; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree