Unbiased transmission of mutant alleles at the human retinoblastoma locus

✍ Scribed by Stephanie B. Seminara; Thaddeus P. Dryja

• Publisher: Springer
• Year: 1994
• Tongue: English
• Weight: 429 KB
• Volume: 93
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00201561

✦ Synopsis

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.