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PMID: 8304343 Published · ppublish English Journal Article

The genetics of retinoblastoma, revisited.

American journal of human genetics ·Vol. 54 ·No. 2 ·1994-02-00 ·Pages 264-73

Naumova A, Sapienza C

Abstract

Our epidemiological and genetic analyses of sporadic and familial retinoblastoma indicate that an X-chromosome-linked gene is involved in the genesis of a significant fraction of new bilateral cases of the disease. The activity of this gene results in sex-ratio distortion in favor of males among patients with bilateral sporadic disease. Among the offspring of these males, both sex-ratio distortion in favor of males and transmission-ratio distortion in favor of affecteds are observed. We propose that these phenomena are due to the inability of these males to erase the genome imprint established on the half of the genome inherited from their mothers.

MeSH Terms
Female Genes, Retinoblastoma Genetic Linkage Humans Male Pedigree Retinoblastoma/genetics Sex Characteristics X Chromosome
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Naumova A
Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla.
Sapienza C
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1994-02-00
Pages
264-73
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1918175
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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