Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.

ABSTRACT: In hereditary retinoblastoma, different epidemiological studies have indicated a preferential paternal transmission of mutant retinoblastoma alleles to offspring, suggesting the occurrence of a meiotic drive. To investigate this mechanism, we analyzed sperm samples from six individuals from five unrelated families affected with hereditary retinoblastoma. Single-sperm typing techniques were performed for each sample by study of two informative short tandem repeats located either in or close to the retinoblastoma gene (RB1). The segregation probability of mutant RB1 alleles in sperm samples was assessed by use of the SPERMSEG program, which includes experimental parameters, recombination fractions between the markers, and segregation parameters. A total of 2,952 single sperm from the six don

SUBMITTER: Girardet A 

PROVIDER: S-EPMC1288323 | biostudies-literature | 2000 Jan

REPOSITORIES: biostudies-literature