An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom

J. K. Cowell, M. Jay, P. Rutland, J. Hungerford

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

Fifty retinoblastoma families have been studied. In 41 it has been possible to determine the esterase-D phenotypes in all family members. Seven families were informative for the enzyme polymorphism and in all cases cosegregation of the retinoblastoma gene and esterase-D alleles was demonstrated, giving a lod score of 2.61. When combined with other published reports the cumulative lod score is 13.69 with no recombination in 45 meioses. In 10–15% of retinoblastoma families therefore, it is possible to offer prenatal diagnosis using the ESD protein polymorphism. The application of this test to the retinoblastoma population in the UK is limited by the low frequency of the rarer allele (0.116) and, as a result of genetic counselling, the smaller families generally associated with retinoblastoma.

Original languageEnglish (US)
Pages (from-to)661-664
Number of pages4
JournalBritish Journal of Cancer
Volume55
Issue number6
DOIs
StatePublished - Jun 1987
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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