Accuracy of Detection of the Retinoblastoma Gene by Esterase D Linkage

Susan L. Halloran, Joann A. Boughman, Thaddeus P. Dryja, Shizuo Mukai, David Long, Derek F. Roberts, Alan W. Craft

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

The gene for hereditary retinoblastoma (Rb), an autosomal dominant trait localized to the long arm of chromosome 13, is linked to the locus for the enzyme esterase D (EsD). We analyzed a three-generation family that demonstrates cosegregation of alleles at the EsD locus and the Rb locus. This kindred yields a logarithm of the odds ratio (LOD) score of 2.46 at a recombination fraction (θ) of 0.0. When combined with five other recently reported families, the resulting maximum score was 11.08 at θ = 0.0. This combined LOD score and the lack of demonstrable crossovers in more than 65 individuals indicate that predictions of the Rb gene carrier state based on EsD genotyping are at least 90% accurate.

Original languageEnglish (US)
Pages (from-to)1329-1331
Number of pages3
JournalArchives of ophthalmology
Volume103
Issue number9
DOIs
StatePublished - Sep 1985
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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