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Accuracy of detection of the retinoblastoma gene by esterase D linkage

Lookup NU author(s): Emeritus Professor Alan Craft

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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 (0) of 0.0. When combined with five other recently reported families, the resulting maximum score was 11.08 at 0 = 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.

Publication metadata

Author(s): Halloran, S. L., Boughman, J. A., Dryja, T. P., Mukai, S., Long, D., Roberts, D. F., Craft, A. W.

Publication type: Article

Publication status: Published

Journal: Archives of Ophthalmology

Year: 1985

Volume: 103

Issue: 9

Pages: 1329-1331

Print publication date: 01/09/1985

ISSN (print): 0003-9950

ISSN (electronic): 1538-3601

PubMed id: 3862370

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