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September 1985

Accuracy of Detection of the Retinoblastoma Gene by Esterase D Linkage

Author Affiliations

From the Department of Obstetrics/Gynecology and Pediatrics, the Division of Human Genetics, University of Maryland School of Medicine, Baltimore (Ms Halloran and Dr Boughman); the Department of Ophthalmology, Harvard University Medical School, Massachusetts Eye and Ear Infirmary, Boston (Drs Dryja and Mukai); and the Children's Department and the Department of Human Genetics, The Royal Victoria Infirmary, Newcastle-Upon-Tyne, England (Mr Long and Drs Roberts and Craft).

Arch Ophthalmol. 1985;103(9):1329-1331. doi:10.1001/archopht.1985.01050090081036

• 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.

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