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Journal of Heredity Advance Access originally published online on August 31, 2005
Journal of Heredity 2005 96(5):475-484; doi:10.1093/jhered/esi092
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© The American Genetic Association. 2005. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org.

Evaluation of Candidate Genes in the Absence of Positional Information: A Poor Bet on a Blind Dog!

J. Aguirre-Hernández, and D. R. Sargan

From the Centre for Veterinary Science, University of Cambridge, Cambridge CB3 0ES, UK (Aguirre-Hernández and Sargan), and Hospital Infantil de México ‘Federico Gómez’, Dr. Márquez 162, México, D.F. 06720, México (Aguirre-Hernández)

Address correspondence to J. Aguirre-Hernández, Centre for Veterinary Science, University of Cambridge, Cambridge CB3 0ES, UK, or e-mail: ja248{at}cam.ac.uk.

More than 350 inherited diseases have been reported in dogs and at least 50% of them have human counterparts. To remove the diseases from dog breeds and to identify canine models for human diseases, it is necessary to find the mutations underlying them. To this end, two methods have been used: the functional candidate gene approach and linkage analysis. Here we present an evaluation of these in canine retinal diseases, which have been the subject of a large number of molecular genetic studies, and we show the contrasting outcomes of these approaches when dealing with genetically heterogeneous diseases. The candidate gene approach has led to 377 published results with 23 genes. Most of the results (66.6%) excluded the presence of a mutation in a gene or its coding region, while only 3.4% of the results identified the mutation causing the disease. On the other hand, five linkage analysis studies have been done on retinal diseases, resulting in three identified mutations and two mapped disease loci. Mapping studies have relied on dog research colonies. If this favorable application of linkage analysis can be extended to dogs in the pet population, success in identifying canine mutations could increase, with advantages to veterinary and human medicine.


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