Cornell Research Foundation Inc.

Cornell University

Anna V Kukekova

Gregory M Acland

Orly Goldstein

Gustavo D Aguirre

Elaine Ostrander

Dayna Akey

Jennifer Lynn Johnson

Provided are methods for identifying dogs as likely to be genetically normal, carriers of, or affected with Oculo-skeletal dysplasia (OSD) by determining the presence or absence of a drd2 COL9A2 mutation and/or a drd1 COL9A3 mutation. Also provided is a method for selective breeding of dogs and kits useful for carrying out the methods of the invention.

Method for identifying oculoskeletal dysplasia in dogs

The invention relates to a method for identifying dogs which are genetically normal, heterozygous for, or homozygous for the mutation primarily responsible for Collie eye anomaly (CEA). The method comprises the steps of obtaining a biological sample from a dog and testing DNA in the biological sample for the presence or absence of a 7.8 kilobase deletion within chromosome 37 in which the CEA mutation is located. No deletion is indicative of a normal dog. A deletion on one allele of chromosome 37 is indicative of a dog that is heterozygous for the CEA mutation. A deletion in both alleles of chromosome 37 are indicative of a dog that is homozygous for the CEA mutation. Also provided is a kit for identifying a dog as normal, heterozygous for, or homozygous for the CEA mutation.

Diagnostic test for Collie Eye Anomaly

The invention relates to a method for identifying dogs which are genetically normal, heterozygous for, or homozygous for the mutation primarily responsible for Collie eye anomaly (CEA). The method comprises the steps of obtaining a biological sample from a dog and testing DNA in the biological sample for the presence or absence of a 7.8 kilobase deletion within chromosomein which the CEA mutation is located. No deletion is indicative of a normal dog. A deletion on one allele of chromosomeis indicative of a dog that is heterozygous for the CEA mutation. A deletion in both alleles of chromosomeare indicative of a dog that is homozygous for the CEA mutation. Also provided is a kit for identifying a dog as normal, heterozygous for, or homozygous for the CEA mutation.

Diagnostic test for collie eye anomaly

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Ithaca, NY, United States of America

Anna V Kukekova