Cornell Research Foundation Inc.

Cornell University

Orly Goldstein

Gregory M Acland

Gustavo D Aguirre

Barbara Zangerl

Susan Pearce-Kelling

Jeanette S Felix

Duska J Sidjanin

Anna V Kukekova

Elaine Ostrander

Dayna Akey

Jennifer Lynn Johnson

Tools and methods are provided for determining whether or not a dog is genetically normal, is a carrier of, or is affected with or predisposed to progressive rod-cone degeneration. The method is based on the detection of a transversion from G to A at position corresponding to nucleotide position 1298 of SEQ ID NO: 1.

Identification of the gene and mutation responsible for progressive rod-cone degeneration in dog and a method for testing same

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

Provided is a method for identifying dogs as likely to be genetically normal, carriers of, or affected with progressive rod-cone degeneration comprising analyzing nucleic acids from a dog and determining the presence or absence of one or more prcd polymorphisms in the nucleic acids. Representative prcd polymorphisms characteristic of a prcd haplotype are also provided.

Method for identifying progressive rod-cone degeneration 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.

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Ithaca, NY, United States of America

Orly Goldstein