Cornell Research Foundation Inc.

Kunal Ray

Gustavo D Aguirre

Gregory M Acland

The present invention relates to an isolated nucleic acid molecule encoding canine RPE65. The present invention also relates to an isolated nucleic acid molecule encoding canine RPE65 having a mutation in one or both alleles indicative of a carrier of or a dog affected with congenital stationary night blindness. The present invention also relates to a method for identifying dogs which are genetically normal, are carriers of, or are affected with congenital stationary night blindness, said method including obtaining a biological sample from a dog and testing the biological sample for a gene encoding canine RPE65 having a nucleic acid mutation in one or both alleles indicative of a carrier of or a dog affected with congenital stationary night blindness. Another aspect of the present invention relates to a method for selecting dogs for breeding.

Identification of congenital stationary night blindness in dogs

The present invention relates to an isolated nucleic acid molecule encoding canine RPE65. The present invention also relates to an isolated nucleic acid molecule encoding canine RPE65 having a mutation in one or both alleles indicative of a carrier of or a dog affected with congenital stationary night blindness. The present invention also relates to a method for identifying dogs which are genetically normal are carriers of, or are affected with congenital stationary night blindness, said method including obtaining a biological sample from a dog and testing the biological sample for a gene encoding canine RPE65 having a nucleic acid mutation in one or both alleles indicative of a carrier of or a dog affected with congenital stationary night blindness. Another aspect of the present invention relates to a method for selecting dogs for breeding.

Provided are nucleic acid molecules which comprise at least a portion of a polymorphic genetic marker for determining whether a canine has a mutated progressive rod-cone degeneration disease (prcd) gene locus in one or both alleles. The genetic markers are located on canine chromosome 9 in a genomic region identified as the prcd-informative region. A method for making genetic markers representing polymorphic sequences located in the prcd-informative region of canine chromosome 9 comprises isolating a polymorphic DNA sequence in the prcd-informative region, using oligonucleotides complementary with at least a portion of the sequence to amplify the sequence, and analyzing canine chromosome 9 in a prcd-informative pedigree for the ability of the polymorphic sequence to co-segregate with the prcd gene locus by a linkage test. The presence of a mutated prcd gene locus in one or both alleles of a canine in a pedigree is detected by analyzing canine chromosome 9 in the canine for the presence of at least one polymorphic genetic marker, which co-segregates with the prcd gene locus, by a linkage analysis.

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Calcutta, India

Kunal Ray