DIAGNOSTIC TEST FOR COLLIE EYE ANOMALY

• US 20090176225A1
• Filed: 09/22/2008
• Published: 07/09/2009
• Est. Priority Date: 10/20/2004
• Status: Active Grant

• Current Assignee: Anna V. Kukekova, Dayna Akey, Elaine Ostrander, Gregory M. Acland, Gustavo D. Aguirre, Orly Goldstein
• Original Assignee: Anna V. Kukekova, Dayna Akey, Elaine Ostrander, Gregory M. Acland, Gustavo D. Aguirre, Orly Goldstein
• Inventors: Ostrander, Elaine, Acland, Gregory M., Aguirre, Gustavo D., Goldstein, Orly, Akey, Dayna, Kukekova, Anna V.
• Granted Patent: US 7,723,507 B2
• Time in Patent Office: Days
• US Class Current: 435/6
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 1/6888 for detection or identification of organisms
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers
• CPC Class Codes: C12Q 2600/16 Primer sets for multiplex assays

Abstract

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.

Claims

1. A kit for identifying a dog as normal, heterozygous for, or homozygous for a Collie Eye Anomaly mutation in a region of chromosome 37, wherein the mutation is a deletion of nucleotides corresponding to position 9,302 to position 17,101 of SEQ ID NO:

1, comprising;

a set of primers comprising a first primer, a second primer, a third primer and a fourth primer, wherein the first primer binds to a sequence upstream of position 9,301 of SEQ ID NO;

1, the fourth primer binds to a sequence downstream of position 17,102 of SEQ ID NO;

1 and second and third primers binds to a sequence between nucleotides 9,302 and 17,101 of SEQ ID NO;

1, wherein amplification of a normal allele with the first and the second primers produces a first amplification product spanning the start breakpoint of the deletion, amplification of a normal allele using the third and fourth primers produces a second amplification product spanning the end breakpoint of the deletion, and amplification using the first and the fourth primer produces a third amplification product only for an allele having the deletion.

2. The kit of claim 16, wherein the first primer has the sequence of SEQ ID NO:

2, the second primer has the sequence of SEQ ID NO;

4, the third primer has the sequence of SEQ ID NO;

6 and the fourth primer has the sequence of SEQ ID NO;

8.