# US 9,752,195 B2 · TTC8 as prognostic gene for progressive retinal atrophy in dogs

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- Number: US 9,752,195 B2
- Document ID: US9752195B2
- Status: Granted
- Kind: B2
- Application number: 14/404,291
- Filed: 2013-05-24
- Published: 2015-05-28
- Granted: 2017-09-05
- Earliest claimed: 2012-05-28
- Assignees: Animal Health Trust
- Applicants: Animal Health Trust
- Inventors: Cathryn Suzanne Mellersh; Louise Mary Downs
- Web page: https://patentgrep.com/patent/US9752195B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- C12Q 2600/118: Prognosis of disease development
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES

## Abstract

The invention relates to the use of the TTC8 gene as a biomarker for the prognosis of a canine mammal developing progressive retinal atrophy. The invention also relates to in vitro methods of prognosing progressive retinal atrophy in a canine mammal by detecting a genetic variation within the TTC8 gene and to primers and prognostic kits for use in said method.

## Claims

### Claim 1

A method comprising:
assessing a canine mammal for the presence or absence of a single base deletion in TTC8 gene at position 63,129154 on chromosome 8 (CanFam 2.0) by obtaining a sample comprising a nucleic acid from the canine mammal and
detecting the presence or absence of the single base deletion by amplifying a part of the TTC8 gene using a forward primer comprising SEQ ID NO:1 and a reverse primer comprising SEQ ID NO:2,
wherein the canine mammal is a Golden Retriever.

### Claim 2 (depends on 1)

The method according to claim 1, wherein the nucleic acid is genomic DNA.

### Claim 3 (depends on 1)

The method according to claim 1, which further comprises the step of establishing whether or not the canine mammal is heterozygous or homozygous for the single base pair deletion within the TTC8 gene.

### Claim 4 (depends on 3)

The method according to claim 3, wherein if the canine mammal is heterozygous for the genetic variation within the TTC8 gene, it is selected as being suitable for breeding with a canine mammal of the same breed which is homozygous for the wild-type TTC8 gene.

### Claim 5 (depends on 3)

The method according to claim 3, wherein if the canine mammal is homozygous for the wild-type TTC8 gene, it is selected as being suitable for breeding with a canine mammal of the same breed which is homozygous or heterozygous for the wild-type TTC8 gene.

### Claim 6 (depends on 1)

The method according to claim 1, wherein the sample is assessed for one or more other markers which are linked or associated with canine disorders.

### Claim 7 (depends on 1)

has been amended to: The method according to claim 1, wherein the detecting further comprises determining the binding of oligonucleotide probes to the nucleic acid, wherein the probes comprise all or part of the wild-tpe or mutant TTC8 gene.