# US 7,608,400 B2 · Methods for detecting a cyclophilin B SNP associated with HERDA

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- Number: US 7,608,400 B2
- Document ID: US7608400B2
- Status: Granted
- Kind: B2
- Application number: 11/787,611
- Filed: 2007-04-16
- Published: 2009-01-01
- Granted: 2009-10-27
- Earliest claimed: 2006-09-18
- Assignees: The Regents of the University of California
- Inventors: Danika Bannasch; Robert Tryon; Stephen White
- Web page: https://patentgrep.com/patent/US7608400B2

## CPC

- C12N 9/90: Isomerases (5.)
- C12Q 1/6883: for diseases caused by alterations of genetic material
- C12Y 502/01008: Peptidylprolyl isomerase (5.2.1.8), i.e. cyclophilin
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/16: Primer sets for multiplex assays
- C12Q 2600/172: Haplotypes
- C12N: MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (microbiological testing media C12Q1/00)
- 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
- C12Y: ENZYMES

## Abstract

This invention provides compositions and methods for identification of carriers of Hereditary Equine Regional Dermal Asthenia (HERDA) in equine species. In particular, this invention identifies a single nucleotide polymorphorism (SNP) in cyclophlin B that can be used to identify carriers of HERDA and individuals affected by HERDA.

## Claims

### Claim 1

A method for detecting a single nucleotide polymorphism (SNP) associated with hereditary equine regional dermal asthenia (HERDA) phenotype in an equine, the method comprising:
isolating from the equine a DNA molecule comprising a cyclophilin B (PPIB) sequence at least 95% identical to SEQ ID NO: 1 or an mRNA molecule transcribed from the PPIB sequence; and
detecting a G to A substitution at position 115 counted from the start codon of the PPIB sequence;
wherein the presence of a single copy of G to A substitution at position 115 of the PPIB sequence indicates that the equine is carrier for the SNP associated with HERDA and the presence of two copies of a G to A substitution at position 115 indicates that the animal is affected with HERDA.

### Claim 2 (depends on 1)

The method of claim 1, wherein said equine is a domesticated equine.

### Claim 3 (depends on 1)

The method of claim 1, wherein the G to A substitution is detected by
a) specifically amplifying a nucleic acid sequence comprising position 115 of the PPIB sequence, thereby amplifying nucleic acids comprising the SNP associated with HERDA; and
b) detecting the amplified nucleic acids, thereby detecting the SNP associated with HERDA.

### Claim 4 (depends on 3)

The method of claim 3, wherein the nucleic acid sequence is specifically amplified using primers comprising the sequences set forth in SEQ ID NOS: 4 and 5.

### Claim 5 (depends on 3)

The method of claim 3, wherein the SNP is detected by sequencing the amplified nucleic acids.

### Claim 6 (depends on 3)

The method of claim 3, wherein the SNP is detected by contacting the amplified nucleic acids with EarI.

### Claim 7 (depends on 3)

The method of claim 3, wherein the step of specifically amplifying the nucleic acid sequence is carried out using reverse transcription and amplification of the mRNA molecule.