Methods for detecting a cyclophilin b snp associated with herda

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.

1 . A kit for detecting a SNP associated with HERDA comprising:
 (a) an isolated polynucleotide comprising position 115 of a polynucleotide encoding PPIB; and   (b) primers that specifically amplify the nucleic acid.   
     
     
         2 . The kit of  claim 1 , wherein the nucleic acid sequence comprises SEQ ID NOS:1, 2, 3 or a complement or subsequence thereof. 
     
     
         3 . The kit of  claim 1 , wherein the primers comprise the sequences set forth in SEQ ID NOS:4 and 5. 
     
     
         4 . The kit of  claim 1 , further comprising the restriction enzyme Ear I. 
     
     
         5 . An isolated polynucleotide comprising a sequence at least 95% identical to the sequence set forth in SEQ ID NO:2 or a complement thereof. 
     
     
         6 . A polypeptide encoded by the polynucleotide of  claim 5 . 
     
     
         7 . An expression vector comprising a polynucleotide of  claim 5 , operably linked to an expression control sequence. 
     
     
         8 . A host cell comprising an expression vector according to  claim 7 . 
     
     
         9 . The host cell of  claim 8 , wherein the cell is  E. coli.    
     
     
         10 . An isolated polynucleotide capable of distinguishing between the sequence provided in SEQ ID NO: 2, or a complement thereof and a nucleic acid encoding a wild type PPIB protein.