Diagnostic test for skeletal atavism in horses

Abstract

The present invention relates to methods for detecting a genetic deletion at the SHOX locus of a horse, where the presence of such a genetic deletion indicates that the horse is a carrier of disease-causing mutation that can lead to skeletal atavism. The invention further provides nucleic acid primers and probes for use in methods for detecting the presence or absence of disease-causing genetic deletion at the SHOX locus of a horse.

1 . A method for determining if a horse is a carrier of a mutation that can lead to skeletal atavism, said method comprising the steps,
 (i) extracting DNA from a biological sample obtained from a horse,   (ii) determining in said DNA the presence of a genetic deletion at the SHOX locus,   
       wherein the presence of said genetic deletion indicates that the horse is a carrier of a mutation that can lead to skeletal atavism. 
     
     
         2 . The method according to  claim 1 , wherein the genetic deletion is the D1 deletion comprising the DNA sequences SEQ ID NOs: 10 to 117. 
     
     
         3 . The method according to  claim 1 , wherein the genetic deletion is the D2 deletion comprising the DNA sequences SEQ ID NOs: 10 to 58, 91 to 95, 97 to 110, and 115 to 117. 
     
     
         4 . A method for detecting a disease-causing genetic deletion at the SHOX locus of a horse, where the presence of such a genetic deletion indicates that the horse is a carrier of a mutation that can lead to skeletal atavism. 
     
     
         5 . The method according to  claim 4 , wherein said genetic deletion is the D1 deletion comprising the DNA sequences SEQ ID NOs: 10 to 117. 
     
     
         6 . The method according to  claim 5 , comprising detecting the absence or presence of a nucleic acid sequence in the genome of a horse, said nucleic acid sequence being a part of the D1 deletion. 
     
     
         7 . The method according to  claim 6 , wherein the nucleic acid to be detected can be selected from the nucleic acid sequences SEQ ID NOs: 10 to 117. 
     
     
         8 . The method according to  claim 6 , wherein presence of one copy only of said nucleic acid in the genome of said horse, being indicative of said horse being heterozygous for the D1 deletion, and hence a carrier of a disease-causing mutation that can lead to skeletal atavism. 
     
     
         9 . The method according to  claim 6 , wherein the absence of said nucleic acid in the genome of said horse, being indicative of said horse being homozygous for the D1 deletion, and hence a carrier of a disease causing mutation that can lead to skeletal atavism. 
     
     
         10 . The method according to  claim 4 , wherein said genetic deletion is the D2 deletion comprising the DNA sequences SEQ ID NOs: 10 to 58, 91 to 95, 97 to 110, and 115 to 117. 
     
     
         11 . The method according to  claim 10 , comprising detecting the absence or presence of a nucleic acid sequence in the genome of a horse, said nucleic acid sequence being a part the D2 deletion. 
     
     
         12 . The method according to  claim 11 , wherein the nucleic acid to be detected can be selected from the nucleic acid sequences SEQ ID NOs: 10 to 58, 91 to 95, 97 to 110, and 115 to 117. 
     
     
         13 . The method according to  claim 11 , wherein presence of one copy only of said nucleic acid in the genome of said horse, being indicative of said horse being heterozygous for the D2 deletion, and hence a carrier of a disease-causing mutation that can lead to skeletal atavism. 
     
     
         14 . The method according to  claim 11 , wherein the absence of said nucleic acid in the genome of said horse, being indicative of said horse being homozygous for the D2 deletion, and hence a carrier of a disease-causing mutation that can lead to skeletal atavism. 
     
     
         15 . The method according to any of  claim 1 , comprising the amplification of a nucleic acid segment by means of the polymerase chain reaction (PCR). 
     
     
         16 . The method according to  claim 15 , comprising the use of a primer or a primer pair hybridizing under stringent conditions to a nucleic acid sequence present in or flanking the deleted region D1, or to the complementary strand thereof. 
     
     
         17 . The method according to  claim 16 , wherein the primer or primer pair hybridizes under stringent conditions to any of the sequences SEQ ID NOs: 10 to 117, or to the complementary strand thereof. 
     
     
         18 . A nucleic acid primer, primer pair, or probe hybridizing under stringent conditions to a nucleic acid sequence present in or flanking the deleted region D1, or to the complementary strand thereof. 
     
     
         19 . A nucleic acid primer, primer pair, or probe according to  claim 18 , which hybridizes under stringent conditions to any of the sequences SEQ ID NOs: 10 to 117, or to the complementary strand thereof.