Chd7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis

Abstract

The present invention includes compositions and methods for diagnosis of polymorphisms associated with susceptibility to idiopathic scoliosis in a patient by determining the presence of a mutation in a nucleic acid sample provided from the patient for a mutation in a transcription factor binding site in one or more non-coding regions of the chromodomain helicase DNA binding protein 7 gene.

1 - 13 . (canceled) 
   
   
       14 . A diagnostic kit for determining susceptibility to idiopathic scoliosis comprising in one or more containers one or more probes capable of binding to a SNP rs4738824 polymorphism, wherein the presence of the polymorphism indicates a predisposition to idiopathic scoliosis. 
   
   
       15 . (canceled) 
   
   
       16 . (canceled) 
   
   
       17 . (canceled) 
   
   
       18 . The diagnostic kit of  claim 14 , wherein the binding is detected by in situ hybridization, PCR, RT-PCR, fluorescence resonance energy transfer, chemiluminescence, enzymatic signal amplification, electron dense particles, magnetic particles, and capacitance coupling. 
   
   
       19 . The diagnostic kit of  claim 14 , wherein a sample is obtained and the DNA is amplified prior to visualization by direct staining, radiation, chemiluminescence, enzymatic deposition or fluorescence. 
   
   
       20 . The diagnostic kit of  claim 14 , wherein the probe is detectable by direct staining, radiation, chemiluminescence, enzymatic deposition or fluorescence. 
   
   
       21 . The diagnostic kit of  claim 14 , wherein the probe comprises a transcription factor protein that is detectable directly or indirectly and is specific for a wild-type sequence at the SNP rs4738824 polymorphism. 
   
   
       22 . The diagnostic kit of  claim 14 , wherein the probe comprises a transcription factor protein that is detectable directly or indirectly and is specific for wild-type sequence at the SNP rs4738824 polymorphism and a sample for probe detection has been previously amplified. 
   
   
       23 . The diagnostic kit of  claim 14 , wherein the probe is selected to allow the DNA to be sequenced to identify changes as compared to the wild type sequence. 
   
   
       24 . A diagnostic kit for identifying one or more mutations in the human the chromodomain helicase DNA binding protein 7 comprising: one or more containers comprises a pair of primers, wherein one of the primers within the pair is capable of hybridizing directly to, or adjacent to, a SNP rs4738824 polymorphism, wherein the presence of the polymorphism indicates a predisposition to idiopathic scoliosis. 
   
   
       25 . The kit of  claim 24 , wherein the primer pair is designed for amplification of genomic chromodomain helicase DNA binding protein 7. 
   
   
       26 . The kit of  claim 24 , wherein the primer pair is designed for amplification of genomic chromodomain helicase DNA binding protein 7 and the method of amplification is selected from the group consisting of polymerase chain reaction (PCR), strand displacement amplification (SDA), transcription mediated amplification (TMA), ligase chain reaction (LCR), nucleic acid sequence based amplification (NASBA), rolling circle amplification, and amplification of RNA by an RNA-directed RNA polymerase. 
   
   
       27 .- 33 . (canceled)