Chd7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis
AssigneeTexas Scottish Rite Hospital for Children
InventorCarol Wise
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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.
Claims15
1-13. (canceled)
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.
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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.
-33. (canceled)
Dependencies are inferred from the claim text.