Altered type ix collagen gene sequences associated with intervertebral disc disease

摘要

The invention relates to compositions, kits, and methods for detecting polymorphic alleles of the human genes encoding the alpha 2 and alpha 3 chains of type IX collagen (i.e. the COL9A2 and COL9A3 genes). The invention also includes compositions, kits, and methods for assessing whether a subject is afflicted with, or is predisposed to become afflicted with a disorder associated with the presence in the subject of an aberrant COL9A2 and COL9A3 gene, such as a COL9A2 or COL9A3 allele that encodes a collagen protein chain having a tryptophan residue substituted in place of a residue that is normally arginine or glutamine. The invention also includes methods of treating subjects afflicted with such disorders.