MITOCHONDRIAL DNA DELETIONS ASSOCIATED WITH ENDOMETRIOSIS

Aberrant mitochondrial DNA (mtDNA) molecules having specific large-scale deletions and having an association with endometriosis are provided. The aberrant, or mutated, mtDNA may comprise the parent nucleic acid (i.e. the large sublimon), particularly when re-circularized, wherein adjacent nucleotides are fused following the deletion to form a junction site. Alternatively, the mtDNA may comprise the deleted strand (i.e. the small sublimon), also particularly when re-circularized to create a junction site. In addition, fusion transcripts resulting from such mutated mtDNA, and their putative protein products, are provided, where such transcripts and proteins are also associated with endometriosis. Hybridization probes and amplification primers and kits containing same are provided for detecting, diagnosing, or monitoring endometriosis. 本发明提供了具有特定大规模缺失且与子宫内膜异位症相关的畸变的线粒体DNA(mtDNA)分子。畸变或突变的mtDNA可包括亲本核酸(即，大sblimon)，特别是当重新环化时，其中，在缺失后，相邻核苷酸融合以形成连接位点。替代地，mtDNA可以包括缺失的链(即，小sublimon)，特别是当重新环化时创建连接位点。此外，还提供了由这种突变mtDNA产生的融合