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 nucleotide...

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Hauptverfasser: MAGGRAH, Andrea, REGULY, Brian, HARBOTTLE, Andrew, CREED, Jennifer, USHER, Robert
Format: Patent
Sprache:eng ; fre ; ger
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Zusammenfassung: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.