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Mitochondrial DNA Deletion Associated with Endometriosis
Mitochondrial DNA Deletion Associated with Endometriosis
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机译:与子宫内膜异位症相关的线粒体DNA缺失
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摘要
Aberrant mitochondrial DNA (mtDNA) molecules with specific large deletions and associated with endometriosis are provided. Aberrant, or mutated, mtDNA may comprise a parent nucleic acid (ie a large sublimon), particularly when re-circulated, wherein adjacent nucleotides are fused upon said deletion to form a junction site. On the one hand, mtDNA can also contain deleted strands (ie small sublimones), especially when re-circulated, resulting in splicing sites. Also provided are fusion transcripts generated from such mutated mtDNA, and putative protein products thereof, wherein such transcripts and proteins are also associated with endometriosis. Hybridization probes and amplification primers and kits containing them are provided for the detection, diagnosis or monitoring of endometriosis.
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