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Mitochondrial DNA Deletion Associated with Endometriosis

机译:与子宫内膜异位症相关的线粒体DNA缺失

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.
机译:提供了具有特异性大缺失和与子宫内膜异位症相关的异常线粒体DNA(MTDNA)分子。 异常或突变,MTDNA可包含亲本核酸(即大型宿毛),特别是在重新循环时,其中在所述缺失时融合相邻的核苷酸以形成结位点。 一方面,MTDNA还可以含有缺失的股线(即小升华),特别是在重新循环时,导致剪接位点。 还提供了由这种突变的MTDNA产生的融合转录物和其推定蛋白质产品,其中这些转录物和蛋白质也与子宫内膜异位症相关。 提供含有它们的杂交探针和扩增引物和套件用于检测,诊断或监测子宫内膜异位症。

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