在反复妊娠丢失中，没有线粒体 DNA 缺失，但有更多 D-环点突变。
No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss.
机构信息
National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
出版信息
J Assist Reprod Genet. 2010 Nov;27(11):641-8. doi: 10.1007/s10815-010-9435-2. Epub 2010 May 25.
Abstract
PURPOSE
repeated pregnancy loss (RPL) occurs in 1 out of 300 couples, and the cause of about 50% of them remains idiopathic. Mitochondria have an important role in human development through ATP production and their involvement in apoptosis.
METHODS
96 RPL and 96 control females were used to investigate the frequency of deletions and point mutations in the displacement loop (D-loop) on mitochondria. Multiplex PCR and DNA sequencing methods were used to detect possible variations in the mitochondrial DNA (mtDNA).
RESULTS
no deletions but a high frequency of point mutations were found in RPL females; among 129 variations observed in RPL, 22 mutations were significant (P < 0.05) and the insertion of C in nucleotide 114 was novel.
CONCLUSION
high rate of mutations in D-loop of mtDNA was observed in maternal blood, a fact that may have a direct or indirect role in inducing RPL. The results can be used in the assessment of RPL and designing possible treatments for improving assisted reproduction.
摘要
目的
反复妊娠丢失（RPL）发生在每 300 对夫妇中的 1 对，约 50%的原因仍然是特发性的。线粒体通过 ATP 产生和参与细胞凋亡在人类发育中起着重要作用。
方法
使用 96 例 RPL 和 96 例对照女性来研究线粒体置换环（D-loop）上缺失和点突变的频率。采用多重 PCR 和 DNA 测序方法检测线粒体 DNA（mtDNA）中可能存在的变异。
结果
在 RPL 女性中未发现缺失，但发现点突变频率很高；在观察到的 129 种变异中，有 22 种突变具有显著性（P < 0.05），核苷酸 114 处的 C 插入是新的。
结论
在母体血液中观察到 mtDNA D-loop 中的突变率很高，这一事实可能直接或间接导致 RPL。这些结果可用于 RPL 的评估和设计可能的治疗方法以改善辅助生殖。
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