与印度妇女复发性流产相关的线粒体 DNA 变异。
Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women.
机构信息
Centre for Cellular and Molecular Biology (CSIR), Hyderabad, India.
出版信息
Mitochondrion. 2011 May;11(3):450-6. doi: 10.1016/j.mito.2011.01.002. Epub 2011 Feb 1.
Several genetic factors have been found to be associated with recurrent pregnancy loss (RPL). However, not many attempts have been made to associate the mitochondrial DNA (mtDNA) variations with RPL. Therefore, we have analyzed the complete mtDNA of 100 women with RPL and 12 aborted fetal tissues. Our analysis revealed a total of 681 variations, most of which were in NADH Dehydrogenase (ND) genes that encode mitochondrial enzyme Complex I. Presence of T4216C variation (ND1 gene) in 9% of the RPL women and several pathogenic, and novel mutations suggest the role of mtDNA variations in RPL.
已经发现一些遗传因素与复发性妊娠丢失（RPL）有关。然而，很少有人尝试将线粒体 DNA（mtDNA）变异与 RPL 联系起来。因此，我们分析了 100 名 RPL 妇女和 12 个流产胎儿组织的完整 mtDNA。我们的分析总共发现了 681 种变异，其中大部分存在于编码线粒体酶复合物 I 的 NADH 脱氢酶（ND）基因中。9%的 RPL 妇女存在 T4216C 变异（ND1 基因），以及一些致病性和新的突变，提示 mtDNA 变异在 RPL 中的作用。
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