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CLIN CHEM：羊水胎儿基因组的全基因组测序和分析

2018-04-04 MedSci MedSci原创

羊水胎儿基因组
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羊膜穿刺术是一种常见的手术，其主要目的是从胎儿收集细胞对异常染色体、染色体拷贝数的改变、少量单基因至多基因缺陷进行测试，。在这里，研究人员展示了从羊水样品的细胞或游离DNA（cfDNA）对胎儿进行精确全基因组分析的可行性。 使用Complete Genomics nanoarray平台，对从31个羊膜组织中分离出的cfDNA和DNA进行测序，基因组覆盖率为50×。在一部分样品中，从分离自细胞

羊膜穿刺术是一种常见的手术，其主要目的是从胎儿收集细胞对异常染色体、染色体拷贝数的改变、少量单基因至多基因缺陷进行测试，。在这里，研究人员展示了从羊水样品的细胞或游离DNA（cfDNA）对胎儿进行精确全基因组分析的可行性。 使用Complete Genomics nanoarray平台，对从31个羊膜组织中分离出的cfDNA和DNA进行测序，基因组覆盖率为50×。在一部分样品中，从分离自细胞的DNA获取长片段文库，并测序至基因组覆盖率为约100×。 研究发现，两个DNA来源和父母文库之间变异调用的一致性> 96％。发现两个胎儿基因组在染色质解旋酶DNA结合蛋白8（潜在的有害变体CHD8）和LDL受体相关蛋白1（LRP1）存在潜在的有害变异，并与自闭症障碍毛发角化病萎缩性分别相关联。研究还发现了胎儿药物敏感性和一些其它各种疾病的信息。 研究表明对从羊水中获得31个胎儿的完整基因组序列进行分析证明细胞团中的cfDNA或DNA可以在质量差异很小的情况下进行分析。研究人员相信目前的技术能够以高度准确和完整的方式分析这些材料，并且应该考虑将这些分析加入当前的羊膜穿刺的流程中。 原始出处：

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    2018-11-24 陈吴1243

    #羊水#

    0

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    2018-04-24 海桐

    赞

    0

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    2018-04-06 zhaojie88

    #全基因组测序#

    0

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    2018-04-06 zhouqu_8

    #基因组测序#

    0

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    2018-04-06 ms1692810954239974

    #全基因组#

    0

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    2018-04-04 lietome2

    感谢小编为我们准备了如此丰盛的精神大餐.同时也向作者致谢!认真学习了.点赞!

    0

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    2018-04-04 神功盖世

    阅

    0

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