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首页> 外文期刊>Genomics >Rapid detection of DNA sequence variants by conformation-sensitive capillary electrophoresis.
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Rapid detection of DNA sequence variants by conformation-sensitive capillary electrophoresis.

机译：通过构象敏感性毛细管电泳快速检测DNA序列变体。

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摘要

The identification of novel sequence variants, which may be either disease-causing mutations or silent polymorphisms, in large numbers of samples is becoming the rate-limiting step in associating diseases with specific genes. This is particularly true in light of the imminent arrival of the complete reference sequence of the human genome. A number of techniques have been developed to analyze DNA samples for sequence variants rapidly. We describe a new technique, capillary-based conformation-sensitive gel electrophoresis (capillary CSGE) that transfers mutation detection from acrylamide gel to capillary electrophoresis. Capillary CSGE was able to detect 7/7 short insertion/deletions and 16/22 base substitutions in a series of random single-nucleotide polymorphisms and known variants in the lipoprotein lipase and BRCA2 genes. This technique has the potential to screen many megabases of DNA in a single day. Copyright 2000 Academic Press.
机译：在大量样品中鉴定可能是致病突变或沉默多态性的新型序列变体正在成为将疾病与特定基因相关联的限速步骤。鉴于人类基因组的完整参考序列即将到来，这尤其如此。已经开发出许多技术来快速分析DNA样品的序列变异。我们描述了一种新技术，即基于毛细管的构象敏感性凝胶电泳（毛细管CSGE），它将突变检测从丙烯酰胺凝胶转移到毛细管电泳。毛细管CSGE能够检测一系列随机单核苷酸多态性以及脂蛋白脂肪酶和BRCA2基因的已知变体中的7/7个短插入/缺失和16/22个碱基取代。这项技术有可能在一天内筛选出许多兆碱基的DNA。版权所有2000学术出版社。

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