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DNA测序技术是遗传基因组相关疾病研究的基础。合成测序是DNA二代测序技术中非常重要的一种。合成测序技术能够有效地实现大规模平行测序,大大提高测序通量的同时也降低成本,目前已得到广泛的应用。在合成测序中,首先需要合成荧光素标记的核苷酸,作为能够参与DNA链延伸的循环可逆终端。已有文献报道的可逆终端结构主要包括单位点修饰(MRT)和双位点修饰(DRT)两种类型。DRT类型可逆终端的最大优势是DNA聚合酶容易识别且合成路线简单,能够较好地应用于DNA合成测序。在此过程中可断裂连接单元将核苷酸和荧光素连接起来,它的性质直接决定了测序的效率、读长等关键指标。本文主要对目前用于DNA合成测序的可断裂连接单元研究现状进行介绍,并对其发展前景进行了展望。
DNA sequencing technology is the basis of genetic disease research. Synthetic sequencing is a very important type of DNA second-generation sequencing technology. Synthetic sequencing technology can effectively achieve large-scale parallel sequencing, greatly improve the sequencing throughput but also reduce costs, has been widely used. In synthetic sequencing, it is first necessary to synthesize fluorescein-labeled nucleotides as circulating reversible terminals that are capable of participating in the extension of the DNA strand. The reversible terminal structures reported in the literature mainly include two types of single-site modification (MRT) and double-site modification (DRT). The biggest advantage of the DRT-type reversible terminal is that DNA polymerase is easy to recognize and has a simple synthetic route and can be applied to DNA sequencing. In this process, the cleavable linker unit connects the nucleotide and the fluorescein, and its nature directly determines the key indexes such as the efficiency of sequencing and read length. In this paper, the research status of the currently available rupturable linker for DNA sequencing is introduced, and its development prospects are prospected.