Multiplexed genotyping with sequence-tagged molecular inversion probes
Multiplexed genotyping with sequence-tagged molecular inversion probes
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DOI：
10.1038/nbt821
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发表时间：
2003-06-01
影响因子：
46.9
通讯作者：
Davis, RW
中科院分区：
文献类型：
--
作者：
Hardenbol, P;Banér, J;Davis, RW
我们报道了分子倒置探针(MIP)基因分型的发展，这是一种用于大规模单核苷酸多态(SNP)分析的有效技术。这项技术使用分子印迹聚合物产生反向序列，经过单分子重排，然后使用通用引物通过聚合酶链式反应进行扩增，并使用通用序列标签DNA微阵列进行分析，从而产生高度特异性的基因分型。有了这项技术，可以使用标准的实验室设备在一个试管中对1000多个探针进行多重分析。通过独立测序确定的基因类型具有高呼叫率(95%)和高准确率(>；99%)。
We report on the development of molecular inversion probe (MIP) genotyping, an efficient technology for large-scale single nucleotide polymorphism (SNP) analysis. This technique uses MIPs to produce inverted sequences, which undergo a unimolecular rearrangement and are then amplified by PCR using common primers and analyzed using universal sequence tag DNA microarrays, resulting in highly specific genotyping. With this technology, multiplex analysis of more than 1,000 probes in a single tube can be done using standard laboratory equipment. Genotypes are generated with a high call rate (95%) and high accuracy (>99%) as determined by independent sequencing.