High Throughput Genotyping Technology

描述(由申请人提供)：需要价格低廉的高 用于分析大量单核苷酸的吞吐量平台 多态现象。在这个提案中，我们描述了一种技术的发展， 这将使超过10,000个SNPs能够在一个试管中进行分析，并且它的 转让给商业实体(ParAllele Genomcis Inc.)。技术 利用挂锁探头的专有特性，并利用 聚合酶和连接酶准确鉴定核苷酸多态。一个 分子标签设计在探针的主干上，以允许平行 检测到许多多态。通过这种方式， 多态可以被重新格式化成标签序列，然后进行扩增 使用通用的聚合酶链式反应引物。然后将扩增产物在 互补标签芯片。这项技术有望在 人口遗传学和大规模疾病关联研究与不同 其他可用的技术在每个SNP中使用的DNA样本数量非常少 已经检查过了。

DESCRIPTION (provided by applicant): There is a need for inexpensive high throughput platforms for analyzing large number of single nucleotide polymorphisms. In this proposal, we describe the development of a technique, which will enable more than 10,000 SNPs to be analyzed in a single tube and its transfer to a commercial entity (ParAllele Genomcis Inc.). The technology exploits the specificity of padlock probes, and employs the fidelity of polymerase and ligase to accurately identify the nucleotide polymorphism. A molecular tag is designed in the backbone of the probe to allow parallel detection of many polymorphisms. In this way, the information of the polymorphism can be reformatted into the tag sequence, which is then amplified using general PCR primer. The amplification product is then screened on a complementary tag chip. This technology is expected to have applications in population genetics and large-scale disease association studies and unlike other available technologies uses very low amount of DNA sample per SNP screened.