Sequenom MassARRAY High Throughput System

描述(由申请人提供)：能够准确和 廉价的单核苷酸多态基因(SNPs)是目前 限制了许多大规模的联合和基因发现项目。这个 需要克服的主要障碍是成本。这项共享工具拨款建议 购买一种新的商业仪器，能够以20倍的价格对SNPs进行基因分型 降低成本，同时保持执行高 吞吐量。该技术是基于引物延伸和检测 MALDI/TOF质谱仪。简单地说，这意味着病例对照研究 以及确定了感兴趣和有意义的领域的联系研究 来自全基因组的筛查现在可以测试至少20倍的数量 具有相同NIH供应预算的位置和生理候选基因。 在目前的后基因组世界中，发现了所有或几乎所有的基因 人类基因组--鉴定重要疾病基因的进展 如那些引起高血压或行为表型的人受到以下限制 预算限制。SNP的发现正在以最快的速度前进 在各种在线SNP数据库中观察到。很快就会重新排序 为所有重要基因提供SNPs。这项提案将支持八大 美国国立卫生研究院资助了寻求发现疾病基因的项目。这些项目中有许多 将需要在多达5000个人类DNA样本中测试50到100个候选基因。一个 成本的显著降低将导致更快的基因发现 为了医学科学。

DESCRIPTION (provided by applicant): The ability to accurately and inexpensively genotype single nucleotide polymorphisms (SNPs) is currently limiting for many large-scale association and gene discovery projects. The major hurdle to overcome is cost. This shared instrumentation grant proposes to purchase a new commercial instrument capable of genotyping SNPs for a 20-fold reduction in cost, while maintaining the ability to carry out a high throughput. The technology is base on primer extension and detection with MALDI/TOF mass spectrometry. Simply put, this means that case-control studies and linkage studies which have identified areas of interest and significance from genome wide screens can now test a minimum of 20 times the number of positional and physiological candidate genes with the same NIH supply budget. In the current post-genomic world of all, or nearly all, genes identified in the human genome the progress for the identification of important disease genes such as those causing hypertension or behavioral phenotypes is limited by budgetary constraints. SNP discovery is advancing at a rapid pace as can be observed in the variety of on-line SNP databases. Soon resequencing will provide SNPs for all important genes. This proposal will support eight major NIH funded projects that seek to discover disease genes. Many of these projects will need to test 50 to 100 candidate genes in up to 5,000 human DNA samples. A significant reduction in cost will lead to faster gene discoveries important for medical science.