Sequenom MassARRAY High Throughput System

描述（由申请人提供）：准确和 目前，对单核苷酸多态性（SNP）进行廉价基因分型 限制了许多大规模的关联和基因发现项目。的 需要克服的主要障碍是成本。这项共享仪器补助金提议 购买一个新的商业仪器能够基因分型SNP的20倍， 降低成本，同时保持高执行能力， 吞吐量该技术基于引物延伸和检测， MALDI/TOF质谱法。简而言之，这意味着病例对照研究 和联系研究，确定了感兴趣和重要的领域 从基因组范围的屏幕现在可以测试至少20倍的数量， 具有相同NIH供应预算的位置和生理候选基因。 在当前的后基因组世界中，所有或几乎所有的基因都是在基因组中发现的。 人类基因组：重要疾病基因鉴定的进展 例如引起高血压或行为表型的那些， 预算限制。SNP发现正以快速的速度前进， 在各种在线SNP数据库中观察到。很快重新排序将 提供所有重要基因的SNP。该提案将支持八大 美国国立卫生研究院资助的项目旨在发现疾病基因。其中不少项目 将需要在多达5,000个人类DNA样本中测试50到100个候选基因。一 成本的显著降低将导致更快的基因发现， 用于医学科学。

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.