Sequenom MassARTRAY System

Sequenom MassARTRAY 系统

• 批准号: 6580826
• 负责人: Anne Mary Bowcock
• 金额: $ 50万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-04-01 至 2004-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6580826
• 关键词: alleles; biomedical equipment purchase; genotype; high throughput technology; mass spectrometry; single nucleotide polymorphism

DESCRIPTION (provided by applicant): With the completion of the first draft of human genomic sequence, and the identification of over 1.4 million SNPs (single nucleotide polymorphisms) (SNP Consortium, 2001) we have the tools to fully explore the genetic basis of complex human diseases and response to drugs. Complex diseases being studied at Washington University School of Medicine include Alzheimer's disease, Alcohol Dependence, Nicotine Dependence, Diabetes and Psoriasis. The identification of SNP alleles that are associated with risk variants for common diseases will pinpoint the locations of the genetic risk factors for disease and drug response and lead to their identification. The Sequenom MassARRAY system allows one to accurately type large numbers of SNPs in large numbers of samples in a cost-effective manner. Because it relies on MALDI-TOF (Matrix Assisted Laser Desorption/Ionization - Time-of-Flight mass spectrometry), many of the limitations of traditional approaches to SNP analyses are overcome. In this system mass spectrometry is used to identify alleles on the basis of mass. It is therefore not hindered by the nuances caused by allele dropout and mismatched hybridizations. The MassARRAY system is automated and high throughput. It also has a low error rate when compared to other SNP genotyping technologies. Other instruments used for high throughput SNP typing cannot handle the large number of samples that the Sequenom MassArray system can, and genotyping costs are greater. The acquisition of this instrument at Washington University School of Medicine is likely to greatly speed up the identification of genetic risk factors for common diseases and drug response at this institution. At the end of the grant period it will be incorporated into a core genotyping facility within the Division of Human Genetics.

描述（由申请人提供）：随着人类基因组序列的初稿的完成，并鉴定了超过140万个SNP（单核苷酸多态性）（SNP Consortium，2001年），我们拥有完全探索复杂遗传基础的工具人类疾病和对药物的反应。华盛顿大学医学院研究的复杂疾病包括阿尔茨海默氏病，酒精依赖，尼古丁依赖性，糖尿病和牛皮癣。与常见疾病风险变异相关的SNP等位基因的鉴定将指出疾病和药物反应的遗传危险因素的位置，并导致其鉴定。 Secenom Massarray系统允许以经济高效的方式准确地以大量样本键入大量SNP。由于它依赖于MALDI-TOF（矩阵辅助激光解吸/电离 - 飞行时间质谱），因此克服了传统方法的许多局限性SNP分析。在此系统中，质谱法用于基于质量识别等位基因。因此，这并不受到等位基因辍学和不匹配杂交造成的细微差别的阻碍。 MassArray系统是自动化的，吞吐量很高。与其他SNP基因分型技术相比，它也具有较低的错误率。 用于高吞吐量SNP键入的其他仪器无法处理Secenom Massarray系统所能的大量样品，并且基因分型成本更大。华盛顿大学医学院收购该工具很可能会大大加快该机构常见疾病和药物反应的遗传危险因素的识别。 在赠款期结束时，它将被纳入人类遗传学划分的核心基因分型设施中。