NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK COORD CTR

新生儿筛查转化研究网络坐标 CTR

• 批准号: 8550735
• 负责人: MELISSA FORBURGER
• 金额: $ 499.12万
• 依托单位: AMERICAN COLLEGE OF MEDICAL GENETICS
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-09-26 至 2013-09-25
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8550735
• 关键词: Biological Assay; Biotinidase Deficiency; Blood; Clinical; Congenital adrenal hyperplasia; Cretinism; Cystic Fibrosis; Cytomegalovirus; Detection; Development; Galactosemias; Gene Mutation; Genes; Globoid cell leukodystrophy; Glycogen storage disease type II; Immunoassay; Informatics; Investments; Liquid substance; Methodology; Microspheres; Mutation; Mutation Analysis; Neonatal Screening; Policy Maker; Protocols documentation; Registries; Research; Research Personnel; Site; Spottings; Suspension substance; Suspensions; System; Technology; Testing; Translational Research; Validation; Virus; antibody conjugate; hearing impairment; human GJB2 protein; human subject; leukodystrophy; programs

This project integrates two complementary multiplex, high-throughput analytical protocols on the Luminex xMAP platform - for both immunoassay and highly multiplexed DNA mutation analysis by suspension array - requiring new yet practical investment in technology by newborn screening (NBS) programs. The objective of this proposal is to investigate opportunities to integrate methodologies with this new combined Luminex testing system to develop a comprehensive NBS platform. The project will develop comprehensive assays on the Luminex xMAP platform for use in NBS programs. Two development paths will be described: ¿ DNA mutation analysis - using the Luminex liquid universal array platform to develop assays for galactosemia (5 mutations); MCADD (5 mutations), biotinidase deficiency (5 mutations); hearing loss due to connexin-26 in the GJB2 gene (3 mutations) (35); and cytomegalovirus virus (3 markers). ¿ Phenotypic analysis - using mUltiplex microsphere sets with conjugated antibodies for specific analyte detection to screen for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia, and the leukodystrophies Krabbe and Pompe disease.

该项目在Luminex xMAP平台上集成了两种互补的多重高通量分析方案-用于免疫测定和悬浮阵列的高度多重DNA突变分析-需要新生儿筛查（NBS）计划在技术上进行新的实用投资。本提案的目的是研究将方法与新的组合Luminex测试系统集成的机会，以开发全面的NBS平台。该项目将在Luminex xMAP平台上开发用于NBS项目的综合分析。将描述两种发展路径： DNA突变分析-使用Luminex液体通用阵列平台开发半乳糖血症（5种突变）; MCADD（5种突变），生物素酶缺乏症（5种突变）; GJB 2基因中连接蛋白-26导致的听力损失（3种突变）（35）;和巨细胞病毒病毒（3种标记物）。 表型分析-使用mUltiplex微球组与特异性分析物检测的结合抗体，筛查先天性甲状腺功能减退症，囊性纤维化，先天性肾上腺增生症，以及脑白质营养不良Krabbe和Pompe病。