PARENTAGE AND PEDIGREE ANALYSIS BY GENETIC BIT ANALYSIS

通过遗传位分析进行亲子关系和谱系分析

• 批准号: 2668490
• 负责人: MICHAEL T BOYCE-JACINO
• 金额: $ 20.82万
• 依托单位: ORCHID BIOCOMPUTER, INC.
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-08-01 至 1999-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2668490
• 关键词: PARENTAGE; PEDIGREE; ANALYSIS; GENETIC; BIT

The objective of this project is to develop a human parentage test incorporating significant improvements in utility, reliability, and cost effectiveness over currently available parentage tests. The test will be based on enzymatic interrogation of single-nucleotide-polymorphisms (SNPs) in a microtiter plate-format by Genetic Bit Analysis, (GBA). SNPs are the most common and dispersed polymorphisms in the human genome, and it is anticipated that 40 such sites will be needed to ensure a probability of exclusion of greater than 99.99%. The goal of Phase I will be to demonstrate the cost effectiveness and feasibility of detecting SNPs in previously mapped and sequenced human genomic loci, and converting those SNPs to GBA-detectable sites. The goal of Phase II will be to develop a prototype human parentage test. This GBA test will analyze a panel of 40 SNP markers and will be pilot tested on a significant number of families from major ethic groups. Development of such a test will have direct impact on the large and growing paternity market (more than 200,000 cases per year), providing improved accuracy and utility at a much reduced cost. The strategy developed during this project will also yield an efficient and cost-effective system for conversion of known human DNA sequences to a GBA test format with broad applications in human gene mapping and genetic analysis.

这个项目的目标是开发一种人类亲子鉴定 在实用性、可靠性和成本方面都有显著改进 比目前可用的亲子鉴定更有效。考试将是 基于单核苷酸多态(SNPs)的酶询问 在遗传比特分析(GBA)的微滴定板格式中。SNPs是 人类基因组中最常见和最分散的多态，它是 预计需要40个这样的地点，以确保有可能 排除性大于99.99%。第一阶段的目标是 论证检测SNPs的成本效益和可行性 先前绘制和测序的人类基因组基因座，并将这些 SNPs到GBA可检测的位置。第二阶段的目标将是开发一种 人类亲子鉴定的原型。这项GBA测试将分析一个由40人组成的小组 SNP标记，并将在大量家庭上进行试点测试 来自主要的伦理团体。开发这样一种测试将直接 对庞大且不断增长的亲子鉴定市场的影响(超过200,000个案例 每年)，以大大降低的成本提供更高的准确性和实用性。 在这个项目期间制定的战略也将产生一个有效的 和经济高效的系统将已知的人类DNA序列转换为 一种在人类基因图谱和基因工程中应用广泛的GBA测试格式 基因分析。