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: 2190377
• 负责人: MICHAEL T BOYCE-JACINO
• 金额: $ 6.92万
• 依托单位: MOLECULAR TOOL, 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 1995-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2190377
• 关键词: family genetics; genetic markers; genetic polymorphism; human genetic material tag; method development; nucleic acid sequence; polymerase chain reaction; racial /ethnic difference

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.

该项目的目标是开发人类亲子鉴定 实用性、可靠性和成本方面的显着改进 比目前可用的亲子鉴定测试更有效。 测试将是 基于单核苷酸多态性 (SNP) 的酶促询问 遗传位分析 (GBA) 的微量滴定板格式。 SNP 是 人类基因组中最常见和最分散的多态性， 预计需要 40 个这样的站点才能确保 排除率大于99.99%。 第一阶段的目标是 证明检测 SNP 的成本效益和可行性 先前绘制和测序的人类基因组位点，并将这些 GBA 可检测位点的 SNP。 第二阶段的目标是开发一个 人类亲子鉴定原型。 该 GBA 测试将分析 40 个小组 SNP 标记并将在大量家庭中进行试点测试 来自主要种族群体。 开发这样的测试将直接 对庞大且不断增长的亲子市场的影响（超过 200,000 例 每年），以大大降低的成本提供更高的准确性和实用性。 该项目期间制定的战略也将产生有效的 和具有成本效益的系统，用于将已知的人类 DNA 序列转换为 GBA 测试格式，在人类基因图谱和 遗传分析。