CORE--DNA DIAGNOSTIC LABORATORY AND WEST BAY COMPONENTS--HEMOGLOBINOPATHY LAB

核心——DNA诊断实验室和西湾组成部分——血红蛋白病实验室

• 批准号: 6241648
• 负责人: Stephen H. Embury
• 金额: $ 26.88万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-04-01 至 1998-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6241648
• 关键词: DNA; biomedical facility; blood disorder diagnosis; denaturing gradient gel electrophoresis; genotype; globin; polymerase chain reaction; restriction fragment length polymorphism; sickle cell anemia

The DNA diagnostic laboratory at San Francisco General Hospital is requesting continued funding as a Core laboratory that will provide DNA- based genotypic diagnoses for the Northern California Comprehensive Sickle Cell Center and serve as a diagnostic resource for other institutions. We will provide genotypic diagnoses for subjects in studies at the center and for patients whose clinical diagnosis cannot be determined readily using standard clinical testing, and will continue to develop improved methods for DNA diagnosis. Specifically, we will determine betas-globin and alpha-globin genotypes and beta-RFLP haplotypes of subjects to be enrolled in clinical and basic science studies at the Northern California Comprehensive Sickle Cell Center, which will be correlated with the information obtained in those studies. We will also provide genotype diagnoses for patients having difficult-to- diagnose hemoglobinopathies, including those for whom original diagnosis were not obtained before they were begun on chronic transfusion therapy, candidates for prenatal diagnosis whose mutations must be defined at the DNA level before prenatal diagnosis can be undertaken, and patients whose genotype diagnoses are obscured by complex interactions of multiple hemoglobinopathic genes. We will also continue to develop and adapt methods that offer advantages for DNA based diagnosis in sickle cell disease and other hemoglobinopathies. Methods that we are currently developing in our laboratory include direct sequence analysis of PCR product, denaturing gradient gel electrophoresis, single strand confirmational polymorphism, and gap PCR. These methods will provide greater breadth of diagnostic capabilities in our laboratory and may offer potential for replacing certain of the diagnostic method we currently employ. The availability of the sophisticated diagnostic methods used in this laboratory will complement and supplement the diagnostic abilities of the Core Hemoglobinopathy Laboratory.

旧金山总医院的 DNA 诊断实验室是 请求继续为核心实验室提供资金，该实验室将提供 DNA- 北加州综合基因型诊断 镰状细胞中心并作为其他人的诊断资源 机构。 我们将为受试者提供基因型诊断 中心的研究以及临床诊断无法诊断的患者 使用标准临床测试很容易确定，并将继续 开发改进的 DNA 诊断方法。 具体来说，我们将 确定 β-珠蛋白和 α-珠蛋白基因型以及 β-RFLP 临床和基础科学受试者的单倍型 在北加州综合镰状细胞中心进行研究， 这将与这些研究中获得的信息相关。 我们还将为患有疑难病症的患者提供基因型诊断 诊断血红蛋白病，包括最初诊断的患者 在开始长期输血治疗之前没有获得， 必须在产前诊断时确定其突变的候选者 可以进行产前诊断前的 DNA 水平，并且患者 基因型诊断因多种因素的复杂相互作用而变得模糊 血红蛋白病基因。 我们也将继续开发和适应 为镰状细胞病基于 DNA 的诊断提供优势的方法 疾病和其他血红蛋白病。 我们目前的方法 我们实验室正在开发包括 PCR 直接序列分析 产品，变性梯度凝胶电泳，单链 确认多态性和缺口PCR。 这些方法将提供 我们实验室的诊断能力更广泛，并且可能 提供了替代某些诊断方法的潜力 目前雇用。 复杂诊断的可用性 本实验室使用的方法将补充和补充 核心血红蛋白病实验室的诊断能力。