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

旧金山弗朗西斯科总医院的DNA诊断实验室 要求继续资助作为核心实验室，将提供DNA- 北方加州综合性 镰状细胞中心，并作为其他诊断资源 机构职能体系 我们将为受试者提供基因型诊断， 研究中心和临床诊断不能 使用标准临床试验很容易确定，并将继续 发展出更好的DNA诊断方法。 具体来说，我们将 确定β-珠蛋白和α-珠蛋白基因型和β-RFLP 临床和基础科学入选受试者的单倍型 北方加州综合镰状细胞中心的研究， 这将与这些研究中获得的信息相关联。 我们还将提供基因型诊断的患者有困难， 诊断血红蛋白病，包括最初诊断的血红蛋白病 在他们开始接受慢性输血治疗之前， 产前诊断的候选人，其突变必须在 产前诊断前的DNA水平可以进行， 基因型诊断被多种基因的复杂相互作用所掩盖。 血红蛋白病基因。 我们也将继续发展和适应 为镰状细胞病的DNA诊断提供优势的方法 疾病和其他血红蛋白病。 我们目前使用的方法 包括PCR直接测序法 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， 提供了替代某些诊断方法的潜力， 目前在用。 先进的诊断技术 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。

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.