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

旧金山综合医院的DNA诊断实验室是 要求继续提供资金作为核心实验室，提供DNA- 基于对北加州综合体的基因诊断 镰状细胞中心，并作为诊断资源用于其他 机构。我们将为受试者提供基因诊断 该中心的研究和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 β-珠蛋白和α-珠蛋白基因分型及β-RFLP测定 拟招收临床和基础科学专业的受试者单倍型 北加州综合镰刀细胞中心的研究， 这将与在这些研究中获得的信息相关联。 我们还将为患有难治性疾病的患者提供基因诊断。 诊断血红蛋白疾病，包括那些最初诊断为 在开始接受慢性输血治疗之前没有得到， 产前诊断的候选人，其突变必须在 可以进行产前诊断前的DNA水平，其患者 由于多种因素的复杂相互作用，基因诊断变得模糊起来 血红蛋白致病基因。我们还将继续发展和适应 为镰状细胞DNA诊断提供优势的方法 疾病和其他血红蛋白疾病。我们目前使用的方法 本实验室开展的包括直接序列分析的聚合酶链式反应 单链变性梯度凝胶电泳法产物 确认多态和GAP-PCR。这些方法将提供 我们实验室的诊断能力范围更广，并可能 为取代我们的某些诊断方法提供了潜力 目前受雇的。先进的诊断工具的可用性 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。

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.