NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSIS

描述：（从申请人描述中扫描）：一名新生儿 基于多重PCR的筛选方案和PCR产物的分析， 正在开发低密度寡核苷酸阵列。该测定基于 从普遍收集的新生儿血液卡中获得的DNA。以下 通过分析它们的共同突变来检测疾病：1）。镰状 细胞血红蛋白病S等位基因（A173T）、C等位基因（G172A）和E等位基因（G232A）; 2）。遗传性血色病G845A和C187G; 3）。α-1-抗胰蛋白酶 缺失Z等位基因（G9989a）和S等位基因（A7677T）;遗传性 血栓形成倾向（凝血因子V Leiden G1691A，凝血酶原G20210A， 亚甲基四氢叶酸还原酶C677T）; 5）. MELAS综合征A3243G; 6）长 链3-羟基酰基辅酶A脱氢酶缺乏症T919 C、C1024 T、G1528 C、 C1570T，675insC，IVS3 + 1 G> A，VVS 3 + 3 A> G; 7）肾病性胱氨酸病63 kb缺失， G753 A，357 - 360 delGACT，537 - 557 del 21 bp，1035 incC，G1261 A，G1354 A。 在从冲血开始的每个阶段都采用自动化和/或多路复用 点到数据减少，使主要分子系统适合于 人口筛查和经济上可行的实验室。测定 扩大新生儿筛查发现的疾病数量，从而提供 改善公共卫生服务。 拟定商业应用： 不可用

DESCRIPTION: (Scanned from the Applicant's Description): A primary newborn screening protocol based on multiplex PCR and analysis of PCR products by low-density oligonucleotide arrays is being developed. The assay is based on DNA obtained from the universally collected neonatal blood card. The following disorders are detected through analysis of their common mutations: 1). Sickle Cell Hemoglobinopathy S allele (A173T), C allele (G172A), and E allele (G232A); 2). Heriditary Hemochromatosis G845A and C187G; 3). Alpha-1-Antitrypsin Deficiency Z allele (G9989a) and S allele (A7677T); 4). Hereditary Thrombophilia (Factor V Leiden G1691A, Prothrombin G20210A, Methylenetetrahydrofolate reductase C677T); 5). MELAS Syndrome A3243G; 6) Long Chain 3-hydroxy Acyl Co-A Dehydrogenase Deficiency T919C, C1024T, G1528C, C1570T, 675insC, IVS3 +1 G>A,VVS3 +3 A>G; 7)Nephropathic cystinosis 63 kb del, G753A, 357-360 delGACT, 537-557 del 21 bp, 1035 incC, G1261A, G1354A. Automation and/or multiplexing is employed at every stage from punching blood spots to data reduction, enabling a primary molecular system suitable for population screening and economically viable for the laboratory. The assay expands the number of disorders detected by newborn screening thus providing an improved public health service. PROPOSED COMMERCIAL APPLICATION: Not Available