(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.
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| Dobrowolski, Steven F; Banas, Richard A; Suzow, Joseph G et al. (2003) Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. J Mol Diagn 5:42-7 |
