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Bylund/SRL/NEW Scripps Reference Laboratory

David J. Bylund, M.D.

The Scripps Reference Laboratory (SRL), located at 11107 Roselle Street in San Diego, California, is a division of TSRI. Its core mission is to support TSRI's biomedical research through validation or verification of new, medically useful laboratory assays. Most new assays are based on innovative research discoveries made at TSRI or elsewhere. Data and clinical samples from new assays performed for U.S. clients are made available to TSRI investigators in support of the investigators' applied research work.

Identification by DNA sequence analysis of mutations in the gene that encodes the gp91 phox subunit of the cytochrome b558 component of NADPH oxidase will soon be added to our test list. Patients with chronic granulomatous disease and carriers of the gene for the disease have mutations in this X-linked gene. This assay will be used in conjunction with our dihydrorhodamine 123 functional flow cytometric assay that measures the ability of a patient's stimulated granulocytes to produce reactive oxygen intermediates. We will also offer a flow cytometry assay that measures the relative quantity of CD18 on the surface of peripheral granulocytes. This assay will be used for diagnosis of type 1 leukocyte adhesion deficiency. Each of these assays was developed under the direction of John Curnutte, Department of Molecular and Experimental Medicine.

We are working with Thomas Kunicki, Department of Molecular and Experimental Medicine, on a molecular assay to detect 4 polymorphisms in the gene for the a2 subunit of the platelet integrin a2ß1. These allelic polymorphisms alter the density of a2ß1 on the platelet surface and thus may influence the risk factors for thrombosis. Three additional molecular genetic assays we plan to offer will also be used to assess risk for thrombosis. These include assays to detect (1) the Leu33Pro polymorphism in the gene for platelet integrin ß3, (2) the 675 (4G) polymorphism in the gene for plasminogen activator inhibitor-1, and (3) an insertion/deletion polymorphism in the gene for angiotensin-converting enzyme.

Jerry Ware, Department of Molecular and Experimental Medicine, is assisting David Carney, SRL staff scientist, with validation of an assay to help diagnose the hemophilia A carrier state. This assay is based on the principle of linkage analysis and uses identification of polymorphisms within and near the gene for factor VIII in families with a known hemophilia A proband. In addition, we will offer an assay to detect an inversion mutation in intron 22 of the gene for factor VIII, a mutation that is highly prevalent in patients with severe hemophilia.

We are collaborating with Dan Salomon, Department of Molecular and Experimental Medicine, to develop a molecular assay to quantify chimerism after transplantation of allogeneic bone marrow. The assay will be performed by using DNA array technology.

Several new coagulation assays are being developed under the guidance of Zaverio Ruggeri, Department of Molecular and Experimental Medicine, and Dr. Ware. Two enzyme-linked immunosorbent assays that measure binding of factor VIII and platelet membrane glycoprotein Ib to von Willebrand factor will be used to detect patients with type 2N and type 2b variants, respectively, of von Willebrand disease. We are also working on 2 assays for antibodies to heparin-platelet factor 4 that will be used for diagnosis of heparin-induced thrombocytopenia. One assay will be an enzyme-linked immunosorbent assay; the other, a functional assay based on heparin-induced release of serotonin by platelets. An assay to determine heparin factor Xa activity in citrated plasma will be used to measure plasma heparin levels for patients on heparin therapy.

Two new autoantibody assays in development involve antibodies to ribosomal P and muscarinic M3 receptor. Autoantibodies with high specificity for ribosomal P occur in patients with systemic lupus erythematosus and occasionally in patients with this disease who have neuropsychiatric disorders. Autoantibodies with high specificity for the muscarinic M3 receptor occur in patients with Sjögren's syndrome.

SRL has assembled specialized medical assays in the areas of autoimmunity, immunodeficiency, coagulation and thrombosis, and molecular pathology. We remain committed to our role as a U.S. partner with SmithKline Beecham Clinical Laboratories, now a part of Quest Diagnostics, Inc., and as a reference laboratory for Special Reference Laboratories, our affiliate based in Tokyo, Japan.



Copyright © 2004 TSRI.